Targeted pharmacologic immunomodulation for inborn errors of immunity.
Identifieur interne : 000033 ( Main/Exploration ); précédent : 000032; suivant : 000034Targeted pharmacologic immunomodulation for inborn errors of immunity.
Auteurs : Keith A. Sacco [États-Unis] ; Michael Stack [États-Unis] ; Luigi D. Notarangelo [États-Unis]Source :
- British journal of clinical pharmacology [ 1365-2125 ] ; 2020.
Abstract
Inborn errors of immunity consist of over 400 known single gene disorders that may manifest with infection susceptibility, autoimmunity, autoinflammation, hypersensitivity and cancer predisposition. Most patients are treated symptomatically with immunoglobulin replacement, prophylactic antimicrobials or broad immunosuppression pertaining to their disease phenotype. Other than haematopoietic stem cell transplantation, the aforementioned treatments do little to alter disease morbidity or mortality. Further, many patients may not be transplant candidates. In this review, we describe monogenic disorders affecting leucocyte migration, disorders of immune synapse formation and dysregulation of immune cell signal transduction. We highlight the use of off-label small molecules and biologics mechanistically targeted to altered disease pathophysiology of such diseases.
DOI: 10.1111/bcp.14509
PubMed: 32738057
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Targeted pharmacologic immunomodulation for inborn errors of immunity.</title><author><name sortKey="Sacco, Keith A" sort="Sacco, Keith A" uniqKey="Sacco K" first="Keith A" last="Sacco">Keith A. Sacco</name><affiliation wicri:level="2"><nlm:affiliation>Laboratory of Clinical Immunology and Microbiology, National Institute for Allergy and Infectious Diseases, NIH, Maryland, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratory of Clinical Immunology and Microbiology, National Institute for Allergy and Infectious Diseases, NIH, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Stack, Michael" sort="Stack, Michael" uniqKey="Stack M" first="Michael" last="Stack">Michael Stack</name><affiliation wicri:level="2"><nlm:affiliation>Laboratory of Clinical Immunology and Microbiology, National Institute for Allergy and Infectious Diseases, NIH, Maryland, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratory of Clinical Immunology and Microbiology, National Institute for Allergy and Infectious Diseases, NIH, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Notarangelo, Luigi D" sort="Notarangelo, Luigi D" uniqKey="Notarangelo L" first="Luigi D" last="Notarangelo">Luigi D. Notarangelo</name><affiliation wicri:level="2"><nlm:affiliation>Laboratory of Clinical Immunology and Microbiology, National Institute for Allergy and Infectious Diseases, NIH, Maryland, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratory of Clinical Immunology and Microbiology, National Institute for Allergy and Infectious Diseases, NIH, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2020">2020</date><idno type="RBID">pubmed:32738057</idno><idno type="pmid">32738057</idno><idno type="doi">10.1111/bcp.14509</idno><idno type="wicri:Area/Main/Corpus">000035</idno><idno type="wicri:explorRef" wicri:stream="Main" wicri:step="Corpus" wicri:corpus="PubMed">000035</idno><idno type="wicri:Area/Main/Curation">000035</idno><idno type="wicri:explorRef" wicri:stream="Main" wicri:step="Curation">000035</idno><idno type="wicri:Area/Main/Exploration">000035</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Targeted pharmacologic immunomodulation for inborn errors of immunity.</title><author><name sortKey="Sacco, Keith A" sort="Sacco, Keith A" uniqKey="Sacco K" first="Keith A" last="Sacco">Keith A. Sacco</name><affiliation wicri:level="2"><nlm:affiliation>Laboratory of Clinical Immunology and Microbiology, National Institute for Allergy and Infectious Diseases, NIH, Maryland, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratory of Clinical Immunology and Microbiology, National Institute for Allergy and Infectious Diseases, NIH, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Stack, Michael" sort="Stack, Michael" uniqKey="Stack M" first="Michael" last="Stack">Michael Stack</name><affiliation wicri:level="2"><nlm:affiliation>Laboratory of Clinical Immunology and Microbiology, National Institute for Allergy and Infectious Diseases, NIH, Maryland, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratory of Clinical Immunology and Microbiology, National Institute for Allergy and Infectious Diseases, NIH, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Notarangelo, Luigi D" sort="Notarangelo, Luigi D" uniqKey="Notarangelo L" first="Luigi D" last="Notarangelo">Luigi D. Notarangelo</name><affiliation wicri:level="2"><nlm:affiliation>Laboratory of Clinical Immunology and Microbiology, National Institute for Allergy and Infectious Diseases, NIH, Maryland, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratory of Clinical Immunology and Microbiology, National Institute for Allergy and Infectious Diseases, NIH, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author></analytic><series><title level="j">British journal of clinical pharmacology</title><idno type="eISSN">1365-2125</idno><imprint><date when="2020" type="published">2020</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Inborn errors