LymphedemaV1, Pmc, Corpus, bibRecord, 002C68

Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome

Identifieur interne : 002C68 ( Pmc/Corpus ); précédent : 002C67; suivant : 002C69

Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome

Auteurs : Amy P. Hsu ; Elizabeth P. Sampaio ; Javed Khan ; Katherine R. Calvo ; Jacob E. Lemieux ; Smita Y. Patel ; David M. Frucht ; Donald C. Vinh ; Roger D. Auth ; Alexandra F. Freeman ; Kenneth N. Olivier ; Gulbu Uzel ; Christa S. Zerbe ; Christine Spalding ; Stefania Pittaluga ; Mark Raffeld ; Douglas B. Kuhns ; Li Ding ; Michelle L. Paulson ; Beatriz E. Marciano ; Juan C. Gea-Banacloche ; Jordan S. Orange ; Jennifer Cuellar-Rodriguez ; Dennis D. Hickstein ; Steven M. Holland

Source :

Blood [ 0006-4971 ] ; 2011.

RBID : PMC:3172785

Abstract

The syndrome of monocytopenia, B-cell and NK-cell lymphopenia, and mycobacterial, fungal, and viral infections is associated with myelodysplasia, cytogenetic abnormalities, pulmonary alveolar proteinosis, and myeloid leukemias. Both autosomal dominant and sporadic cases occur. We identified 12 distinct mutations in GATA2 affecting 20 patients and relatives with this syndrome, including recurrent missense mutations affecting the zinc finger-2 domain (R398W and T354M), suggesting dominant interference of gene function. Four discrete insertion/deletion mutations leading to frame shifts and premature termination implicate haploinsufficiency as a possible mechanism of action as well. These mutations were found in hematopoietic and somatic tissues, and several were identified in families, indicating germline transmission. Thus, GATA2 joins RUNX1 and CEBPA not only as a familial leukemia gene but also as a cause of a complex congenital immunodeficiency that evolves over decades and combines predisposition to infection and myeloid malignancy.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3172785

