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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Corrigendum: Primary Immunodeficiency Diseases: An Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency</title><author><name sortKey="Al Herz, Waleed" sort="Al Herz, Waleed" uniqKey="Al Herz W" first="Waleed" last="Al-Herz">Waleed Al-Herz</name><affiliation><nlm:aff id="aff1"><institution>Department of Pediatrics, Kuwait University</institution>,<addr-line>Kuwait City</addr-line>,<country>Kuwait</country></nlm:aff></affiliation><affiliation><nlm:aff id="aff2"><institution>Allergy and Clinical Immunology Unit, Department of Pediatrics, Al-Sabah Hospital</institution>,<addr-line>Kuwait City</addr-line>,<country>Kuwait</country></nlm:aff></affiliation></author><author><name sortKey="Bousfiha, Aziz" sort="Bousfiha, Aziz" uniqKey="Bousfiha A" first="Aziz" last="Bousfiha">Aziz Bousfiha</name><affiliation><nlm:aff id="aff3"><institution>Clinical Immunology Unit, Casablanca Children’s Hospital, Ibn Rochd Medical School, King Hassan II University</institution>,<addr-line>Casablanca</addr-line>,<country>Morocco</country></nlm:aff></affiliation></author><author><name sortKey="Casanova, Jean Laurent" sort="Casanova, Jean Laurent" uniqKey="Casanova J" first="Jean-Laurent" last="Casanova">Jean-Laurent Casanova</name><affiliation><nlm:aff id="aff4"><institution>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University</institution>,<addr-line>New York, NY</addr-line>,<country>USA</country></nlm:aff></affiliation><affiliation><nlm:aff id="aff5"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Imagine Institut, Necker Medical School, University Paris Descartes</institution>,<addr-line>Paris</addr-line>,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Chatila, Talal" sort="Chatila, Talal" uniqKey="Chatila T" first="Talal" last="Chatila">Talal Chatila</name><affiliation><nlm:aff id="aff6"><institution>Division of Immunology, Children’s Hospital Boston</institution>,<addr-line>Boston, MA</addr-line>,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Conley, Mary Ellen" sort="Conley, Mary Ellen" uniqKey="Conley M" first="Mary Ellen" last="Conley">Mary Ellen Conley</name><affiliation><nlm:aff id="aff4"><institution>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University</institution>,<addr-line>New York, NY</addr-line>,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Cunningham Rundles, Charlotte" sort="Cunningham Rundles, Charlotte" uniqKey="Cunningham Rundles C" first="Charlotte" last="Cunningham-Rundles">Charlotte Cunningham-Rundles</name><affiliation><nlm:aff id="aff7"><institution>Department of Medicine and Pediatrics, Mount Sinai School of Medicine</institution>,<addr-line>New York, NY</addr-line>,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Etzioni, Amos" sort="Etzioni, Amos" uniqKey="Etzioni A" first="Amos" last="Etzioni">Amos Etzioni</name><affiliation><nlm:aff id="aff8"><institution>Meyer Children’s Hospital-Technion</institution>,<addr-line>Haifa</addr-line>,<country>Israel</country></nlm:aff></affiliation></author><author><name sortKey="Franco, Jose Luis" sort="Franco, Jose Luis" uniqKey="Franco J" first="Jose Luis" last="Franco">Jose Luis Franco</name><affiliation><nlm:aff id="aff9"><institution>Group of Primary Immunodeficiencies, University of Antioquia</institution>,<addr-line>Medellin</addr-line>,<country>Colombia</country></nlm:aff></affiliation></author><author><name sortKey="Gaspar, H Bobby" sort="Gaspar, H Bobby" uniqKey="Gaspar H" first="H. Bobby" last="Gaspar">H. Bobby Gaspar</name><affiliation><nlm:aff id="aff10"><institution>UCL Institute of Child Health</institution>,<addr-line>London</addr-line>,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Holland, Steven M" sort="Holland, Steven M" uniqKey="Holland S" first="Steven M." last="Holland">Steven M. Holland</name><affiliation><nlm:aff id="aff11"><institution>Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases</institution>,<addr-line>Bethesda, MD</addr-line>,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Klein, Christoph" sort="Klein, Christoph" uniqKey="Klein C" first="Christoph" last="Klein">Christoph Klein</name><affiliation><nlm:aff id="aff12"><institution>Dr. von Hauner Children’s Hospital, Ludwig-Maximilians-University Munich</institution>,<addr-line>Munich</addr-line>,<country>Germany</country></nlm:aff></affiliation></author><author><name sortKey="Nonoyama, Shigeaki" sort="Nonoyama, Shigeaki" uniqKey="Nonoyama S" first="Shigeaki" last="Nonoyama">Shigeaki Nonoyama</name><affiliation><nlm:aff id="aff13"><institution>Department of Pediatrics, National Defense Medical College</institution>,<addr-line>Saitama</addr-line>,<country>Japan</country></nlm:aff></affiliation></author><author><name sortKey="Ochs, Hans D" sort="Ochs, Hans D" uniqKey="Ochs H" first="Hans D." last="Ochs">Hans D. Ochs</name><affiliation><nlm:aff id="aff14"><institution>Department of Pediatrics, Seattle Children’s Research Institute, University of Washington</institution>,<addr-line>Seattle, WA</addr-line>,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Oksenhendler, Erik" sort="Oksenhendler, Erik" uniqKey="Oksenhendler E" first="Erik" last="Oksenhendler">Erik Oksenhendler</name><affiliation><nlm:aff id="aff15"><institution>Department of Clinical Immunology, Hôpital Saint-Louis, Assistance Publique-Hôpitaux de Paris</institution>,<addr-line>Paris</addr-line>,<country>France</country></nlm:aff></affiliation><affiliation><nlm:aff id="aff16"><institution>Sorbonne Paris Cité, Université Paris Diderot</institution>,<addr-line>Paris</addr-line>,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Picard, Capucine" sort="Picard, Capucine" uniqKey="Picard C" first="Capucine" last="Picard">Capucine Picard</name><affiliation><nlm:aff id="aff5"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Imagine Institut, Necker Medical School, University Paris Descartes</institution>,<addr-line>Paris</addr-line>,<country>France</country></nlm:aff></affiliation><affiliation><nlm:aff id="aff17"><institution>Centre d’étude des Déficits Immunitaires (CEDI), Hôpital Necker-Enfants Malades, AP-HP</institution>,<addr-line>Paris</addr-line>,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Puck, Jennifer M" sort="Puck, Jennifer M" uniqKey="Puck J" first="Jennifer M." last="Puck">Jennifer M. Puck</name><affiliation><nlm:aff id="aff18"><institution>Department of Pediatrics, UCSF Benioff Children’s Hospital, University of California San Francisco</institution>,<addr-line>San Francisco, CA</addr-line>,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Sullivan, Kate" sort="Sullivan, Kate" uniqKey="Sullivan K" first="Kate" last="Sullivan">Kate Sullivan</name><affiliation><nlm:aff id="aff19"><institution>Division of Allergy Immunology, Department of Pediatrics, The Children’s Hospital of Philadelphia</institution>,<addr-line>Philadelphia, PA</addr-line>,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Tang, Mimi L K" sort="Tang, Mimi L K" uniqKey="Tang M" first="Mimi L. K." last="Tang">Mimi L. K. Tang</name><affiliation><nlm:aff id="aff20"><institution>Murdoch Childrens Research Institute</institution>,<addr-line>Melbourne, VIC</addr-line>,<country>Australia</country></nlm:aff></affiliation><affiliation><nlm:aff id="aff21"><institution>Department of Paediatrics, University of Melbourne</institution>,<addr-line>Melbourne, VIC</addr-line>,<country>Australia</country></nlm:aff></affiliation><affiliation><nlm:aff id="aff22"><institution>Department of Allergy and Immunology, Royal Children’s Hospital</institution>,<addr-line>Melbourne, VIC</addr-line>,<country>Australia</country></nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmc">4174040</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4174040</idno><idno type="RBID">PMC:4174040</idno><idno type="doi">10.3389/fimmu.2014.00460</idno><idno type="pmid">NONE</idno><date when="2014">2014</date><idno type="wicri:Area/Pmc/Corpus">001266</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001266</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Corrigendum: Primary Immunodeficiency Diseases: An Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency</title><author><name sortKey="Al Herz, Waleed" sort="Al Herz, Waleed" uniqKey="Al Herz W" first="Waleed" last="Al-Herz">Waleed Al-Herz</name><affiliation><nlm:aff id="aff1"><institution>Department of Pediatrics, Kuwait University</institution>,<addr-line>Kuwait City</addr-line>,<country>Kuwait</country></nlm:aff></affiliation><affiliation><nlm:aff