(Q37951367)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22042269%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

title

New frontiers of primary antibody deficiencies (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22042269%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22042269%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Jacques Van Dongen

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22042269%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

1

Mirjam van der Burg

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22042269%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

3

Gertjan J A Driessen

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22042269%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

publication date

1 November 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22042269%20AND%20SRC:MED&resulttype=core&format=json

Cellular and Molecular Life Sciences

15 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22042269%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

volume

69

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22042269%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22042269%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

page(s)

59-73

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22042269%20AND%20SRC:MED&resulttype=core&format=json

Primary immunodeficiencies: 2009 update

15 January 2020

cites work

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21 January 2018

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Single-gene disorders: what role could moonlighting enzymes play?

21 January 2018

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Infections in 252 patients with common variable immunodeficiency

21 January 2018

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Primary antibody deficiencies: recognition, clinical diagnosis and referral of patients

21 January 2018

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Patient-centred screening for primary immunodeficiency: a multi-stage diagnostic protocol designed for non-immunologists.

21 January 2018

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Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia

21 January 2018

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The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases

21 January 2018

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Mutation of unique region of Bruton's tyrosine kinase in immunodeficient XID mice

21 January 2018

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Gross deletions involving IGHM, BTK, or Artemis: a model for genomic lesions mediated by transposable elements.

21 January 2018

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Human Gene Mutation Database (HGMD): 2003 update

21 January 2018

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Mutations in Igalpha (CD79a) result in a complete block in B-cell development

21 January 2018

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Mutations in the human lambda5/14.1 gene result in B cell deficiency and agammaglobulinemia

21 January 2018

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An essential role for BLNK in human B cell development

21 January 2018

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Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM.

21 January 2018

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Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2)

21 January 2018

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Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination

21 January 2018

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Immunoglobulin isotype switching is inhibited and somatic hypermutation perturbed in UNG-deficient mice

21 January 2018

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Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination

21 January 2018

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Switch junction sequences in PMS2-deficient mice reveal a microhomology-mediated mechanism of Ig class switch recombination.

21 January 2018

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Immunoglobulin class switch recombination deficiencies.

21 January 2018

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Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies)

21 January 2018

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Common variable immunodeficiency disorders: division into distinct clinical phenotypes.

21 January 2018

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Common variable immunodeficiency patient classification based on impaired B cell memory differentiation correlates with clinical aspects.

21 January 2018

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The EUROclass trial: defining subgroups in common variable immunodeficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

ICOS deficiency in patients with common variable immunodeficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

Human ICOS deficiency abrogates the germinal center reaction and provides a monogenic model for common variable immunodeficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

Impaired CD4 and CD8 effector function and decreased memory T cell populations in ICOS-deficient patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

Emerging paradigms of T-cell co-stimulation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

ICOS co-stimulatory receptor is essential for T-cell activation and function

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

TACI is mutant in common variable immunodeficiency and IgA deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

Transmembrane activator and calcium-modulating cyclophilin ligand interactor mutations in common variable immunodeficiency: clinical and immunologic outcomes in heterozygotes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

B-cell activating factor receptor deficiency is associated with an adult-onset antibody deficiency syndrome in humans.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

An antibody-deficiency syndrome due to mutations in the CD19 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

CD81 gene defect in humans disrupts CD19 complex formation and leads to antibody deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

CD20 deficiency in humans results in impaired T cell-independent antibody responses

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

The Human Gene Mutation Database: 2008 update

21 January 2018

1 reference

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From hematopoietic progenitors to B cells: mechanisms of lineage restriction and commitment

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

BIOLOGY OF HEMATOPOIETIC STEM CELLS AND PROGENITORS: Implications for Clinical Application

21 January 2018

1 reference

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The Ikaros gene is required for the development of all lymphoid lineages

21 January 2018

1 reference

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Early hematopoietic lineage restrictions directed by Ikaros.

21 January 2018

1 reference

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Regulation of B lymphocyte and macrophage development by graded expression of PU.1.

21 January 2018

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Cloning and functional characterization of early B-cell factor, a regulator of lymphocyte-specific gene expression

21 January 2018

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The helix-loop-helix gene E2A is required for B cell formation

21 January 2018

1 reference

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Helix-loop-helix proteins and lymphocyte development

21 January 2018

1 reference

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Coordinate regulation of B cell differentiation by the transcription factors EBF and E2A.

