Conley, MaryDobbs, KerryFarmer, DanaParis, KennethGrigoriadou, SofiaCoustan-Smith, ElaineHoward, VanessaCampana, Dario2021-10-192021-10-192009Conley, ME. vd.(2009). "Primary B Cell Immunodeficiencies: Comparisons and Contrasts". Annual Review of Immunology, 27, 199-227.0732-0582https://doi.org/10.1146/annurev.immunol.021908.132649https://www.annualreviews.org/doi/10.1146/annurev.immunol.021908.132649http://hdl.handle.net/11452/22408Sophisticated 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.eninfo:eu-repo/semantics/closedAccessX-linked agammaglobulinemiaHyper-IgM syndromeCommon variable immunodeficiencyBtkTACICommon variable immunodeficiencyX-linked agammaglobulinemiaBrutons tyrosine kinaseHyper-igm syndromeClass-switch recombinationInduced cytidine deaminaseMajor histocompatibility complexAntibody-deficiency syndromeAutosomal recessive formDisease gene sh2d1aAdaptor proteins, signal transducingAnimalsAntigens, CD19Antigens, CD79Antigens, differentiation, T-LymphocyteB-LymphocytesHumansImmunologic deficiency syndromesMutationPrecursor cells, B-LymphoidProtein-tyrosine kinasesTransmembrane activator and CAML interactor proteinReview0002680716000082-s2.0-676507443391992272719302039ImmunologyBruton Tyrosine Kinase; Bruton Type Agammaglobulinemia; IbrutinibAmino acidB lymphocyte receptorBeta 2 microglobulinBruton tyrosine kinaseCD19 antigenCD27 antigenCD40 antigenCD40 ligandCD79b antigenImmunoglobulinImmunoglobulin AImmunoglobulin EImmunoglobulin GImmunoglobulin G1Immunoglobulin MMacroglobulinScaffold proteinTransmembrane activator and CAML interactorAgammaglobulinemiaAmino acid substitutionAutoimmunityAutosomal recessive disorderB lymphocyteBone marrow cellCell maturationCellular immunityCommon variable immunodeficiencyDysgammaglobulinemiaEmpyemaEnvironmental factorGene mutationGenetic associationGenetic heterogeneityGenetic variabilityGenotype phenotype correlationHumanHyper IgM syndromeImmune deficiencyImmunoglobulin A deficiencylymphocyte activationMeningitisNeutropeniaNonhumanOpportunistic infectionPatient carePneumoniaPre B lymphocytePriority journalReviewSepsisSymptomatologyX linked agammaglobulinemia