Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM.
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The CD40, CTLA-4, thyroglobulin, TSH receptor, and PTPN22 gene quintet and its contribution to thyroid autoimmunity: back to the futureThe molecular pathology of primary immunodeficienciesX-linked hyper IgM (HIGM1) in an African kindred: the first report from South AfricaDistribution of SR protein exonic splicing enhancer motifs in human protein-coding genes.Primary immunodeficiencies associated with eosinophiliaHyper immunoglobulin M syndrome due to CD40 deficiency: clinical, molecular, and immunological featuresUpdate on the hyper immunoglobulin M syndromesESEfinder: A web resource to identify exonic splicing enhancersAutoimmunity in primary T-cell immunodeficiencies.AID in aging and autoimmune diseases.Toll-like receptor 9, transmembrane activator and calcium-modulating cyclophilin ligand interactor, and CD40 synergize in causing B-cell activation.Three novel mutations reflect the variety of defects causing phenotypically diverse X-linked hyper-IgM syndrome.In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects.An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers.Common variable immunodeficiency: etiological and treatment issues.B cell abnormalities in systemic lupus erythematosusCD40 signaling to the rescue: A CD8 exhaustion perspective in chronic infectious diseasesPotential roles of activation-induced cytidine deaminase in promotion or prevention of autoimmunity in humansGenomic features defining exonic variants that modulate splicing.A custom 148 gene-based resequencing chip and the SNP explorer software: new tools to study antibody deficiency.Gastrointestinal and hepatic manifestations of primary immune deficiency diseases.Innate signaling networks in mucosal IgA class switchingViral double-stranded RNA triggers Ig class switching by activating upper respiratory mucosa B cells through an innate TLR3 pathway involving BAFF.Molecular aspects of primary immunodeficiencies: lessons from cytokine and other signaling pathways.The regulation of IgA class switching.Hyper-IgM syndrome type 4 with a B lymphocyte-intrinsic selective deficiency in Ig class-switch recombination.Severity of symptom flare after moderate exercise is linked to cytokine activity in chronic fatigue syndromeNovel sequencing-based strategies for high-throughput discovery of genetic mutations underlying inherited antibody deficiency disordersRegulation of mucosal IgA responses: lessons from primary immunodeficiencies.Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia.c-Rel plays a key role in deficient activation of B cells from a non-X-linked hyper-IgM patient.The hyper IgM syndrome--an evolving story.Human CD14hi monocytes and myeloid dendritic cells provide a cell contact-dependent costimulatory signal for early CD40 ligand expressionHyper-immunoglobulin M syndromes caused by intrinsic B-lymphocyte defects.Immunoglobulin replacement therapy in primary antibody deficiency diseases--maximizing success.A primary immunodeficiency characterized by defective immunoglobulin class switch recombination and impaired DNA repair.CD40 ligand and MHC class II expression are essential for human peripheral B cell tolerance.Molecular defects in T- and B-cell primary immunodeficiency diseases.A functional TNFRSF5 gene variant is associated with risk of lymphomaActivated mast cells promote differentiation of B cells into effector cells.
P2860
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P2860
Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM.
description
2001 nî lūn-bûn
@nan
2001 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Mutations of CD40 gene cause a ...... munodeficiency with hyper IgM.
@ast
Mutations of CD40 gene cause a ...... munodeficiency with hyper IgM.
@en
type
label
Mutations of CD40 gene cause a ...... munodeficiency with hyper IgM.
@ast
Mutations of CD40 gene cause a ...... munodeficiency with hyper IgM.
@en
prefLabel
Mutations of CD40 gene cause a ...... munodeficiency with hyper IgM.
@ast
Mutations of CD40 gene cause a ...... munodeficiency with hyper IgM.
@en
P2093
P2860
P356
P1476
Mutations of CD40 gene cause a ...... munodeficiency with hyper IgM.
@en
P2093
Al-Ghonaium A
Avanzini MA
Badolato R
Insalaco A
P2860
P304
12614-12619
P356
10.1073/PNAS.221456898
P407
P577
2001-10-01T00:00:00Z