id="aff2"><institution>Allergy and Clinical Immunology Unit, Department of Pediatrics, Al-Sabah Hospital</institution>,<addr-line>Kuwait City</addr-line>,<country>Kuwait</country></nlm:aff></affiliation></author><author><name sortKey="Bousfiha, Aziz" sort="Bousfiha, Aziz" uniqKey="Bousfiha A" first="Aziz" last="Bousfiha">Aziz Bousfiha</name><affiliation><nlm:aff id="aff3"><institution>Clinical Immunology Unit, Casablanca Children’s Hospital, Ibn Rochd Medical School, King Hassan II University</institution>,<addr-line>Casablanca</addr-line>,<country>Morocco</country></nlm:aff></affiliation></author><author><name sortKey="Casanova, Jean Laurent" sort="Casanova, Jean Laurent" uniqKey="Casanova J" first="Jean-Laurent" last="Casanova">Jean-Laurent Casanova</name><affiliation><nlm:aff id="aff4"><institution>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University</institution>,<addr-line>New York, NY</addr-line>,<country>USA</country></nlm:aff></affiliation><affiliation><nlm:aff id="aff5"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Imagine Institut, Necker Medical School, University Paris Descartes</institution>,<addr-line>Paris</addr-line>,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Chatila, Talal" sort="Chatila, Talal" uniqKey="Chatila T" first="Talal" last="Chatila">Talal Chatila</name><affiliation><nlm:aff id="aff6"><institution>Division of Immunology, Children’s Hospital Boston</institution>,<addr-line>Boston, MA</addr-line>,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Conley, Mary Ellen" sort="Conley, Mary Ellen" uniqKey="Conley M" first="Mary Ellen" last="Conley">Mary Ellen Conley</name><affiliation><nlm:aff id="aff4"><institution>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University</institution>,<addr-line>New York, NY</addr-line>,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Cunningham Rundles, Charlotte" sort="Cunningham Rundles, Charlotte" uniqKey="Cunningham Rundles C" first="Charlotte" last="Cunningham-Rundles">Charlotte Cunningham-Rundles</name><affiliation><nlm:aff id="aff7"><institution>Department of Medicine and Pediatrics, Mount Sinai School of Medicine</institution>,<addr-line>New York, NY</addr-line>,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Etzioni, Amos" sort="Etzioni, Amos" uniqKey="Etzioni A" first="Amos" last="Etzioni">Amos Etzioni</name><affiliation><nlm:aff id="aff8"><institution>Meyer Children’s Hospital-Technion</institution>,<addr-line>Haifa</addr-line>,<country>Israel</country></nlm:aff></affiliation></author><author><name sortKey="Franco, Jose Luis" sort="Franco, Jose Luis" uniqKey="Franco J" first="Jose Luis" last="Franco">Jose Luis Franco</name><affiliation><nlm:aff id="aff9"><institution>Group of Primary Immunodeficiencies, University of Antioquia</institution>,<addr-line>Medellin</addr-line>,<country>Colombia</country></nlm:aff></affiliation></author><author><name sortKey="Gaspar, H Bobby" sort="Gaspar, H Bobby" uniqKey="Gaspar H" first="H. Bobby" last="Gaspar">H. Bobby Gaspar</name><affiliation><nlm:aff id="aff10"><institution>UCL Institute of Child Health</institution>,<addr-line>London</addr-line>,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Holland, Steven M" sort="Holland, Steven M" uniqKey="Holland S" first="Steven M." last="Holland">Steven M. Holland</name><affiliation><nlm:aff id="aff11"><institution>Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases</institution>,<addr-line>Bethesda, MD</addr-line>,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Klein, Christoph" sort="Klein, Christoph" uniqKey="Klein C" first="Christoph" last="Klein">Christoph Klein</name><affiliation><nlm:aff id="aff12"><institution>Dr. von Hauner Children’s Hospital, Ludwig-Maximilians-University Munich</institution>,<addr-line>Munich</addr-line>,<country>Germany</country></nlm:aff></affiliation></author><author><name sortKey="Nonoyama, Shigeaki" sort="Nonoyama, Shigeaki" uniqKey="Nonoyama S" first="Shigeaki" last="Nonoyama">Shigeaki Nonoyama</name><affiliation><nlm:aff id="aff13"><institution>Department of Pediatrics, National Defense Medical College</institution>,<addr-line>Saitama</addr-line>,<country>Japan</country></nlm:aff></affiliation></author><author><name sortKey="Ochs, Hans D" sort="Ochs, Hans D" uniqKey="Ochs H" first="Hans D." last="Ochs">Hans D. Ochs</name><affiliation><nlm:aff id="aff14"><institution>Department of Pediatrics, Seattle Children’s Research Institute, University of Washington</institution>,<addr-line>Seattle, WA</addr-line>,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Oksenhendler, Erik" sort="Oksenhendler, Erik" uniqKey="Oksenhendler E" first="Erik" last="Oksenhendler">Erik Oksenhendler</name><affiliation><nlm:aff id="aff15"><institution>Department of Clinical Immunology, Hôpital Saint-Louis, Assistance Publique-Hôpitaux de Paris</institution>,<addr-line>Paris</addr-line>,<country>France</country></nlm:aff></affiliation><affiliation><nlm:aff id="aff16"><institution>Sorbonne Paris Cité, Université Paris Diderot</institution>,<addr-line>Paris</addr-line>,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Picard, Capucine" sort="Picard, Capucine" uniqKey="Picard C" first="Capucine" last="Picard">Capucine Picard</name><affiliation><nlm:aff id="aff5"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Imagine Institut, Necker Medical School, University Paris Descartes</institution>,<addr-line>Paris</addr-line>,<country>France</country></nlm:aff></affiliation><affiliation><nlm:aff id="aff17"><institution>Centre d’étude des Déficits Immunitaires (CEDI), Hôpital Necker-Enfants Malades, AP-HP</institution>,<addr-line>Paris</addr-line>,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Puck, Jennifer M" sort="Puck, Jennifer M" uniqKey="Puck J" first="Jennifer M." last="Puck">Jennifer M. Puck</name><affiliation><nlm:aff id="aff18"><institution>Department of Pediatrics, UCSF Benioff Children’s Hospital, University of California San Francisco</institution>,<addr-line>San Francisco, CA</addr-line>,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Sullivan, Kate" sort="Sullivan, Kate" uniqKey="Sullivan K" first="Kate" last="Sullivan">Kate Sullivan</name><affiliation><nlm:aff id="aff19"><institution>Division of Allergy Immunology, Department of Pediatrics, The Children’s Hospital of Philadelphia</institution>,<addr-line>Philadelphia, PA</addr-line>,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Tang, Mimi L K" sort="Tang, Mimi L K" uniqKey="Tang M" first="Mimi L. K." last="Tang">Mimi L. K. Tang</name><affiliation><nlm:aff id="aff20"><institution>Murdoch Childrens Research Institute</institution>,<addr-line>Melbourne, VIC</addr-line>,<country>Australia</country></nlm:aff></affiliation><affiliation><nlm:aff id="aff21"><institution>Department of Paediatrics, University of Melbourne</institution>,<addr-line>Melbourne, VIC</addr-line>,<country>Australia</country></nlm:aff></affiliation><affiliation><nlm:aff id="aff22"><institution>Department of Allergy and Immunology, Royal Children’s Hospital</institution>,<addr-line>Melbourne, VIC</addr-line>,<country>Australia</country></nlm:aff></affiliation></author></analytic><series><title level="j">Frontiers in Immunology</title><idno type="eISSN">1664-3224</idno><imprint><date when="2014">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader></TEI><pmc article-type="correction"><pmc-dir>properties open_access</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Front Immunol</journal-id><journal-id journal-id-type="iso-abbrev">Front Immunol</journal-id><journal-id journal-id-type="publisher-id">Front. Immunol.</journal-id><journal-title-group><journal-title>Frontiers in Immunology</journal-title></journal-title-group><issn pub-type="epub">1664-3224</issn><publisher><publisher-name>Frontiers Media S.A.