Primary B cell immunodeficiencies: comparisons and contrasts

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dc.contributor.authorConley, Mary
dc.contributor.authorDobbs, Kerry
dc.contributor.authorFarmer, Dana
dc.contributor.authorParis, Kenneth
dc.contributor.authorGrigoriadou, Sofia
dc.contributor.authorCoustan-Smith, Elaine
dc.contributor.authorHoward, Vanessa
dc.contributor.authorCampana, Dario
dc.contributor.buuauthorKılı., Sara Şebnem
dc.contributor.departmentUludağ Üniversitesi/ Tıp Fakültesi/ Pediatri Anabilim Dalı.tr_TR
dc.contributor.orcid0000-0001-8571-2581tr_TR
dc.contributor.scopusid34975059200tr_TR
dc.date.accessioned2021-10-19T09:42:42Z
dc.date.available2021-10-19T09:42:42Z
dc.date.issued2009
dc.description.abstractSophisticated genetic tools have made possible the identification of the genes responsible for most well-described immunodeficiencies in the past 15 years. Mutations in Btk, components of the pre-B cell and B cell receptor (lambda 5, Ig alpha, Ig beta), or the scaffold protein BLNK account for approximately 90% of patients with defects in early B cell development. Hyper-IgM syndromes result from mutations in CD40 ligand, CD40, AID, or UNG in 70-80% of affected patients. Rare defects in ICOS or CD 19 can result in a clinical picture that is consistent with common variable immunodeficiency, and as many as 10% of patients with this disorder have hetetozygous amino acid substitutions in TACI. For all these disorders, there is considerable clinical heterogeneity in patients with the same mutation. Identifying the genetic and environmental factors that influence the clinical phenotype may enhance patient care and our understanding of normal B cell development.en_US
dc.description.sponsorshipUnited States Department of Health & Human Services National Institutes of Health (NIH) - USA (AI25129)en_US
dc.description.sponsorshipUnited States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH National Cancer Institute (NCI) ( P30 CA21765)en_US
dc.description.sponsorshipFederal Express Chair of Excellenceen_US
dc.description.sponsorshipUnited States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH National Cancer Institute (NCI) ( P30CA021765)en_US
dc.description.sponsorshipUnited States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH National Institute of Allergy & Infectious Diseases (NIAID) ( R56AI025129)en_US
dc.description.sponsorshipUnited States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH National Institute of Allergy & Infectious Diseases (NIAID) ( R01AI025129)en_US
dc.description.sponsorshipUnited States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH National Institute of Allergy & Infectious Diseases (NIAID) ( R37AI025129)en_US
dc.identifier.citationConley, ME. vd.(2009). "Primary B Cell Immunodeficiencies: Comparisons and Contrasts". Annual Review of Immunology, 27, 199-227.en_US
dc.identifier.endpage227tr_TR
dc.identifier.issn0732-0582
dc.identifier.pubmed19302039tr_TR
dc.identifier.scopus2-s2.0-67650744339tr_TR
dc.identifier.startpage199tr_TR
dc.identifier.urihttps://doi.org/10.1146/annurev.immunol.021908.132649
dc.identifier.urihttps://www.annualreviews.org/doi/10.1146/annurev.immunol.021908.132649
dc.identifier.urihttp://hdl.handle.net/11452/22408
dc.identifier.volume27tr_TR
dc.identifier.wos000268071600008tr_TR
dc.indexed.pubmedPubmeden_US
dc.indexed.scopusScopusen_US
dc.indexed.wosBKCISen_US
dc.indexed.wosSCIEen_US
dc.language.isoenen_US
dc.publisherAnnual Reviewsen_US
dc.relation.collaborationYurt dışıtr_TR