of immunity consist of over 400 known single gene disorders that may manifest with infection susceptibility, autoimmunity, autoinflammation, hypersensitivity and cancer predisposition. Most patients are treated symptomatically with immunoglobulin replacement, prophylactic antimicrobials or broad immunosuppression pertaining to their disease phenotype. Other than haematopoietic stem cell transplantation, the aforementioned treatments do little to alter disease morbidity or mortality. Further, many patients may not be transplant candidates. In this review, we describe monogenic disorders affecting leucocyte migration, disorders of immune synapse formation and dysregulation of immune cell signal transduction. We highlight the use of off-label small molecules and biologics mechanistically targeted to altered disease pathophysiology of such diseases.</div></front></TEI><pubmed><MedlineCitation Status="Publisher" Owner="NLM"><PMID Version="1">32738057</PMID><DateRevised><Year>2020</Year><Month>08</Month><Day>21</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1365-2125</ISSN><JournalIssue CitedMedium="Internet"><PubDate><Year>2020</Year><Month>Aug</Month><Day>01</Day></PubDate></JournalIssue><Title>British journal of clinical pharmacology</Title><ISOAbbreviation>Br J Clin Pharmacol</ISOAbbreviation></Journal><ArticleTitle>Targeted pharmacologic immunomodulation for inborn errors of immunity.</ArticleTitle><ELocationID EIdType="doi" ValidYN="Y">10.1111/bcp.14509</ELocationID><Abstract><AbstractText>Inborn errors of immunity consist of over 400 known single gene disorders that may manifest with infection susceptibility, autoimmunity, autoinflammation, hypersensitivity and cancer predisposition. Most patients are treated symptomatically with immunoglobulin replacement, prophylactic antimicrobials or broad immunosuppression pertaining to their disease phenotype. Other than haematopoietic stem cell transplantation, the aforementioned treatments do little to alter disease morbidity or mortality. Further, many patients may not be transplant candidates. In this review, we describe monogenic disorders affecting leucocyte migration, disorders of immune synapse formation and dysregulation of immune cell signal transduction. We highlight the use of off-label small molecules and biologics mechanistically targeted to altered disease pathophysiology of such diseases.</AbstractText><CopyrightInformation>Published 2020. This article is a U.S. Government work and is in the public domain in the USA.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Sacco</LastName><ForeName>Keith A</ForeName><Initials>KA</Initials><Identifier Source="ORCID">https://orcid.org/0000-0001-8189-7769</Identifier><AffiliationInfo><Affiliation>Laboratory of Clinical Immunology and Microbiology, National Institute for Allergy and Infectious Diseases, NIH, Maryland, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Stack</LastName><ForeName>Michael</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Laboratory of Clinical Immunology and Microbiology, National Institute for Allergy and Infectious Diseases, NIH, Maryland, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Notarangelo</LastName><ForeName>Luigi D</ForeName><Initials>LD</Initials><AffiliationInfo><Affiliation>Laboratory of Clinical Immunology and Microbiology, National Institute for Allergy and Infectious Diseases, NIH, Maryland, USA.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><Agency>Division of Intramural Research, National Institute of Allergy and Infectious Diseases</Agency><Country></Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D016454">Review</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2020</Year><Month>08</Month><Day>01</Day></ArticleDate></Article><MedlineJournalInfo><Country>England</Country><MedlineTA>Br J Clin Pharmacol</MedlineTA><NlmUniqueID>7503323</NlmUniqueID><ISSNLinking>0306-5251</ISSNLinking></MedlineJournalInfo><CitationSubset>IM</CitationSubset><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">biologics</Keyword><Keyword MajorTopicYN="N">immunodeficiency</Keyword><Keyword MajorTopicYN="N">immunomodulation</Keyword><Keyword MajorTopicYN="N">inborn errors of immunity</Keyword><Keyword MajorTopicYN="N">jakinib</Keyword><Keyword MajorTopicYN="N">personalized medicine</Keyword><Keyword MajorTopicYN="N">rapamycin</Keyword><Keyword MajorTopicYN="N">targeted treatment</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2020</Year><Month>04</Month><Day>23</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2020</Year><Month>07</Month><Day>21</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2020</Year><Month>07</Month><Day>24</Day></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2020</Year><Month>8</Month><Day>2</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2020</Year><Month>8</Month><Day>2</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2020</Year><Month>8</Month><Day>2</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>aheadofprint</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">32738057</ArticleId><ArticleId IdType="doi">10.1111/bcp.14509</ArticleId></ArticleIdList><ReferenceList><Title>REFERENCES</Title><Reference><Citation>Rothenberg EV, Kueh HY, Yui MA, Zhang JA. 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