</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmc">4174040</article-id><article-id pub-id-type="doi">10.3389/fimmu.2014.00460</article-id><article-categories><subj-group subj-group-type="heading"><subject>Immunology</subject><subj-group><subject>General Commentary</subject></subj-group></subj-group></article-categories><title-group><article-title>Corrigendum: Primary Immunodeficiency Diseases: An Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Al-Herz</surname><given-names>Waleed</given-names></name><xref ref-type="aff" rid="aff1"><sup>1</sup></xref><xref ref-type="aff" rid="aff2"><sup>2</sup></xref><uri xlink:type="simple" xlink:href="http://frontiersin.org/people/u/39391"></uri></contrib><contrib contrib-type="author"><name><surname>Bousfiha</surname><given-names>Aziz</given-names></name><xref ref-type="aff" rid="aff3"><sup>3</sup></xref><uri xlink:type="simple" xlink:href="http://frontiersin.org/people/u/40763"></uri></contrib><contrib contrib-type="author"><name><surname>Casanova</surname><given-names>Jean-Laurent</given-names></name><xref ref-type="aff" rid="aff4"><sup>4</sup></xref><xref ref-type="aff" rid="aff5"><sup>5</sup></xref><uri xlink:type="simple" xlink:href="http://frontiersin.org/people/u/23598"></uri></contrib><contrib contrib-type="author"><name><surname>Chatila</surname><given-names>Talal</given-names></name><xref ref-type="aff" rid="aff6"><sup>6</sup></xref></contrib><contrib contrib-type="author"><name><surname>Conley</surname><given-names>Mary Ellen</given-names></name><xref ref-type="aff" rid="aff4"><sup>4</sup></xref></contrib><contrib contrib-type="author"><name><surname>Cunningham-Rundles</surname><given-names>Charlotte</given-names></name><xref ref-type="aff" rid="aff7"><sup>7</sup></xref><uri xlink:type="simple" xlink:href="http://frontiersin.org/people/u/42358"></uri></contrib><contrib contrib-type="author"><name><surname>Etzioni</surname><given-names>Amos</given-names></name><xref ref-type="aff" rid="aff8"><sup>8</sup></xref><uri xlink:type="simple" xlink:href="http://frontiersin.org/people/u/25288"></uri></contrib><contrib contrib-type="author"><name><surname>Franco</surname><given-names>Jose Luis</given-names></name><xref ref-type="aff" rid="aff9"><sup>9</sup></xref><uri xlink:type="simple" xlink:href="http://frontiersin.org/people/u/23962"></uri></contrib><contrib contrib-type="author"><name><surname>Gaspar</surname><given-names>H. Bobby</given-names></name><xref ref-type="aff" rid="aff10"><sup>10</sup></xref><xref ref-type="corresp" rid="cor1">*</xref><uri xlink:type="simple" xlink:href="http://frontiersin.org/people/u/126978"></uri></contrib><contrib contrib-type="author"><name><surname>Holland</surname><given-names>Steven M.</given-names></name><xref ref-type="aff" rid="aff11"><sup>11</sup></xref></contrib><contrib contrib-type="author"><name><surname>Klein</surname><given-names>Christoph</given-names></name><xref ref-type="aff" rid="aff12"><sup>12</sup></xref></contrib><contrib contrib-type="author"><name><surname>Nonoyama</surname><given-names>Shigeaki</given-names></name><xref ref-type="aff" rid="aff13"><sup>13</sup></xref><uri xlink:type="simple" xlink:href="http://frontiersin.org/people/u/39288"></uri></contrib><contrib contrib-type="author"><name><surname>Ochs</surname><given-names>Hans D.</given-names></name><xref ref-type="aff" rid="aff14"><sup>14</sup></xref><uri xlink:type="simple" xlink:href="http://frontiersin.org/people/u/25831"></uri></contrib><contrib contrib-type="author"><name><surname>Oksenhendler</surname><given-names>Erik</given-names></name><xref ref-type="aff" rid="aff15"><sup>15</sup></xref><xref ref-type="aff" rid="aff16"><sup>16</sup></xref></contrib><contrib contrib-type="author"><name><surname>Picard</surname><given-names>Capucine</given-names></name><xref ref-type="aff" rid="aff5"><sup>5</sup></xref><xref ref-type="aff" rid="aff17"><sup>17</sup></xref><uri xlink:type="simple" xlink:href="http://frontiersin.org/people/u/135156"></uri></contrib><contrib contrib-type="author"><name><surname>Puck</surname><given-names>Jennifer M.</given-names></name><xref ref-type="aff" rid="aff18"><sup>18</sup></xref><uri xlink:type="simple" xlink:href="http://frontiersin.org/people/u/39286"></uri></contrib><contrib contrib-type="author"><name><surname>Sullivan</surname><given-names>Kate</given-names></name><xref ref-type="aff" rid="aff19"><sup>19</sup></xref><uri xlink:type="simple" xlink:href="http://frontiersin.org/people/u/133432"></uri></contrib><contrib contrib-type="author"><name><surname>Tang</surname><given-names>Mimi L. K.</given-names></name><xref ref-type="aff" rid="aff20"><sup>20</sup></xref><xref ref-type="aff" rid="aff21"><sup>21</sup></xref><xref ref-type="aff" rid="aff22"><sup>22</sup></xref></contrib></contrib-group><aff id="aff1"><sup>1</sup><institution>Department of Pediatrics, Kuwait University</institution>,<addr-line>Kuwait City</addr-line>,<country>Kuwait</country></aff><aff id="aff2"><sup>2</sup><institution>Allergy and Clinical Immunology Unit, Department of Pediatrics, Al-Sabah Hospital</institution>,<addr-line>Kuwait City</addr-line>,<country>Kuwait</country></aff><aff id="aff3"><sup>3</sup><institution>Clinical Immunology Unit, Casablanca Children’s Hospital, Ibn Rochd Medical School, King Hassan II University</institution>,<addr-line>Casablanca</addr-line>,<country>Morocco</country></aff><aff id="aff4"><sup>4</sup><institution>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University</institution>,<addr-line>New York, NY</addr-line>,<country>USA</country></aff><aff id="aff5"><sup>5</sup><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Imagine Institut, Necker Medical School, University Paris Descartes</institution>,<addr-line>Paris</addr-line>,<country>France</country></aff><aff id="aff6"><sup>6</sup><institution>Division of Immunology, Children’s Hospital Boston</institution>,<addr-line>Boston, MA</addr-line>,<country>USA</country></aff><aff id="aff7"><sup>7</sup><institution>Department of Medicine and Pediatrics, Mount Sinai School of Medicine</institution>,<addr-line>New York, NY</addr-line>,<country>USA</country></aff><aff id="aff8"><sup>8</sup><institution>Meyer Children’s Hospital-Technion</institution>,<addr-line>Haifa</addr-line>,<country>Israel</country></aff><aff id="aff9"><sup>9</sup><institution>Group of Primary Immunodeficiencies, University of Antioquia</institution>,<addr-line>Medellin</addr-line>,<country>Colombia</country></aff><aff id="aff10"><sup>10</sup><institution>UCL Institute of Child Health</institution>,<addr-line>London</addr-line>,<country>UK</country></aff><aff id="aff11"><sup>11</sup><institution>Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases</institution>,<addr-line>Bethesda, MD</addr-line>,<country>USA</country></aff><aff id="aff12"><sup>12</sup><institution>Dr. von Hauner Children’s Hospital, Ludwig-Maximilians-University Munich</institution>,<addr-line>Munich</addr-line>,<country>Germany</country></aff><aff id="aff13"><sup>13</sup><institution>Department of Pediatrics, National Defense Medical College</institution>,<addr-line>Saitama</addr-line>,<country>Japan</country></aff><aff id="aff14"><sup>14</sup><institution>Department of Pediatrics, Seattle Children’s Research Institute, University of Washington</institution>,<addr-line>Seattle, WA</addr-line>,<country>USA</country></aff><aff id="aff15"><sup>15</sup><institution>Department of Clinical Immunology, Hôpital Saint-Louis, Assistance Publique-Hôpitaux de Paris</institution>,<addr-line>Paris</addr-line>,<country>France</country></aff><aff id="aff16"><sup>16</sup><institution>Sorbonne Paris Cité, Université Paris Diderot</institution>,<addr-line>Paris</addr-line>,<country>France</country></aff><aff id="aff17"><sup>17</sup><institution>Centre d’étude des Déficits Immunitaires (CEDI), Hôpital Necker-Enfants Malades, AP-HP</institution>,<addr-line>Paris</addr-line>,<country>France</country></aff><aff id="aff18"><sup>18</sup><institution>Department of Pediatrics, UCSF Benioff Children’s Hospital, University of California San Francisco</institution>,<addr-line>San Francisco, CA</addr-line>,<country>USA</country></aff><aff id="aff19"><sup>19</sup><institution>Division of Allergy Immunology, Department of Pediatrics, The Children’s Hospital of Philadelphia</institution>,<addr-line>Philadelphia, PA</addr-line>,<country>USA</country></aff><aff id="aff20"><sup>20</sup><institution>Murdoch Childrens Research Institute</institution>,<addr-line>Melbourne, VIC</addr-line>,<country>Australia</country></aff><aff id="aff21"><sup>21</sup><institution>Department of Paediatrics, University of Melbourne</institution>,<addr-line>Melbourne, VIC</addr-line>,<country>Australia</country></aff><aff id="aff22"><sup>22</sup><institution>Department of Allergy and Immunology, Royal Children’s Hospital</institution>,<addr-line>Melbourne, VIC</addr-line>,<country>Australia</country></aff><author-notes><fn fn-type="edited-by"><p>Edited and reviewed by: Jordan Orange, Baylor College of Medicine, USA</p></fn><corresp content-type="corresp" id="cor1">*Correspondence: <email>h.gaspar@ucl.ac.uk</email></corresp><fn fn-type="other" id="fn001"><p>This article was submitted to Primary Immunodeficiencies, a section of the journal Frontiers in Immunology.