21 January 2018

1 reference

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Commitment to the B-lymphoid lineage depends on the transcription factor Pax5

21 January 2018

1 reference

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A human non-XLA immunodeficiency disease characterized by blockage of B cell development at an early proB cell stage

21 January 2018

1 reference

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A syndrome involving intrauterine growth retardation, microcephaly, cerebellar hypoplasia, B lymphocyte deficiency, and progressive pancytopenia

21 January 2018

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The mechanisms of immune diversification and their disorders

21 January 2018

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DNA-PKcs deficiency in human: long predicted, finally found.

21 January 2018

1 reference

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Non-homologous end-joining, a sticky affair

21 January 2018

1 reference

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An immunodeficiency disease with RAG mutations and granulomas

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

The pre-BCR checkpoint as a cell-autonomous proliferation switch

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

BLNK: a central linker protein in B cell activation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

Pre-BCR signals and the control of Ig gene rearrangements

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

Down-regulation of RAG1 and RAG2 gene expression in PreB cells after functional immunoglobulin heavy chain rearrangement

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

Partial block in B lymphocyte development at the transition into the pre-B cell receptor stage in Vpre-B1-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

Loss of precursor B cell expansion but not allelic exclusion in VpreB1/VpreB2 double-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

Predominant autoantibody production by early human B cell precursors

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

Cellular and genetic mechanisms of self tolerance and autoimmunity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

Receptor editing is the main mechanism of B cell tolerance toward membrane antigens

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

Bruton's tyrosine kinase is essential for human B cell tolerance

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

Autoimmunity in common variable immunodeficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

Design and standardization of PCR primers and protocols for detection of clonal immunoglobulin and T-cell receptor gene recombinations in suspect lymphoproliferations: report of the BIOMED-2 Concerted Action BMH4-CT98-3936.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

Measurement and clinical monitoring of human lymphocyte clonality by massively parallel VDJ pyrosequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

Individual variation in the germline Ig gene repertoire inferred from variable region gene rearrangements.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

BAFF AND APRIL: a tutorial on B cell survival

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

The role of APRIL and BAFF in lymphocyte activation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

The CD19/CD21 complex functions to prolong B cell antigen receptor signaling from lipid rafts

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

CD19: lowering the threshold for antigen receptor stimulation of B lymphocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

Dual antigen recognition by B cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

B cell receptor-mediated calcium signaling is impaired in B lymphocytes of type Ia patients with common variable immunodeficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

Circulating CD21low B cells in common variable immunodeficiency resemble tissue homing, innate-like B cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

Complement receptor 2/CD21- human naive B cells contain mostly autoreactive unresponsive clones

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

Regulation of B lymphocyte responses to foreign and self-antigens by the CD19/CD21 complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

Targeting of somatic hypermutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

Molecular mechanism of class switch recombination: linkage with somatic hypermutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

A primary immunodeficiency characterized by defective immunoglobulin class switch recombination and impaired DNA repair

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

Somatic hypermutation in the absence of DNA-dependent protein kinase catalytic subunit (DNA-PK(cs)) or recombination-activating gene (RAG)1 activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

Mismatch repair co-opted by hypermutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

The transmembrane activator TACI triggers immunoglobulin class switching by activating B cells through the adaptor MyD88

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

Hyper-IgM syndrome type 4 with a B lymphocyte-intrinsic selective deficiency in Ig class-switch recombination

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

Deficiency of somatic hypermutation of the antibody light chain is associated with increased frequency of severe respiratory tract infection in common variable immunodeficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

Deficiency of somatic hypermutation of immunoglobulin G transcripts is a better predictor of severe respiratory tract infections than lack of memory B cells in common variable immunodeficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

Replication history of B lymphocytes reveals homeostatic proliferation and extensive antigen-induced B cell expansion

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

Analysis of somatic hypermutation in X-linked hyper-IgM syndrome shows specific deficiencies in mutational targeting.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

Role for Msh5 in the regulation of Ig class switch recombination

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

The regulation of IgA class switching.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

Human marginal zone B cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

T cell independent antigens

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

Signaling in B cells via Toll-like receptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

Human blood IgM "memory" B cells are circulating splenic marginal zone B cells harboring a prediversified immunoglobulin repertoire