DOI: 10.1182/blood-2011-05-356352
PubMed: 21670465
PubMed Central: 3172785

Links to Exploration step

PMC:3172785

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Mutations in <italic>GATA2</italic>
 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome</title>
<author><name sortKey="Hsu, Amy P" sort="Hsu, Amy P" uniqKey="Hsu A" first="Amy P." last="Hsu">Amy P. Hsu</name>
<affiliation><nlm:aff id="aff1">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Sampaio, Elizabeth P" sort="Sampaio, Elizabeth P" uniqKey="Sampaio E" first="Elizabeth P." last="Sampaio">Elizabeth P. Sampaio</name>
<affiliation><nlm:aff id="aff1">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Khan, Javed" sort="Khan, Javed" uniqKey="Khan J" first="Javed" last="Khan">Javed Khan</name>
<affiliation><nlm:aff id="aff2">Oncogenomics Section, Pediatric Oncology Branch, National Cancer Institute (NCI), Bethesda, MD;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Calvo, Katherine R" sort="Calvo, Katherine R" uniqKey="Calvo K" first="Katherine R." last="Calvo">Katherine R. Calvo</name>
<affiliation><nlm:aff id="aff3">Hematology Section, Department of Laboratory Medicine, Warren Grant Magnuson Clinical Cancer Center, Bethesda, MD;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Lemieux, Jacob E" sort="Lemieux, Jacob E" uniqKey="Lemieux J" first="Jacob E." last="Lemieux">Jacob E. Lemieux</name>
<affiliation><nlm:aff id="aff4">Laboratory of Malaria and Vector Research, NIAID, NIH, Bethesda, MD;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Patel, Smita Y" sort="Patel, Smita Y" uniqKey="Patel S" first="Smita Y." last="Patel">Smita Y. Patel</name>
<affiliation><nlm:aff id="aff5">John Radcliffe Hospital, Oxford University, Oxford, United Kingdom;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Frucht, David M" sort="Frucht, David M" uniqKey="Frucht D" first="David M." last="Frucht">David M. Frucht</name>
<affiliation><nlm:aff id="aff6">Center for Drug Evaluation and Research, Federal Drug Administration, Silver Spring, MD;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Vinh, Donald C" sort="Vinh, Donald C" uniqKey="Vinh D" first="Donald C." last="Vinh">Donald C. Vinh</name>
<affiliation><nlm:aff id="aff1">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Auth, Roger D" sort="Auth, Roger D" uniqKey="Auth R" first="Roger D." last="Auth">Roger D. Auth</name>
<affiliation><nlm:aff id="aff6">Center for Drug Evaluation and Research, Federal Drug Administration, Silver Spring, MD;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Freeman, Alexandra F" sort="Freeman, Alexandra F" uniqKey="Freeman A" first="Alexandra F." last="Freeman">Alexandra F. Freeman</name>
<affiliation><nlm:aff id="aff1">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Olivier, Kenneth N" sort="Olivier, Kenneth N" uniqKey="Olivier K" first="Kenneth N." last="Olivier">Kenneth N. Olivier</name>
<affiliation><nlm:aff id="aff1">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Uzel, Gulbu" sort="Uzel, Gulbu" uniqKey="Uzel G" first="Gulbu" last="Uzel">Gulbu Uzel</name>
<affiliation><nlm:aff id="aff1">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Zerbe, Christa S" sort="Zerbe, Christa S" uniqKey="Zerbe C" first="Christa S." last="Zerbe">Christa S. Zerbe</name>
<affiliation><nlm:aff id="aff1">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Spalding, Christine" sort="Spalding, Christine" uniqKey="Spalding C" first="Christine" last="Spalding">Christine Spalding</name>
<affiliation><nlm:aff id="aff1">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Pittaluga, Stefania" sort="Pittaluga, Stefania" uniqKey="Pittaluga S" first="Stefania" last="Pittaluga">Stefania Pittaluga</name>
<affiliation><nlm:aff id="aff7">Laboratory of Pathology, NCI, Bethesda, MD;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Raffeld, Mark" sort="Raffeld, Mark" uniqKey="Raffeld M" first="Mark" last="Raffeld">Mark Raffeld</name>
<affiliation><nlm:aff id="aff7">Laboratory of Pathology, NCI, Bethesda, MD;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Kuhns, Douglas B" sort="Kuhns, Douglas B" uniqKey="Kuhns D" first="Douglas B." last="Kuhns">Douglas B. Kuhns</name>
<affiliation><nlm:aff id="aff8">SAIC-Frederick Inc, NCI-Frederick, Frederick, MD;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Ding, Li" sort="Ding, Li" uniqKey="Ding L" first="Li" last="Ding">Li Ding</name>
<affiliation><nlm:aff id="aff1">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Paulson, Michelle L" sort="Paulson, Michelle L" uniqKey="Paulson M" first="Michelle L." last="Paulson">Michelle L. Paulson</name>