</p></fn></author-notes><pub-date pub-type="epub"><day>24</day><month>9</month><year>2014</year></pub-date><pub-date pub-type="collection"><year>2014</year></pub-date><volume>5</volume><elocation-id>460</elocation-id><history><date date-type="received"><day>03</day><month>9</month><year>2014</year></date><date date-type="accepted"><day>09</day><month>9</month><year>2014</year></date></history><permissions><copyright-statement>Copyright © 2014 Al-Herz, Bousfiha, Casanova, Chatila, Conley, Cunningham-Rundles, Etzioni, Franco, Gaspar, Holland, Klein, Nonoyama, Ochs, Oksenhendler, Picard, Puck, Sullivan and Tang.</copyright-statement><copyright-year>2014</copyright-year><license license-type="open-access" xlink:href="http://creativecommons.org/licenses/by/4.0/"><license-p>This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.</license-p></license></permissions><related-article related-article-type="corrected-article" id="d35e517" vol="5" page="162" xlink:href="24795713" ext-link-type="pubmed">A corrigendum on <article-title>Primary immunodeficiency diseases: an update on the classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency</article-title> by Al-Herz W, Bousfiha A, Casanova J-L, Chatila T, Conley ME, Cunningham-Rundles C, Etzioni A, Franco JL, Gaspar HB, Holland SM, Klein C, Nonoyama S, Ochs HD, Oksenhendler E, Picard C, Puck JM, Sullivan K and Tang MLK. Front Immunol (2014) 5:162. doi:10.3389/fimmu.2014.00162</related-article><kwd-group><kwd>immunodeficiency</kwd><kwd>classification</kwd><kwd>gene defects</kwd><kwd>genotype</kwd><kwd>IUIS</kwd></kwd-group><counts><fig-count count="0"></fig-count><table-count count="1"></table-count><equation-count count="0"></equation-count><ref-count count="0"></ref-count><page-count count="6"></page-count><word-count count="2640"></word-count></counts></article-meta></front><body><p>In Table <xref ref-type="table" rid="T1">1</xref> of the original manuscript, two gene defects were inadvertently omitted. These two defects (Cernunnos and DNA ligase IV deficiency) fall into the category of DNA recombination defects and lead to a radiosensitive form of SCID associated with microcephaly and developmental defects. These two genes have now been added to a revised Table <xref ref-type="table" rid="T1">1</xref>.</p><table-wrap id="T1" position="float"><label>Table 1</label><caption><p><bold>Combined immunodeficiencies</bold>.</p></caption><table frame="hsides" rules="groups"><thead><tr><th align="left" valign="top" rowspan="1" colspan="1">Disease</th><th align="left" valign="top" rowspan="1" colspan="1">Genetic defect/ presumed pathogenesis</th><th align="left" valign="top" rowspan="1" colspan="1">Inheritance</th><th align="left" valign="top" rowspan="1" colspan="1">Circulating T cells</th><th align="left" valign="top" rowspan="1" colspan="1">Circulating B cells</th><th align="left" valign="top" rowspan="1" colspan="1">Serum Ig</th><th align="left" valign="top" rowspan="1" colspan="1">Associated features</th><th align="left" valign="top" rowspan="1" colspan="1">OMIM number</th></tr></thead><tbody><tr><td align="left" valign="top" colspan="8" rowspan="1">1. T<sup>−</sup>B<sup>+</sup> Severe combined immunodeficiency (SCID)</td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">(a) γc deficiency</td><td align="left" valign="top" rowspan="1" colspan="1">Mutation of <italic>IL2RG</italic> Defect in γ chain of receptors for IL-2, -4, -7, -9, -15, -21</td><td align="left" valign="top" rowspan="1" colspan="1">XL</td><td align="left" valign="top" rowspan="1" colspan="1">Markedly decreased</td><td align="left" valign="top" rowspan="1" colspan="1">Normal or increased</td><td align="left" valign="top" rowspan="1" colspan="1">Decreased</td><td align="left" valign="top" rowspan="1" colspan="1">Markedly decreased NK cells</td><td align="left" valign="top" rowspan="1" colspan="1"><uri xlink:type="simple" xlink:href="http://www.omim.org/entry/300400">300400</uri></td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">(b) JAK3 deficiency</td><td align="left" valign="top" rowspan="1" colspan="1">Mutation of <italic>JAK3</italic> Defect in Janus activating kinase 3</td><td align="left" valign="top" rowspan="1" colspan="1">AR</td><td align="left" valign="top" rowspan="1" colspan="1">Markedly decreased</td><td align="left" valign="top" rowspan="1" colspan="1">Normal or increased</td><td align="left" valign="top" rowspan="1" colspan="1">Decreased</td><td align="left" valign="top" rowspan="1" colspan="1">Markedly decreased NK cells;</td><td align="left" valign="top" rowspan="1" colspan="1"><uri xlink:type="simple" xlink:href="http://www.omim.org/entry/600173">600173</uri></td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">(c) IL7Rα deficiency</td><td align="left" valign="top" rowspan="1" colspan="1">Mutation of <italic>IL7RA</italic> Defect in IL-7 receptor α chain</td><td align="left" valign="top" rowspan="1" colspan="1">AR</td><td align="left" valign="top" rowspan="1" colspan="1">Markedly decreased</td><td align="left" valign="top" rowspan="1" colspan="1">Normal or increased</td><td align="left" valign="top" rowspan="1" colspan="1">Decreased</td><td align="left" valign="top" rowspan="1" colspan="1">Normal NK cells</td><td align="left" valign="top" rowspan="1" colspan="1"><uri xlink:type="simple" xlink:href="http://www.omim.org/entry/146661">146661</uri></td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">(d) CD45 deficiency<xref ref-type="table-fn" rid="tfn1"><sup>a</sup></xref></td><td align="left" valign="top" rowspan="1" colspan="1">Mutation of <italic>PTPRC</italic> Defect in CD45</td><td align="left" valign="top" rowspan="1" colspan="1">AR</td><td align="left" valign="top" rowspan="1" colspan="1">Markedly decreased</td><td align="left" valign="top" rowspan="1" colspan="1">Normal</td><td align="left" valign="top" rowspan="1" colspan="1">Decreased</td><td align="left" valign="top" rowspan="1" colspan="1">Normal γ/δ T cells</td><td align="left" valign="top" rowspan="1" colspan="1"><uri xlink:type="simple" xlink:href="http://www.omim.org/entry/151460">151460</uri></td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">(e) CD3δ deficiency</td><td align="left" valign="top" rowspan="1" colspan="1">Mutation of <italic>CD3D</italic> Defect in CD3δ, chain of T cell antigen receptor complex</td><td align="left" valign="top" rowspan="1" colspan="1">AR</td><td align="left" valign="top" rowspan="1" colspan="1">Markedly decreased</td><td align="left" valign="top" rowspan="1" colspan="1">Normal</td><td align="left" valign="top" rowspan="1" colspan="1">Decreased</td><td align="left" valign="top" rowspan="1" colspan="1">Normal NK cells No γ/δ T cells</td><td align="left" valign="top" rowspan="1" colspan="1"><uri xlink:type="simple" xlink:href="http://www.omim.org/entry/186790">186790</uri></td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">(f) CD3ε deficiency<xref ref-type="table-fn" rid="tfn1"><sup>a</sup></xref></td><td align="left" valign="top" rowspan="1" colspan="1">Mutation of <italic>CD3E</italic> Defect in CD3ε chain of T cell antigen receptor complex</td><td align="left" valign="top" rowspan="1" colspan="1">AR</td><td align="left" valign="top" rowspan="1" colspan="1">Markedly decreased</td><td align="left" valign="top" rowspan="1" colspan="1">Normal</td><td align="left" valign="top" rowspan="1" colspan="1">Decreased</td><td align="left" valign="top" rowspan="1" colspan="1">Normal NK cells No γ/δ T cells</td><td align="left" valign="top" rowspan="1" colspan="1"><uri xlink:type="simple" xlink:href="http://www.omim.org/entry/186830">186830</uri></td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">(g) CD3ζ deficiency<xref ref-type="table-fn" rid="tfn1"><sup>a</sup></xref></td><td align="left" valign="top" rowspan="1" colspan="1">Mutation of <italic>CD3Z</italic> Defect in CD3ζ chain of T-cell antigen receptor complex</td><td align="left" valign="top" rowspan="1" colspan="1">AR</td><td align="left" valign="top" rowspan="1" colspan="1">Markedly decreased</td><td align="left" valign="top" rowspan="1" colspan="1">Normal</td><td align="left" valign="top" rowspan="1" colspan="1">Decreased</td><td align="left" valign="top" rowspan="1" colspan="1">Normal NK cells No γ/δ T cells</td><td align="left" valign="top" rowspan="1" colspan="1"><uri xlink:type="simple" xlink:href="http://www.omim.org/entry/186740">186740</uri></td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">(h) Coronin-1A deficiency<xref