Mutations in the human lambda5/14.1 gene result in B cell deficiency and agammaglobulinemia
about
A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humansCD20 deficiency in humans results in impaired T cell-independent antibody responsesThe molecular pathology of primary immunodeficienciesThe pre-B cell receptor; selecting for or against autoreactivityCopy number variation of genes involved in the hepatitis C virus-human interactomeLambda5 is required for rearrangement of the Ig kappa light chain gene in pro-B cell linesAgammaglobulinemia associated with BCR⁻ B cells and enhanced expression of CD19Gene conversion causing human inherited disease: evidence for involvement of non-B-DNA-forming sequences and recombination-promoting motifs in DNA breakage and repair.The role of copy number variation in susceptibility to amyotrophic lateral sclerosis: genome-wide association study and comparison with published loci.Heterogeneity of Human Neutrophil CD177 Expression Results from CD177P1 Pseudogene ConversionVPREB1 deletions occur independent of lambda light chain rearrangement in childhood acute lymphoblastic leukemia.Early B cell defects.Mutations in Igalpha (CD79a) result in a complete block in B-cell development.Igalpha: B all that you can B.Immunogenetics: changing the face of immunodeficiency.Analysis of mice with single and multiple copies of transgenes reveals a novel arrangement for the lambda5-VpreB1 locus control region.The clinical utility of molecular diagnostic testing for primary immune deficiency disorders: a case based review.Novel Igalpha (CD79a) gene mutation in a Turkish patient with B cell-deficient agammaglobulinemia.Current perspectives on common variable immunodeficiency (CVID).The pre-B-cell receptor associated protein VpreB3 is a useful diagnostic marker for identifying c-MYC translocated lymphomasGuidelines for genetic studies in single patients: lessons from primary immunodeficiencies.Mutations in btk in patients with presumed X-linked agammaglobulinemia.Assembly of the kappa preB receptor requires a V kappa-like protein encoded by a germline transcript.Multitasking of Ig-alpha and Ig-beta to regulate B cell antigen receptor function.Clinical and molecular analysis of patients with defects in micro heavy chain gene.Atypical X-linked agammaglobulinaemia caused by a novel BTK mutation in a selective immunoglobulin M deficiency patient.Novel mechanisms control the folding and assembly of lambda5/14.1 and VpreB to produce an intact surrogate light chain.Autoantibodies: Focus on anti-DNA antibodies.Fit for life in the immune system? Surrogate L chain tests H chains that test L chains.Genetic analysis of patients with defects in early B-cell development.Immunoglobulin heavy chain expression shapes the B cell receptor repertoire in human B cell developmentMolecular defects in T- and B-cell primary immunodeficiency diseases.Immunoglobulin beta signaling regulates locus accessibility for ordered immunoglobulin gene rearrangements.Antigen receptor engagement turns off the V(D)J recombination machinery in human tonsil B cells.A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD).The genetic theory of infectious diseases: a brief history and selected illustrations.Defects in Jak-STAT-mediated cytokine signals cause hyper-IgE syndrome: lessons from a primary immunodeficiency.Neutropenia and primary immunodeficiency diseases.Clinical consequences of defects in B-cell development.Ikaros in immune receptor signaling, lymphocyte differentiation, and function.
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P2860
Mutations in the human lambda5/14.1 gene result in B cell deficiency and agammaglobulinemia
description
1998 nî lūn-bûn
@nan
1998 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Mutations in the human lambda5 ...... iciency and agammaglobulinemia
@ast
Mutations in the human lambda5 ...... iciency and agammaglobulinemia
@en
Mutations in the human lambda5 ...... iciency and agammaglobulinemia
@nl
type
label
Mutations in the human lambda5 ...... iciency and agammaglobulinemia
@ast
Mutations in the human lambda5 ...... iciency and agammaglobulinemia
@en
Mutations in the human lambda5 ...... iciency and agammaglobulinemia
@nl
prefLabel
Mutations in the human lambda5 ...... iciency and agammaglobulinemia
@ast
Mutations in the human lambda5 ...... iciency and agammaglobulinemia
@en
Mutations in the human lambda5 ...... iciency and agammaglobulinemia
@nl
P2093
P2860
P3181
P356
P1476
Mutations in the human lambda5 ...... iciency and agammaglobulinemia
@en
P2093
E Coustan-Smith
M D Cooper
M E Conley
Y Minegishi
P2860
P3181
P356
10.1084/JEM.187.1.71
P407
P577
1998-01-05T00:00:00Z