<affiliation><nlm:aff id="aff1">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD;</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="aff8">SAIC-Frederick Inc, NCI-Frederick, Frederick, MD;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Marciano, Beatriz E" sort="Marciano, Beatriz E" uniqKey="Marciano B" first="Beatriz E." last="Marciano">Beatriz E. Marciano</name>
<affiliation><nlm:aff id="aff1">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Gea Banacloche, Juan C" sort="Gea Banacloche, Juan C" uniqKey="Gea Banacloche J" first="Juan C." last="Gea-Banacloche">Juan C. Gea-Banacloche</name>
<affiliation><nlm:aff wicri:cut="; and" id="aff9">Experimental Transplantation and Immunology Branch, NCI, Bethesda, MD</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Orange, Jordan S" sort="Orange, Jordan S" uniqKey="Orange J" first="Jordan S." last="Orange">Jordan S. Orange</name>
<affiliation><nlm:aff id="aff10">Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Cuellar Rodriguez, Jennifer" sort="Cuellar Rodriguez, Jennifer" uniqKey="Cuellar Rodriguez J" first="Jennifer" last="Cuellar-Rodriguez">Jennifer Cuellar-Rodriguez</name>
<affiliation><nlm:aff id="aff1">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Hickstein, Dennis D" sort="Hickstein, Dennis D" uniqKey="Hickstein D" first="Dennis D." last="Hickstein">Dennis D. Hickstein</name>
<affiliation><nlm:aff wicri:cut="; and" id="aff9">Experimental Transplantation and Immunology Branch, NCI, Bethesda, MD</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="aff1">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD;</nlm:aff>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PMC</idno>
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<idno type="pmc">3172785</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3172785</idno>
<idno type="RBID">PMC:3172785</idno>
<idno type="doi">10.1182/blood-2011-05-356352</idno>
<date when="2011">2011</date>
<idno type="wicri:Area/Pmc/Corpus">002C68</idno>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Mutations in <italic>GATA2</italic>
 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome</title>
<author><name sortKey="Hsu, Amy P" sort="Hsu, Amy P" uniqKey="Hsu A" first="Amy P." last="Hsu">Amy P. Hsu</name>
<affiliation><nlm:aff id="aff1">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Sampaio, Elizabeth P" sort="Sampaio, Elizabeth P" uniqKey="Sampaio E" first="Elizabeth P." last="Sampaio">Elizabeth P. Sampaio</name>
<affiliation><nlm:aff id="aff1">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Khan, Javed" sort="Khan, Javed" uniqKey="Khan J" first="Javed" last="Khan">Javed Khan</name>
<affiliation><nlm:aff id="aff2">Oncogenomics Section, Pediatric Oncology Branch, National Cancer Institute (NCI), Bethesda, MD;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Calvo, Katherine R" sort="Calvo, Katherine R" uniqKey="Calvo K" first="Katherine R." last="Calvo">Katherine R. Calvo</name>
<affiliation><nlm:aff id="aff3">Hematology Section, Department of Laboratory Medicine, Warren Grant Magnuson Clinical Cancer Center, Bethesda, MD;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Lemieux, Jacob E" sort="Lemieux, Jacob E" uniqKey="Lemieux J" first="Jacob E." last="Lemieux">Jacob E. Lemieux</name>
<affiliation><nlm:aff id="aff4">Laboratory of Malaria and Vector Research, NIAID, NIH, Bethesda, MD;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Patel, Smita Y" sort="Patel, Smita Y" uniqKey="Patel S" first="Smita Y." last="Patel">Smita Y. Patel</name>
<affiliation><nlm:aff id="aff5">John Radcliffe Hospital, Oxford University, Oxford, United Kingdom;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Frucht, David M" sort="Frucht, David M" uniqKey="Frucht D" first="David M." last="Frucht">David M. Frucht</name>
<affiliation><nlm:aff id="aff6">Center for Drug Evaluation and Research, Federal Drug Administration, Silver Spring, MD;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Vinh, Donald C" sort="Vinh, Donald C" uniqKey="Vinh D" first="Donald C." last="Vinh">Donald C. Vinh</name>
<affiliation><nlm:aff id="aff1">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Auth, Roger D" sort="Auth, Roger D" uniqKey="Auth R" first="Roger D." last="Auth">Roger D. Auth</name>
<affiliation><nlm:aff id="aff6">Center for Drug Evaluation and Research, Federal Drug Administration, Silver Spring, MD;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Freeman, Alexandra F" sort="Freeman, Alexandra F" uniqKey="Freeman A" first="Alexandra F." last="Freeman">Alexandra F. Freeman</name>