dc.relation.journalAnnual Review of Immunologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergitr_TR
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectX-linked agammaglobulinemiaen_US
dc.subjectHyper-IgM syndromeen_US
dc.subjectCommon variable immunodeficiencyen_US
dc.subjectBtken_US
dc.subjectTACIen_US
dc.subjectCommon variable immunodeficiencyen_US
dc.subjectX-linked agammaglobulinemiaen_US
dc.subjectBrutons tyrosine kinaseen_US
dc.subjectHyper-igm syndromeen_US
dc.subjectClass-switch recombinationen_US
dc.subjectInduced cytidine deaminaseen_US
dc.subjectMajor histocompatibility complexen_US
dc.subjectAntibody-deficiency syndromeen_US
dc.subjectAutosomal recessive formen_US
dc.subjectDisease gene sh2d1aen_US
dc.subject.emtreeAmino aciden_US
dc.subject.emtreeB lymphocyte receptoren_US
dc.subject.emtreeBeta 2 microglobulinen_US
dc.subject.emtreeBruton tyrosine kinaseen_US
dc.subject.emtreeCD19 antigenen_US
dc.subject.emtreeCD27 antigenen_US
dc.subject.emtreeCD40 antigenen_US
dc.subject.emtreeCD40 liganden_US
dc.subject.emtreeCD79b antigenen_US
dc.subject.emtreeImmunoglobulinen_US
dc.subject.emtreeImmunoglobulin Aen_US
dc.subject.emtreeImmunoglobulin Een_US
dc.subject.emtreeImmunoglobulin Gen_US
dc.subject.emtreeImmunoglobulin G1en_US
dc.subject.emtreeImmunoglobulin Men_US
dc.subject.emtreeMacroglobulinen_US
dc.subject.emtreeScaffold proteinen_US
dc.subject.emtreeTransmembrane activator and CAML interactoren_US
dc.subject.emtreeAgammaglobulinemiaen_US
dc.subject.emtreeAmino acid substitutionen_US
dc.subject.emtreeAutoimmunityen_US
dc.subject.emtreeAutosomal recessive disorderen_US
dc.subject.emtreeB lymphocyteen_US
dc.subject.emtreeBone marrow cellen_US
dc.subject.emtreeCell maturationen_US
dc.subject.emtreeCellular immunityen_US
dc.subject.emtreeCommon variable immunodeficiencyen_US
dc.subject.emtreeDysgammaglobulinemiaen_US
dc.subject.emtreeEmpyemaen_US
dc.subject.emtreeEnvironmental factoren_US
dc.subject.emtreeGene mutationen_US
dc.subject.emtreeGenetic associationen_US
dc.subject.emtreeGenetic heterogeneityen_US
dc.subject.emtreeGenetic variabilityen_US
dc.subject.emtreeGenotype phenotype correlationen_US
dc.subject.emtreeHumanen_US
dc.subject.emtreeHyper IgM syndromeen_US
dc.subject.emtreeImmune deficiencyen_US
dc.subject.emtreeImmunoglobulin A deficiencyen_US
dc.subject.emtreelymphocyte activationen_US
dc.subject.emtreeMeningitisen_US
dc.subject.emtreeNeutropeniaen_US
dc.subject.emtreeNonhumanen_US
dc.subject.emtreeOpportunistic infectionen_US
dc.subject.emtreePatient careen_US
dc.subject.emtreePneumoniaen_US
dc.subject.emtreePre B lymphocyteen_US
dc.subject.emtreePriority journalen_US
dc.subject.emtreeReviewen_US
dc.subject.emtreeSepsisen_US
dc.subject.emtreeSymptomatologyen_US
dc.subject.emtreeX linked agammaglobulinemiaen_US
dc.subject.meshAdaptor proteins, signal transducingen_US
dc.subject.meshAnimalsen_US
dc.subject.meshAntigens, CD19en_US
dc.subject.meshAntigens, CD79en_US
dc.subject.meshAntigens, differentiation, T-Lymphocyteen_US
dc.subject.meshB-Lymphocytesen_US
dc.subject.meshHumansen_US
dc.subject.meshImmunologic deficiency syndromesen_US
dc.subject.meshMutationen_US
dc.subject.meshPrecursor cells, B-Lymphoiden_US
dc.subject.meshProtein-tyrosine kinasesen_US
dc.subject.meshTransmembrane activator and CAML interactor proteinen_US
dc.subject.scopusBruton Tyrosine Kinase; Bruton Type Agammaglobulinemia; Ibrutiniben_US
dc.subject.wosImmunologyen_US
dc.titlePrimary B cell immunodeficiencies: comparisons and contrastsen_US
dc.typeReview
dc.typeBook Chapter
dc.wos.quartileQ1en_US

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