ref-type="table-fn" rid="tfn1"><sup>a</sup></xref></td><td align="left" valign="top" rowspan="1" colspan="1">Mutation of <italic>CORO1A</italic> Defective thymic egress of T cells and defective T cell locomotion</td><td align="left" valign="top" rowspan="1" colspan="1">AR</td><td align="left" valign="top" rowspan="1" colspan="1">Markedly decreased</td><td align="left" valign="top" rowspan="1" colspan="1">Normal</td><td align="left" valign="top" rowspan="1" colspan="1">Decreased</td><td align="left" valign="top" rowspan="1" colspan="1">Detectable thymus EBV-associated B-cell lymphoproliferation</td><td align="left" valign="top" rowspan="1" colspan="1"><uri xlink:type="simple" xlink:href="http://www.omim.org/entry/605000">605000</uri></td></tr><tr><td align="left" valign="top" colspan="8" rowspan="1">2. T<sup>−</sup>B<sup>−</sup>SCID</td></tr><tr><td align="left" valign="top" colspan="8" rowspan="1">(i) DNA recombination defects</td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">(a) RAG 1 deficiency</td><td align="left" valign="top" rowspan="1" colspan="1">Mutation of <italic>RAG1</italic> Defective VDJ recombination Defect of recombinase activating gene (RAG) 1</td><td align="left" valign="top" rowspan="1" colspan="1">AR</td><td align="left" valign="top" rowspan="1" colspan="1">Markedly decreased</td><td align="left" valign="top" rowspan="1" colspan="1">Markedly decreased</td><td align="left" valign="top" rowspan="1" colspan="1">Decreased</td><td align="left" valign="top" rowspan="1" colspan="1"></td><td align="left" valign="top" rowspan="1" colspan="1"><uri xlink:type="simple" xlink:href="http://www.omim.org/entry/601457">601457</uri></td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">(a) RAG 2 deficiency</td><td align="left" valign="top" rowspan="1" colspan="1">Mutation of <italic>RAG2</italic> Defective VDJ recombination; defect of recombinase activating gene (RAG) 2</td><td align="left" valign="top" rowspan="1" colspan="1">AR</td><td align="left" valign="top" rowspan="1" colspan="1">Markedly decreased</td><td align="left" valign="top" rowspan="1" colspan="1">Markedly decreased</td><td align="left" valign="top" rowspan="1" colspan="1">Decreased</td><td align="left" valign="top" rowspan="1" colspan="1"></td><td align="left" valign="top" rowspan="1" colspan="1"><uri xlink:type="simple" xlink:href="http://www.omim.org/entry/601457">601457</uri></td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">(b) DCLRE1C (Artemis) deficiency</td><td align="left" valign="top" rowspan="1" colspan="1">Mutation of <italic>ARTEMIS</italic> Defective VDJ recombination; defect in Artemis DNA recombinase-repair protein</td><td align="left" valign="top" rowspan="1" colspan="1">AR</td><td align="left" valign="top" rowspan="1" colspan="1">Markedly decreased</td><td align="left" valign="top" rowspan="1" colspan="1">Markedly decreased</td><td align="left" valign="top" rowspan="1" colspan="1">Decreased</td><td align="left" valign="top" rowspan="1" colspan="1">Radiation sensitivity</td><td align="left" valign="top" rowspan="1" colspan="1"><uri xlink:type="simple" xlink:href="http://www.omim.org/entry/602450">602450</uri></td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">(c) DNA PKcs deficiency<xref ref-type="table-fn" rid="tfn1"><sup>a</sup></xref></td><td align="left" valign="top" rowspan="1" colspan="1">Mutation of <italic>PRKDC</italic> Defective VDJ recombination; defect in DNA PKcs; Recombinase repair protein</td><td align="left" valign="top" rowspan="1" colspan="1">AR</td><td align="left" valign="top" rowspan="1" colspan="1">Markedly decreased</td><td align="left" valign="top" rowspan="1" colspan="1">Markedly decreased</td><td align="left" valign="top" rowspan="1" colspan="1">Decreased</td><td align="left" valign="top" rowspan="1" colspan="1">Radiation sensitivity, microcephaly, and developmental defects</td><td align="left" valign="top" rowspan="1" colspan="1"><uri xlink:type="simple" xlink:href="http://www.omim.org/entry/600899">600899</uri></td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">d) Cernunnos/XLF deficiency</td><td align="left" valign="top" rowspan="1" colspan="1">Mutation of <italic>Cernunnos</italic> Defective VDJ recombination; defect in Cernunnos</td><td align="left" valign="top" rowspan="1" colspan="1">AR</td><td align="left" valign="top" rowspan="1" colspan="1">Markedly decreased</td><td align="left" valign="top" rowspan="1" colspan="1">Markedly decreased</td><td align="left" valign="top" rowspan="1" colspan="1">Decreased</td><td align="left" valign="top" rowspan="1" colspan="1">Radiation sensitivity, microcephaly, and developmental defects</td><td align="left" valign="top" rowspan="1" colspan="1"><uri xlink:type="simple" xlink:href="http://www.omim.org/entry/611291">611291</uri></td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">e) DNA ligase IV deficiency</td><td align="left" valign="top" rowspan="1" colspan="1">Mutation of <italic>LIG4</italic> Defective VDJ recombination; defect in DNA ligase IV</td><td align="left" valign="top" rowspan="1" colspan="1">AR</td><td align="left" valign="top" rowspan="1" colspan="1">Markedly decreased</td><td align="left" valign="top" rowspan="1" colspan="1">Markedly decreased</td><td align="left" valign="top" rowspan="1" colspan="1">Decreased</td><td align="left" valign="top" rowspan="1" colspan="1">Radiation sensitivity, microcephaly, and developmental defects</td><td align="left" valign="top" rowspan="1" colspan="1"><uri xlink:type="simple" xlink:href="http://www.omim.org/entry/601837">601837</uri></td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">(ii) Reticular dysgenesis, AK2 deficiency</td><td align="left" valign="top" rowspan="1" colspan="1">Mutation of <italic>AK2</italic> Defective maturation of lymphoid and myeloid cells (stem cell defect) Defect in mitochondrial adenylate kinase 2.</td><td align="left" valign="top" rowspan="1" colspan="1">AR</td><td align="left" valign="top" rowspan="1" colspan="1">Markedly decreased</td><td align="left" valign="top" rowspan="1" colspan="1">Decreased or normal</td><td align="left" valign="top" rowspan="1" colspan="1">Decreased</td><td align="left" valign="top" rowspan="1" colspan="1">Granulocytopenia and deafness</td><td align="left" valign="top" rowspan="1" colspan="1"><uri xlink:type="simple" xlink:href="http://www.omim.org/entry/103020">103020</uri></td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">(iii) Adenosine deaminase (ADA) deficiency</td><td align="left" valign="top" rowspan="1" colspan="1">Mutation of <italic>ADA</italic> Absent ADA activity, elevated lymphotoxic metabolites (dATP, <italic>S</italic>-adenosyl homocysteine)</td><td align="left" valign="top" rowspan="1" colspan="1">AR</td><td align="left" valign="top" rowspan="1" colspan="1">Absent from birth (null mutations) or progressive decrease</td><td align="left" valign="top" rowspan="1" colspan="1">Absent from birth of progressive decrease</td><td align="left" valign="top" rowspan="1" colspan="1">Progressive decrease</td><td align="left" valign="top" rowspan="1" colspan="1">Decreased NK cells, often with costochondral junction flaring, neurological features, hearing impairment, lung and liver manifestations; partial ADA deficiency may lead to delayed or milder presentation</td><td align="left" valign="top" rowspan="1" colspan="1"><uri xlink:type="simple" xlink:href="http://www.omim.org/entry/102700">102700</uri></td></tr><tr><td align="left" valign="top" colspan="8" rowspan="1"><bold>Combined immunodeficiencies generally less profound than severe combined immunodeficiency</bold></td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">3. CD40 ligand deficiency</td><td align="left" valign="top" rowspan="1" colspan="1">Mutation of <italic>CD40LG</italic> Defects in CD40 ligand (CD40L; also called TNFSF5 or CD154) cause defective isotype switching and impaired dendritic cell signaling</td><td align="left" valign="top" rowspan="1" colspan="1">XL</td><td align="left" valign="top" rowspan="1" colspan="1">Normal; may progressively decrease</td><td align="left" valign="top" rowspan="1" colspan="1">sIgM<sup>+</sup> and sIgD<sup>+</sup> B cells present, other surface isotype positive B cells absent</td><td align="left" valign="top" rowspan="1" colspan="1">IgM increased or normal, other isotypes decreased</td><td align="left" valign="top" rowspan="1" colspan="1">Neutropenia, thrombocytopenia; hemolytic anemia, biliary tract and liver disease, opportunistic infections</td><td align="left" valign="top" rowspan="1" colspan="1"><uri