<affiliation><nlm:aff id="aff1">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Olivier, Kenneth N" sort="Olivier, Kenneth N" uniqKey="Olivier K" first="Kenneth N." last="Olivier">Kenneth N. Olivier</name>
<affiliation><nlm:aff id="aff1">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Uzel, Gulbu" sort="Uzel, Gulbu" uniqKey="Uzel G" first="Gulbu" last="Uzel">Gulbu Uzel</name>
<affiliation><nlm:aff id="aff1">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Zerbe, Christa S" sort="Zerbe, Christa S" uniqKey="Zerbe C" first="Christa S." last="Zerbe">Christa S. Zerbe</name>
<affiliation><nlm:aff id="aff1">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Spalding, Christine" sort="Spalding, Christine" uniqKey="Spalding C" first="Christine" last="Spalding">Christine Spalding</name>
<affiliation><nlm:aff id="aff1">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Pittaluga, Stefania" sort="Pittaluga, Stefania" uniqKey="Pittaluga S" first="Stefania" last="Pittaluga">Stefania Pittaluga</name>
<affiliation><nlm:aff id="aff7">Laboratory of Pathology, NCI, Bethesda, MD;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Raffeld, Mark" sort="Raffeld, Mark" uniqKey="Raffeld M" first="Mark" last="Raffeld">Mark Raffeld</name>
<affiliation><nlm:aff id="aff7">Laboratory of Pathology, NCI, Bethesda, MD;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Kuhns, Douglas B" sort="Kuhns, Douglas B" uniqKey="Kuhns D" first="Douglas B." last="Kuhns">Douglas B. Kuhns</name>
<affiliation><nlm:aff id="aff8">SAIC-Frederick Inc, NCI-Frederick, Frederick, MD;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Ding, Li" sort="Ding, Li" uniqKey="Ding L" first="Li" last="Ding">Li Ding</name>
<affiliation><nlm:aff id="aff1">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Paulson, Michelle L" sort="Paulson, Michelle L" uniqKey="Paulson M" first="Michelle L." last="Paulson">Michelle L. Paulson</name>
<affiliation><nlm:aff id="aff1">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD;</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="aff8">SAIC-Frederick Inc, NCI-Frederick, Frederick, MD;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Marciano, Beatriz E" sort="Marciano, Beatriz E" uniqKey="Marciano B" first="Beatriz E." last="Marciano">Beatriz E. Marciano</name>
<affiliation><nlm:aff id="aff1">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Gea Banacloche, Juan C" sort="Gea Banacloche, Juan C" uniqKey="Gea Banacloche J" first="Juan C." last="Gea-Banacloche">Juan C. Gea-Banacloche</name>
<affiliation><nlm:aff wicri:cut="; and" id="aff9">Experimental Transplantation and Immunology Branch, NCI, Bethesda, MD</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Orange, Jordan S" sort="Orange, Jordan S" uniqKey="Orange J" first="Jordan S." last="Orange">Jordan S. Orange</name>
<affiliation><nlm:aff id="aff10">Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Cuellar Rodriguez, Jennifer" sort="Cuellar Rodriguez, Jennifer" uniqKey="Cuellar Rodriguez J" first="Jennifer" last="Cuellar-Rodriguez">Jennifer Cuellar-Rodriguez</name>
<affiliation><nlm:aff id="aff1">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Hickstein, Dennis D" sort="Hickstein, Dennis D" uniqKey="Hickstein D" first="Dennis D." last="Hickstein">Dennis D. Hickstein</name>
<affiliation><nlm:aff wicri:cut="; and" id="aff9">Experimental Transplantation and Immunology Branch, NCI, Bethesda, MD</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="aff1">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD;</nlm:aff>
</affiliation>
</author>
</analytic>
<series><title level="j">Blood</title>
<idno type="ISSN">0006-4971</idno>
<idno type="eISSN">1528-0020</idno>
<imprint><date when="2011">2011</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
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<front><div type="abstract" xml:lang="en"><p>The syndrome of monocytopenia, B-cell and NK-cell lymphopenia, and mycobacterial, fungal, and viral infections is associated with myelodysplasia, cytogenetic abnormalities, pulmonary alveolar proteinosis, and myeloid leukemias. Both autosomal dominant and sporadic cases occur. We identified 12 distinct mutations in <italic>GATA2</italic>
 affecting 20 patients and relatives with this syndrome, including recurrent missense mutations affecting the zinc finger-2 domain (R398W and T354M), suggesting dominant interference of gene function. Four discrete insertion/deletion mutations leading to frame shifts and premature termination implicate haploinsufficiency as a possible mechanism of action as well. These mutations were found in hematopoietic and somatic tissues, and several were identified in families, indicating germline transmission. Thus, <italic>GATA2</italic>