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

Molecular footprints of a germinal center derivation of human IgM+(IgD+)CD27+ B cells and the dynamics of memory B cell generation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

B cell-specific lentiviral gene therapy leads to sustained B-cell functional recovery in a murine model of X-linked agammaglobulinemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

LMO2-associated clonal T cell proliferation in two patients after gene therapy for SCID-X1

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

Efficacy of gene therapy for X-linked severe combined immunodeficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

Requirement of transcription factor PU.1 in the development of multiple hematopoietic lineages.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

Failure of B-cell differentiation in mice lacking the transcription factor EBF.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

Perinatal lethality and blocked B-cell development in mice lacking the tyrosine kinase Syk

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

Cutting edge: essential role of phospholipase C-gamma 2 in B cell development and function

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

Phosphoinositide 3-kinase knockout mice: role of p85alpha in B cell development and proliferation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

Impaired B cell development and proliferation in absence of phosphoinositide 3-kinase p85alpha.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

Mutations in the mu heavy-chain gene in patients with agammaglobulinemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

Complete block of early B cell differentiation and altered patterning of the posterior midbrain in mice lacking Pax5/BSAP

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0836-X

Novel mutations in a Japanese patient with CD19 deficiency

21 January 2018

1 reference

12 December 2020

Pre-B cell receptor signaling mediates selective response to IL-7 at the pro-B to pre-B cell transition via an ERK/MAP kinase-dependent pathway

1 reference

12 December 2020

Characterization of a human B lymphocyte-specific antigen.

1 reference

12 December 2020

Haploinsufficiency of the IKZF1 (IKAROS) tumor suppressor gene cooperates with BCR-ABL in a transgenic model of acute lymphoblastic leukemia

1 reference

12 December 2020

Artemis splice defects cause atypical SCID and can be restored in vitro by an antisense oligonucleotide.

1 reference

12 December 2020

B lymphocyte precursors in human bone marrow: an analysis of normal individuals and patients with antibody-deficiency states

1 reference

12 December 2020

Mouse inducible costimulatory molecule (ICOS) expression is enhanced by CD28 costimulation and regulates differentiation of CD4+ T cells

1 reference

12 December 2020

Molecular diagnostics of primary immunodeficiencies: benefits and future challenges

1 reference

12 December 2020

1 reference

12 December 2020

Severe deficiency of switched memory B cells (CD27(+)IgM(-)IgD(-)) in subgroups of patients with common variable immunodeficiency: a new approach to classify a heterogeneous disease

1 reference

12 December 2020

Primary immunodeficiencies

1 reference

12 December 2020

Cutting edge: a hypomorphic mutation in Igbeta (CD79b) in a patient with immunodeficiency and a leaky defect in B cell development

1 reference

12 December 2020

Educational paper. The expanding clinical and immunological spectrum of severe combined immunodeficiency

1 reference

12 December 2020

1 reference

12 December 2020

Adult agammaglobulinemia

1 reference

12 December 2020

Ig gene rearrangement steps are initiated in early human precursor B cell subsets and correlate with specific transcription factor expression

1 reference

12 December 2020

IgM heavy chain complementarity-determining region 3 diversity is constrained by genetic and somatic mechanisms until two months after birth.

1 reference

12 December 2020

Correction of B-cell development in Btk-deficient mice using lentiviral vectors with codon-optimized human BTK.

1 reference

12 December 2020

B-cell maturation and antibody responses in individuals carrying a mutated CD19 allele.

1 reference

12 December 2020

Colocalization of X-linked agammaglobulinemia and X-linked immunodeficiency genes

1 reference

12 December 2020

Genetic CD21 deficiency is associated with hypogammaglobulinemia

1 reference

12 December 2020

Dissection of B-cell development to unravel defects in patients with a primary antibody deficiency

1 reference

12 December 2020

The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome

1 reference

12 December 2020

Multiple defects in the immune system of Lyn-deficient mice, culminating in autoimmune disease

1 reference

12 December 2020

CD19 is essential for B cell activation by promoting B cell receptor–antigen microcluster formation in response to membrane-bound ligand

1 reference

12 December 2020

Classification of patients with common variable immunodeficiency by B cell secretion of IgM and IgG in response to anti-IgM and interleukin-2

1 reference

12 December 2020

10.1007/S00018-011-0836-X

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22042269%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

1 reference