xlink:type="simple" xlink:href="http://www.omim.org/entry/300386">300386</uri></td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">4. CD40 deficiency<xref ref-type="table-fn" rid="tfn1"><sup>a</sup></xref></td><td align="left" valign="top" rowspan="1" colspan="1">Mutation of <italic>CD40</italic> (also called TNFRSF5); defects in CD40 cause defective isotype switching and impaired dendritic cell signaling</td><td align="left" valign="top" rowspan="1" colspan="1">AR</td><td align="left" valign="top" rowspan="1" colspan="1">Normal</td><td align="left" valign="top" rowspan="1" colspan="1">IgM<sup>+</sup> and IgD<sup>+</sup> B cells present, other isotypes absent</td><td align="left" valign="top" rowspan="1" colspan="1">IgM increased or normal, other isotypes decreased</td><td align="left" valign="top" rowspan="1" colspan="1">Neutropenia, gastrointestinal and liver/biliary tract disease, opportunistic infections</td><td align="left" valign="top" rowspan="1" colspan="1"><uri xlink:type="simple" xlink:href="http://www.omim.org/entry/109535">109535</uri></td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">5. Purine nucleoside phosphorylase (PNP) deficiency</td><td align="left" valign="top" rowspan="1" colspan="1">Mutation of <italic>PNP</italic> Absent PNP, T cell and neurologic defects from elevated toxic metabolites, especially dGTP</td><td align="left" valign="top" rowspan="1" colspan="1">AR</td><td align="left" valign="top" rowspan="1" colspan="1">Progressive decrease</td><td align="left" valign="top" rowspan="1" colspan="1">Normal</td><td align="left" valign="top" rowspan="1" colspan="1">Normal or decreased</td><td align="left" valign="top" rowspan="1" colspan="1">Autoimmune hemolytic anemia, neurological impairment</td><td align="left" valign="top" rowspan="1" colspan="1"><uri xlink:type="simple" xlink:href="http://www.omim.org/entry/164050">164050</uri></td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">6. CD3γ deficiency<xref ref-type="table-fn" rid="tfn1"><sup>a</sup></xref></td><td align="left" valign="top" rowspan="1" colspan="1">Mutation of <italic>CD3G</italic> Defect in CD3 γ-component of the T cell antigen receptor complex</td><td align="left" valign="top" rowspan="1" colspan="1">AR</td><td align="left" valign="top" rowspan="1" colspan="1">Normal, but reduced TCR expression</td><td align="left" valign="top" rowspan="1" colspan="1">Normal</td><td align="left" valign="top" rowspan="1" colspan="1">Normal</td><td align="left" valign="top" rowspan="1" colspan="1"></td><td align="left" valign="top" rowspan="1" colspan="1"><uri xlink:type="simple" xlink:href="http://www.omim.org/entry/186740">186740</uri></td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">7. CD8 deficiency<xref ref-type="table-fn" rid="tfn1"><sup>a</sup></xref></td><td align="left" valign="top" rowspan="1" colspan="1">Mutation of <italic>CD8A</italic> Defects of CD8 α chain – important for maturation and function of CD8 T cells</td><td align="left" valign="top" rowspan="1" colspan="1">AR</td><td align="left" valign="top" rowspan="1" colspan="1">Absent CD8, normal CD4 cells</td><td align="left" valign="top" rowspan="1" colspan="1">Normal</td><td align="left" valign="top" rowspan="1" colspan="1">Normal</td><td align="left" valign="top" rowspan="1" colspan="1"></td><td align="left" valign="top" rowspan="1" colspan="1"><uri xlink:type="simple" xlink:href="http://www.omim.org/entry/186910">186910</uri></td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">8. ZAP-70 deficiency</td><td align="left" valign="top" rowspan="1" colspan="1">Mutation in ZAP70 intracellular signaling kinase, acts downstream of TCR</td><td align="left" valign="top" rowspan="1" colspan="1">AR</td><td align="left" valign="top" rowspan="1" colspan="1">Decreased CD8, normal CD4 cells</td><td align="left" valign="top" rowspan="1" colspan="1">Normal</td><td align="left" valign="top" rowspan="1" colspan="1">Normal</td><td align="left" valign="top" rowspan="1" colspan="1">Autoimmunity in some cases</td><td align="left" valign="top" rowspan="1" colspan="1"><uri xlink:type="simple" xlink:href="http://www.omim.org/entry/176947">176947</uri></td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">9. MHC class I deficiency</td><td align="left" valign="top" rowspan="1" colspan="1">Mutations in <italic>TAP1, TAP2</italic> or <italic>TAPBP</italic> (tapasin) genes giving MHC class I deficiency</td><td align="left" valign="top" rowspan="1" colspan="1">AR</td><td align="left" valign="top" rowspan="1" colspan="1">Decreased CD8, normal CD4</td><td align="left" valign="top" rowspan="1" colspan="1">Normal</td><td align="left" valign="top" rowspan="1" colspan="1">Normal</td><td align="left" valign="top" rowspan="1" colspan="1">Vasculitis; pyoderma gangrenosum</td><td align="left" valign="top" rowspan="1" colspan="1"><uri xlink:type="simple" xlink:href="http://www.omim.org/entry/604571">604571</uri></td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">10. MHC class II deficiency</td><td align="left" valign="top" rowspan="1" colspan="1">Mutation in transcription factors for MHC class II proteins (<italic>CIITA, RFX5, RFXAP, RFXANK</italic> genes)</td><td align="left" valign="top" rowspan="1" colspan="1">AR</td><td align="left" valign="top" rowspan="1" colspan="1">Normal number, decreased CD4 cells</td><td align="left" valign="top" rowspan="1" colspan="1">Normal</td><td align="left" valign="top" rowspan="1" colspan="1">Normal or decreased</td><td align="left" valign="top" rowspan="1" colspan="1">Failure to thrive, diarrhea, respiratory tract infections liver/biliary tract disease</td><td align="left" valign="top" rowspan="1" colspan="1"><uri xlink:type="simple" xlink:href="http://www.omim.org/entry/209920">209920</uri></td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">11. ITK deficiency<xref ref-type="table-fn" rid="tfn1"><sup>a</sup></xref></td><td align="left" valign="top" rowspan="1" colspan="1">Mutations in <italic>ITK</italic> encoding IL-2 inducible T cell kinase required for TCR-mediated activation</td><td align="left" valign="top" rowspan="1" colspan="1">AR</td><td align="left" valign="top" rowspan="1" colspan="1">Progressive decrease</td><td align="left" valign="top" rowspan="1" colspan="1">Normal</td><td align="left" valign="top" rowspan="1" colspan="1">Normal or decreased</td><td align="left" valign="top" rowspan="1" colspan="1">EBV associated B cell lymphoproliferation, lymphoma; normal or decreased IgG</td><td align="left" valign="top" rowspan="1" colspan="1"><uri xlink:type="simple" xlink:href="http://www.omim.org/entry/613011">613011</uri></td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">12. SH2D1A deficiency (XLP1)</td><td align="left" valign="top" rowspan="1" colspan="1">Mutations in <italic>SH2D1A</italic> encoding an adaptor protein regulating intracellular signals</td><td align="left" valign="top" rowspan="1" colspan="1">XL</td><td align="left" valign="top" rowspan="1" colspan="1">Normal or Increased activated T cells</td><td align="left" valign="top" rowspan="1" colspan="1">Reduced Memory B cells</td><td align="left" valign="top" rowspan="1" colspan="1">Partially defective NK cell and CTL cytotoxic activity</td><td align="left" valign="top" rowspan="1" colspan="1">Clinical and immunologic features triggered by EBV infection: HLH, lymphoproliferation, Aplastic anemia, lymphoma; hypogammaglobulinemia, absent iNKT cell</td><td align="left" valign="top" rowspan="1" colspan="1"><uri xlink:type="simple" xlink:href="http://www.omim.org/entry/308240">308240</uri></td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">13. Cartilage hair hypoplasia</td><td align="left" valign="top" rowspan="1" colspan="1">Mutations in <italic>RMRP</italic> (RNase MRP RNA) Involved in processing of mitochondrial RNA and cell cycle control</td><td align="left" valign="top" rowspan="1" colspan="1">AR</td><td align="left" valign="top" rowspan="1" colspan="1">Varies from severely decreased (SCID) to normal; impaired lymphocyte proliferation</td><td align="left" valign="top" rowspan="1" colspan="1">Normal</td><td align="left" valign="top" rowspan="1" colspan="1">Normal or reduced. Antibodies variably decreased</td><td align="left" valign="top" rowspan="1" colspan="1">Can present just as combined immunodeficiency without other features of short limbed dwarfism, also see Table 2</td><td align="left" valign="top" rowspan="1" colspan="1"><uri xlink:type="simple" xlink:href="http://www.omim.org/entry/250250">250250</uri></td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">14. MAGT1 