 joins <italic>RUNX1</italic>
 and <italic>CEBPA</italic>
 not only as a familial leukemia gene but also as a cause of a complex congenital immunodeficiency that evolves over decades and combines predisposition to infection and myeloid malignancy.</p>
</div>
</front>
</TEI>
<pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
  <front><journal-meta><journal-id journal-id-type="nlm-ta">Blood</journal-id>
<journal-id journal-id-type="hwp">bloodjournal</journal-id>
<journal-id journal-id-type="pmc">blood</journal-id>
<journal-id journal-id-type="publisher-id">Blood</journal-id>
<journal-title-group><journal-title>Blood</journal-title>
</journal-title-group>
<issn pub-type="ppub">0006-4971</issn>
<issn pub-type="epub">1528-0020</issn>
<publisher><publisher-name>American Society of Hematology</publisher-name>
<publisher-loc>Washington, DC</publisher-loc>
</publisher>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">21670465</article-id>
<article-id pub-id-type="pmc">3172785</article-id>
<article-id pub-id-type="publisher-id">2011/356352</article-id>
<article-id pub-id-type="doi">10.1182/blood-2011-05-356352</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Plenary Papers</subject>
</subj-group>
<subj-group subj-group-type="heading"><subject>Hematopoiesis and Stem Cells</subject>
</subj-group>
<subj-group subj-group-type="heading"><subject>Immunobiology</subject>
</subj-group>
<subj-group subj-group-type="heading"><subject>Phagocytes, Granulocytes, and Myelopoiesis</subject>
</subj-group>
</article-categories>
<title-group><article-title>Mutations in <italic>GATA2</italic>
 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome</article-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Hsu</surname>
<given-names>Amy P.</given-names>
</name>
<xref ref-type="aff" rid="aff1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Sampaio</surname>
<given-names>Elizabeth P.</given-names>
</name>
<xref ref-type="aff" rid="aff1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Khan</surname>
<given-names>Javed</given-names>
</name>
<xref ref-type="aff" rid="aff2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Calvo</surname>
<given-names>Katherine R.</given-names>
</name>
<xref ref-type="aff" rid="aff3">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Lemieux</surname>
<given-names>Jacob E.</given-names>
</name>
<xref ref-type="aff" rid="aff4">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Patel</surname>
<given-names>Smita Y.</given-names>
</name>
<xref ref-type="aff" rid="aff5">5</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Frucht</surname>
<given-names>David M.</given-names>
</name>
<xref ref-type="aff" rid="aff6">6</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Vinh</surname>
<given-names>Donald C.</given-names>
</name>
<xref ref-type="aff" rid="aff1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Auth</surname>
<given-names>Roger D.</given-names>
</name>
<xref ref-type="aff" rid="aff6">6</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Freeman</surname>
<given-names>Alexandra F.</given-names>
</name>
<xref ref-type="aff" rid="aff1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Olivier</surname>
<given-names>Kenneth N.</given-names>
</name>
<xref ref-type="aff" rid="aff1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Uzel</surname>
<given-names>Gulbu</given-names>
</name>
<xref ref-type="aff" rid="aff1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Zerbe</surname>
<given-names>Christa S.</given-names>
</name>
<xref ref-type="aff" rid="aff1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Spalding</surname>
<given-names>Christine</given-names>
</name>
<xref ref-type="aff" rid="aff1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Pittaluga</surname>
<given-names>Stefania</given-names>
</name>
<xref ref-type="aff" rid="aff7">7</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Raffeld</surname>
<given-names>Mark</given-names>
</name>
<xref ref-type="aff" rid="aff7">7</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Kuhns</surname>
<given-names>Douglas B.</given-names>
</name>
<xref ref-type="aff" rid="aff8">8</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Ding</surname>
<given-names>Li</given-names>
</name>
<xref ref-type="aff" rid="aff1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Paulson</surname>
<given-names>Michelle L.</given-names>
</name>
<xref ref-type="aff" rid="aff1">1</xref>