deficiency<xref ref-type="table-fn" rid="tfn1"><sup>a</sup></xref></td><td align="left" valign="top" rowspan="1" colspan="1">Mutations in <italic>MAGT1</italic>, impaired Mg<sup>++</sup> flux leading to impaired TCR signaling</td><td align="left" valign="top" rowspan="1" colspan="1">XL</td><td align="left" valign="top" rowspan="1" colspan="1">Decreased CD4 cells reduced numbers of RTE, impaired T-cell proliferation in response to CD3</td><td align="left" valign="top" rowspan="1" colspan="1">Normal</td><td align="left" valign="top" rowspan="1" colspan="1">Normal</td><td align="left" valign="top" rowspan="1" colspan="1">EBV infection, lymphoma; viral infections, respiratory, and GI infections</td><td align="left" valign="top" rowspan="1" colspan="1"><uri xlink:type="simple" xlink:href="http://www.omim.org/entry/300715">300715</uri></td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">15. DOCK8 deficiency</td><td align="left" valign="top" rowspan="1" colspan="1">Mutations in <italic>DOCK8</italic> – regulator of intracellular actin reorganization</td><td align="left" valign="top" rowspan="1" colspan="1">AR</td><td align="left" valign="top" rowspan="1" colspan="1">Decreased Impaired T lymphocyte proliferation</td><td align="left" valign="top" rowspan="1" colspan="1">Decreased, low CD27+ memory B cells</td><td align="left" valign="top" rowspan="1" colspan="1">Low IgM, increased IgE</td><td align="left" valign="top" rowspan="1" colspan="1">Low NK cells with impaired function, hypereosinophilia, recurrent infections; severe atopy, extensive cutaneous viral and bacterial (staph.) infections, susceptibility to cancer</td><td align="left" valign="top" rowspan="1" colspan="1"><uri xlink:type="simple" xlink:href="http://www.omim.org/entry/243700">243700</uri></td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">16. RhoH Deficiency<xref ref-type="table-fn" rid="tfn1"><sup>a</sup></xref></td><td align="left" valign="top" rowspan="1" colspan="1">Mutations in <italic>RHOH</italic> – an atypical Rho GTPase transducing signals downstream of various membrane receptors</td><td align="left" valign="top" rowspan="1" colspan="1">AR</td><td align="left" valign="top" rowspan="1" colspan="1">Normal low naïve T cells and RTE, restricted T cell repertoire and impaired T cells proliferation in response to CD3 stimulation</td><td align="left" valign="top" rowspan="1" colspan="1">Normal</td><td align="left" valign="top" rowspan="1" colspan="1">Normal</td><td align="left" valign="top" rowspan="1" colspan="1">HPV infection, lymphoma, lung granulomas, molluscum contagiosum</td><td align="left" valign="top" rowspan="1" colspan="1"><uri xlink:type="simple" xlink:href="http://www.omim.org/entry/602037">602037</uri></td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">17. MST1 deficiency</td><td align="left" valign="top" rowspan="1" colspan="1">Mutations in <italic>STK4</italic> – a serine/threonine kinase</td><td align="left" valign="top" rowspan="1" colspan="1">AR</td><td align="left" valign="top" rowspan="1" colspan="1">Decreased increased proportion of terminal differentiated effector memory cells (TEMRA), low naïve T cells, restricted T cell repertoire in the TEMRA population and impaired T cells proliferation</td><td align="left" valign="top" rowspan="1" colspan="1">Decreased</td><td align="left" valign="top" rowspan="1" colspan="1">High</td><td align="left" valign="top" rowspan="1" colspan="1">Recurrent bacterial, viral, and candidal infections; intermittent neutropenia; EBV-driven lymphoproliferation; lymphoma; Congenital heart disease, autoimmune cytopenias; HPV infection</td><td align="left" valign="top" rowspan="1" colspan="1"><uri xlink:type="simple" xlink:href="http://www.omim.org/entry/614868">614868</uri></td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">18. TCRα deficiency<xref ref-type="table-fn" rid="tfn1"><sup>a</sup></xref></td><td align="left" valign="top" rowspan="1" colspan="1">Mutations in <italic>TRAC</italic> – essential component of the T cell receptor</td><td align="left" valign="top" rowspan="1" colspan="1">AR</td><td align="left" valign="top" rowspan="1" colspan="1">Normal All CD3 T cells expressed TCRγδ (or may be better to say: TCRαβ T-cell deficiency), impaired T cells proliferation</td><td align="left" valign="top" rowspan="1" colspan="1">Normal</td><td align="left" valign="top" rowspan="1" colspan="1">Normal</td><td align="left" valign="top" rowspan="1" colspan="1">Recurrent viral, bacterial and fungal infections, immune dysregulation autoimmunity, and diarrhea.</td><td align="left" valign="top" rowspan="1" colspan="1"><uri xlink:type="simple" xlink:href="http://www.omim.org/entry/615387">615387</uri></td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">19. LCK deficiency<xref ref-type="table-fn" rid="tfn1"><sup>a</sup></xref></td><td align="left" valign="top" rowspan="1" colspan="1">Defects in <italic>LCK</italic> – a proximal tyrosine kinase that interacts with TCR</td><td align="left" valign="top" rowspan="1" colspan="1">AR</td><td align="left" valign="top" rowspan="1" colspan="1">Normal total numbers but CD4+ T-cell lymphopenia, low Treg numbers, restricted T cell repertoire and impaired TCR signaling</td><td align="left" valign="top" rowspan="1" colspan="1">Normal</td><td align="left" valign="top" rowspan="1" colspan="1">Normal IgG and IgA and increased IgM</td><td align="left" valign="top" rowspan="1" colspan="1">Diarrhea, recurrent infections, immune dysregulation autoimmunity</td><td align="left" valign="top" rowspan="1" colspan="1"><uri xlink:type="simple" xlink:href="http://www.omim.org/entry/153390">153390</uri></td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">20. MALT1 deficiency<xref ref-type="table-fn" rid="tfn1"><sup>a</sup></xref></td><td align="left" valign="top" rowspan="1" colspan="1">Mutations in <italic>MALT1</italic> – a caspase-like cysteine protease that is essential for nuclear factor-kappa-B activation</td><td align="left" valign="top" rowspan="1" colspan="1">AR</td><td align="left" valign="top" rowspan="1" colspan="1">Normal impaired T cells proliferation</td><td align="left" valign="top" rowspan="1" colspan="1">Normal</td><td align="left" valign="top" rowspan="1" colspan="1">Normal; impaired antibody response</td><td align="left" valign="top" rowspan="1" colspan="1">Bacterial, fungal, and viral infections</td><td align="left" valign="top" rowspan="1" colspan="1"><uri xlink:type="simple" xlink:href="http://www.omim.org/entry/604860">604860</uri></td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">21. IL21R deficiency<xref ref-type="table-fn" rid="tfn1"><sup>a</sup></xref></td><td align="left" valign="top" rowspan="1" colspan="1">Defects in <italic>IL21R</italic> – together with common gamma chain binds IL-21</td><td align="left" valign="top" rowspan="1" colspan="1">AR</td><td align="left" valign="top" rowspan="1" colspan="1">Abnormal T cell cytokine production; Abnormal T cell proliferation to specific stimuli</td><td align="left" valign="top" rowspan="1" colspan="1">Normal</td><td align="left" valign="top" rowspan="1" colspan="1">Normal but impaired specific responses</td><td align="left" valign="top" rowspan="1" colspan="1">Susceptibility to cryptoporidia and pneumocystis and cholangitis</td><td align="left" valign="top" rowspan="1" colspan="1"><uri xlink:type="simple" xlink:href="http://www.omim.org/entry/605383">605383</uri></td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">22. UNC119 deficiency<xref ref-type="table-fn" rid="tfn1"><sup>a</sup></xref></td><td align="left" valign="top" rowspan="1" colspan="1">Defects in <italic>UNC119</italic> – an activator of src tyrosine kinases</td><td align="left" valign="top" rowspan="1" colspan="1">AD</td><td align="left" valign="top" rowspan="1" colspan="1">Low T cells; CD4+ T-cell lymphopenia, impaired TCR signaling</td><td align="left" valign="top" rowspan="1" colspan="1">Mostly low</td><td align="left" valign="top" rowspan="1" colspan="1">Normal</td><td align="left" valign="top" rowspan="1" colspan="1">Recurrent bacterial, fungal, and viral infections</td><td align="left" valign="top" rowspan="1" colspan="1"><uri xlink:type="simple" xlink:href="http://www.omim.org/entry/604011">604011</uri></td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">23. CARD11 deficiency<xref ref-type="table-fn" rid="tfn1"><sup>a</sup></xref></td><td align="left" valign="top" rowspan="1" colspan="1">Defects in <italic>CARD11</italic> – acts as a scaffold for NF-κB activity in the adaptive immune response</td><td align="left" valign="top" rowspan="1" colspan="1">AR</td><td align="left" valign="top" rowspan="1" colspan="1">Normal predominance of naive T-lymphocyte, impaired T cells proliferation</td><td align="left" valign="top" rowspan="1" colspan="1">Normal predominance of transitional B lymphocytes</td><td align="left" valign="top" rowspan="1" colspan="1">Absent/low</td><td align="left" valign="top" rowspan="1" colspan="1"><italic>Pneumocystis jirovicii</italic> pneumonia, bacterial infections</td><td align="left" valign="top" rowspan="1" colspan="1"><uri xlink:type="simple" xlink:href="http://www.omim.org/entry/615206">615206</uri></td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">24. OX40 deficiency<xref ref-type="table-fn" rid="tfn1"><sup>a</sup></xref></td><td align="left" valign="top" rowspan="1" colspan="1">Defects in <italic>OX40</italic> – a co stimulatory molecule expressed on activated T cells</td><td align="left" valign="top" rowspan="1" colspan="1">AR</td><td align="left" valign="top" rowspan="1" colspan="1">Normal T cell numbers; low levels of antigen specific memory CD4+ cells</td><td align="left" valign="top" rowspan="1" colspan="1">Normal B cell numbers; lower frequency of memory B cells</td><td align="left" valign="top" rowspan="1" colspan="1">Normal</td><td align="left" valign="top" rowspan="1" colspan="1">Kaposi’s sarcoma; impaired immunity to HHV8</td><td align="left" valign="top" rowspan="1" colspan="1"><uri xlink:type="simple" xlink:href="http://www.omim.org/entry/615593">615593</uri></td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">25. IKBKB deficiency<xref ref-type="table-fn" rid="tfn1"><sup>a</sup></xref></td><td align="left" valign="top" rowspan="1" colspan="1">Defects in <italic>IKBKB</italic> – encodes IκB kinase 2, a component of the NF-κB pathway</td><td align="left" valign="top" rowspan="1" colspan="1">AR</td><td align="left" valign="top" rowspan="1" colspan="1">Normal total T cells; absent regulatory and γδ T cells; impaired TCR activation</td><td align="left" valign="top" rowspan="1" colspan="1">Normal B cell numbers; impaired BCR activation</td><td align="left" valign="top" rowspan="1" colspan="1">Decreased</td><td align="left" valign="top" rowspan="1" colspan="1">Recurrent bacterial, viral and fungal infections; clinical phenotype of SCID</td><td align="left" valign="top" rowspan="1" colspan="1"><uri xlink:type="simple" xlink:href="http://www.omim.org/entry/615592">615592</uri></td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">26. Activated PI3K-δ</td><td align="left" valign="top" rowspan="1" colspan="1">Mutation in <italic>PIK3CD</italic>, PI3K-δ</td><td align="left" valign="top" rowspan="1" colspan="1">AD gain of function</td><td align="left" valign="top" rowspan="1" colspan="1">Decreased total numbers of T cells</td><td align="left" valign="top" rowspan="1" colspan="1">Decreased total peripheral B cell and switched memory B cells; increased transitional B cells</td><td align="left" valign="top" rowspan="1" colspan="1">Reduced IgG2 and impaired antibody to pneumococci and hemophilus</td><td align="left" valign="top" rowspan="1" colspan="1">Respiratory infections, bronchiectasis; autoimmunity; chronic EBV, and CMV infection</td><td align="left" valign="top" rowspan="1" colspan="1"><uri xlink:type="simple" xlink:href="http://www.omim.org/entry/602839">602839</uri></td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">27. LRBA deficiency</td><td align="left" valign="top" rowspan="1" colspan="1">Mutations in <italic>LRBA</italic> (lipopolysaccharide responsive beige-like anchor protein)</td><td align="left" valign="top" rowspan="1" colspan="1">AR</td><td align="left" valign="top" rowspan="1" colspan="1">Normal or decreased CD4 numbers; T cell dysregulation</td><td align="left" valign="top" rowspan="1" colspan="1">Low or normal numbers of B cells</td><td align="left" valign="top" rowspan="1" colspan="1">Reduced I IgG and IgA in most</td><td align="left" valign="top" rowspan="1" colspan="1">Recurrent infections, inflammatory bowel disease, autoimmunity; EBV infections</td><td align="left" valign="top" rowspan="1" colspan="1"><uri xlink:type="simple" xlink:href="http://www.omim.org/entry/606453">606453</uri></td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">28. CD27 deficiency<xref ref-type="table-fn" rid="tfn1"><sup>a</sup></xref></td><td align="left" valign="top" rowspan="1" colspan="1">Mutations in <italic>CD27</italic>, encoding TNF-R member superfamily required for generation and long-term maintenance of T cell immunity</td><td align="left" valign="top" rowspan="1" colspan="1">AR</td><td align="left" valign="top" rowspan="1" colspan="1">Normal</td><td align="left" valign="top" rowspan="1" colspan="1">No memory B cells</td><td align="left" valign="top" rowspan="1" colspan="1">Hypogamma- globulinemia following EBV infection</td><td align="left" valign="top" rowspan="1" colspan="1">Clinical and immunologic features triggered by EBV infection, HLH; aplastic anemia, lymphoma, hypogammaglobulinemia, Low iNKT cells</td><td align="left" valign="top" rowspan="1" colspan="1"><uri xlink:type="simple" xlink:href="http://omim.org/entry/615122">615122</uri></td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">29. Omenn syndrome</td><td align="left" valign="top" rowspan="1" colspan="1">Hypomorphic mutations in <italic>RAG1, RAG2</italic>, Artemis, <italic>IL7RA, RMRP, ADA, DNA Ligase IV, IL2RG, AK2</italic>, or associated with DiGeorge syndrome; some cases have no defined gene mutation</td><td align="left" valign="top" rowspan="1" colspan="1"></td><td align="left" valign="top" rowspan="1" colspan="1">Present; restricted T cell repertoire and impaired function</td><td align="left" valign="top" rowspan="1" colspan="1">Normal or decreased</td><td align="left" valign="top" rowspan="1" colspan="1">Decreased, except increased IgE</td><td align="left" valign="top" rowspan="1" colspan="1">Erythroderma, eosinophilia, adenopathies, hepatosplenomegaly</td><td align="left" valign="top" rowspan="1" colspan="1"><uri xlink:type="simple" xlink:href="http://www.omim.org/entry/603554">603554</uri></td></tr></tbody></table><table-wrap-foot><p><italic>XL, X-linked inheritance; AR, autosomal recessive inheritance; AD, autosomal dominant inheritance; SCID, severe combined immune deficiencies; EBV, Epstein–Barr virus; Ca<sup>++</sup>, calcium; MHC, major histocompatibility complex, RTE, recent thymic emigrants, HPV, human papillomavirus</italic>.</p><fn id="tfn1"><p><italic><sup>a</sup>Ten or fewer unrelated cases reported in the literature</italic>.</p></fn><p><italic>Infants with SCID who have maternal T cells engraftment may have T cells that do not function normally; these cells may cause autoimmune cytopenias or graft versus host disease. Hypomorphic mutations in several of the genes that cause SCID may result in Omenn syndrome (OS), or “leaky” SCID or a less profound CID phenotype. Both OS and leaky SCID can be associated with higher numbers of T cells and reduced rather than absent activation responses when compared with typical SCID caused by null mutations. A spectrum of clinical findings including typical SCID, OS, leaky SCID, granulomas with T lymphopenia, autoimmunity, and CD4+ T lymphopenia can be found with RAG gene defects. RAC2 deficiency is a disorder of leukocyte motility and is reported in Table 5; however, one patient with RAC2 deficiency was found to have absent T cell receptor excision circles (TRECs) by newborn screening, but T cell numbers and mitogen responses were not impaired. For additional syndromic conditions with T cell lymphopenia, such as DNA repair defects, cartilage hair hypoplasia, IKAROS deficiency, and NEMO syndrome, see Table 2 and 6; however, it should be noted that individuals with the most severe manifestations of these disorders could have clinical signs and symptoms of SCID. Severe folate deficiency (such as with malabsorption due to defects in folate carrier or transporter genes SLC10A1 or PCFT) and some metabolic disorders, such as methylmalonic aciduria, may present with reversible profound lymphopenia in addition to their characteristic presenting features</italic>.</p></table-wrap-foot></table-wrap><sec id="S1"><title>Conflict of Interest Statement</title><p>The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.</p></sec></body></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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