<xref ref-type="aff" rid="aff8">8</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Marciano</surname>
<given-names>Beatriz E.</given-names>
</name>
<xref ref-type="aff" rid="aff1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Gea-Banacloche</surname>
<given-names>Juan C.</given-names>
</name>
<xref ref-type="aff" rid="aff9">9</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Orange</surname>
<given-names>Jordan S.</given-names>
</name>
<xref ref-type="aff" rid="aff10">10</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Cuellar-Rodriguez</surname>
<given-names>Jennifer</given-names>
</name>
<xref ref-type="aff" rid="aff1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Hickstein</surname>
<given-names>Dennis D.</given-names>
</name>
<xref ref-type="aff" rid="aff9">9</xref>
</contrib>
<contrib contrib-type="author" corresp="yes"><name><surname>Holland</surname>
<given-names>Steven M.</given-names>
</name>
<xref ref-type="aff" rid="aff1">1</xref>
</contrib>
<aff id="aff1"><label>1</label>
Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD;</aff>
<aff id="aff2"><label>2</label>
Oncogenomics Section, Pediatric Oncology Branch, National Cancer Institute (NCI), Bethesda, MD;</aff>
<aff id="aff3"><label>3</label>
Hematology Section, Department of Laboratory Medicine, Warren Grant Magnuson Clinical Cancer Center, Bethesda, MD;</aff>
<aff id="aff4"><label>4</label>
Laboratory of Malaria and Vector Research, NIAID, NIH, Bethesda, MD;</aff>
<aff id="aff5"><label>5</label>
John Radcliffe Hospital, Oxford University, Oxford, United Kingdom;</aff>
<aff id="aff6"><label>6</label>
Center for Drug Evaluation and Research, Federal Drug Administration, Silver Spring, MD;</aff>
<aff id="aff7"><label>7</label>
Laboratory of Pathology, NCI, Bethesda, MD;</aff>
<aff id="aff8"><label>8</label>
SAIC-Frederick Inc, NCI-Frederick, Frederick, MD;</aff>
<aff id="aff9"><label>9</label>
Experimental Transplantation and Immunology Branch, NCI, Bethesda, MD; and</aff>
<aff id="aff10"><label>10</label>
Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA</aff>
</contrib-group>
<pub-date pub-type="ppub"><day>8</day>
<month>9</month>
<year>2011</year>
</pub-date>
<pub-date pub-type="epreprint"><day>13</day>
<month>6</month>
<year>2011</year>
</pub-date>
<pub-date pub-type="pmc-release"><day>8</day>
<month>9</month>
<year>2012</year>
</pub-date>
<pmc-comment> PMC Release delay is 12 months and 0 days and was based on the 
 					. </pmc-comment>
      <volume>118</volume>
<issue>10</issue>
<fpage>2653</fpage>
<lpage>2655</lpage>
<history><date date-type="received"><day>24</day>
<month>5</month>
<year>2011</year>
</date>
<date date-type="accepted"><day>31</day>
<month>5</month>
<year>2011</year>
</date>
</history>
<permissions><copyright-statement>© 2011 by The American Society of Hematology</copyright-statement>
<copyright-year>2011</copyright-year>
</permissions>
<self-uri xlink:title="pdf" xlink:type="simple" xlink:href="zh803611002653.pdf"></self-uri>
<abstract><p>The syndrome of monocytopenia, B-cell and NK-cell lymphopenia, and mycobacterial, fungal, and viral infections is associated with myelodysplasia, cytogenetic abnormalities, pulmonary alveolar proteinosis, and myeloid leukemias. Both autosomal dominant and sporadic cases occur. We identified 12 distinct mutations in <italic>GATA2</italic>
 affecting 20 patients and relatives with this syndrome, including recurrent missense mutations affecting the zinc finger-2 domain (R398W and T354M), suggesting dominant interference of gene function. Four discrete insertion/deletion mutations leading to frame shifts and premature termination implicate haploinsufficiency as a possible mechanism of action as well. These mutations were found in hematopoietic and somatic tissues, and several were identified in families, indicating germline transmission. Thus, <italic>GATA2</italic>
 joins <italic>RUNX1</italic>
 and <italic>CEBPA</italic>
 not only as a familial leukemia gene but also as a cause of a complex congenital immunodeficiency that evolves over decades and combines predisposition to infection and myeloid malignancy.</p>
</abstract>
<funding-group><award-group><funding-source id="CS100">National Institutes of Health</funding-source>
<award-id rid="CS100">HHSN261200800001E</award-id>
</award-group>
</funding-group>
</article-meta>
</front>
</pmc>
</record>

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Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome

Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome

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