Unravelling the association of partial T-cell immunodeficiency and immune dysregulation (Q37190443)

18 August 2017

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title

Unravelling the association of partial T-cell immunodeficiency and immune dysregulation (English)

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18 August 2017

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18 August 2017

Adrian Liston

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18 August 2017

Owen M Siggs

series ordinal

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18 August 2017

publication date

1 July 2008

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Nature Reviews Immunology

18 August 2017

published in

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18 August 2017

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18 August 2017

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18 August 2017

page(s)

545-558

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A severe form of human combined immunodeficiency due to mutations in DNA ligase IV.

18 August 2017

cites work

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Targeted disruption of the Artemis murine counterpart results in SCID and defective V(D)J recombination that is partially corrected with bone marrow transplantation.

21 January 2018

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Loss of Tolerance and Autoimmunity Affecting Multiple Organs inSTAT5A/5B-Deficient Mice

21 January 2018

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Th2 lymphoproliferative disorder of LatY136F mutant mice unfolds independently of TCR-MHC engagement and is insensitive to the action of Foxp3+ regulatory T cells

21 January 2018

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Suppressor effector function of CD4+CD25+ immunoregulatory T cells is antigen nonspecific

21 January 2018

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21 January 2018

Reviewing Omenn syndrome

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AIRE deficiency in thymus of 2 patients with Omenn syndrome

21 January 2018

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A mutation in a chromosome condensin II subunit, kleisin beta, specifically disrupts T cell development

21 January 2018

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Ablation of ribosomal protein L22 selectively impairs alphabeta T cell development by activation of a p53-dependent checkpoint

31 March 2020

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Mechanisms of haploinsufficiency revealed by genome-wide profiling in yeast

31 March 2020

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Functional profiling of the Saccharomyces cerevisiae genome

31 March 2020

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Naturally occurring primary deficiencies of the immune system

31 March 2020

1 reference

Partial V(D)J recombination activity leads to Omenn syndrome

31 March 2020

1 reference

Omenn syndrome due to ARTEMIS mutations

31 March 2020

1 reference

Omenn's syndrome occurring in patients without mutations in recombination activating genes

31 March 2020

1 reference

Mutations in the RNA component of RNase mitochondrial RNA processing might cause Omenn syndrome

31 March 2020

1 reference

Omenn syndrome in an infant with IL7RA gene mutation

31 March 2020

1 reference

Skin infiltration of CD56(bright) CD16(-) natural killer cells in a case of X-SCID with Omenn syndrome-like manifestations

31 March 2020

1 reference

N-terminal RAG1 frameshift mutations in Omenn's syndrome: internal methionine usage leads to partial V(D)J recombination activity and reveals a fundamental role in vivo for the N-terminal domains.

31 March 2020

1 reference

Restricted heterogeneity of T lymphocytes in combined immunodeficiency with hypereosinophilia (Omenn's syndrome).

31 March 2020

1 reference

A variant of SCID with specific immune responses and predominance of gamma delta T cells

31 March 2020

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A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection

31 March 2020

1 reference

A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation.

31 March 2020

1 reference

DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency

31 March 2020

1 reference

Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency

31 March 2020

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The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1.

31 March 2020

1 reference

Interleukin-2 receptor gamma chain: a functional component of the interleukin-7 receptor

31 March 2020

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B-cell-negative severe combined immunodeficiency associated with a common gamma chain mutation

31 March 2020

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Growth hormone insensitivity associated with a STAT5b mutation

31 March 2020

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Susceptibility to infections and in vitro immune functions in cartilage-hair hypoplasia

31 March 2020

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Rapidly fatal familial histiocytosis associated with eosinophilia and primary immunological deficiency

31 March 2020

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Short-limbed dwarfism with bowing, combined immune deficiency, and late onset aplastic anaemia caused by novel mutations in the RMPR gene

31 March 2020

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Adult presentation of adenosine deaminase deficiency

31 March 2020

1 reference

Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency

31 March 2020

1 reference

Specific immunoglobulin E responses in ZAP-70-deficient patients are mediated by Syk-dependent T-cell receptor signalling

31 March 2020

1 reference

A multiinstitutional survey of the Wiskott-Aldrich syndrome.

31 March 2020

1 reference

Autoimmunity in Wiskott-Aldrich syndrome

31 March 2020

1 reference

Isolation of a novel gene mutated in Wiskott-Aldrich syndrome

31 March 2020

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Clinical course of patients with WASP gene mutations

31 March 2020

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X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene

31 March 2020

1 reference

Localization of a type 1 diabetes locus in the IL2RA/CD25 region by use of tag single-nucleotide polymorphisms

31 March 2020

1 reference

Human immune disorder arising from mutation of the alpha chain of the interleukin-2 receptor

31 March 2020

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CD25 deficiency causes an immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like syndrome, and defective IL-10 expression from CD4 lymphocytes

31 March 2020

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RAG-1-deficient mice have no mature B and T lymphocytes

31 March 2020

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Functional immunoglobulin transgenes guide ordered B-cell differentiation in Rag-1-deficient mice

31 March 2020

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Homeostasis of peripheral B cells in the absence of B cell influx from the bone marrow

31 March 2020

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RAG-2-deficient mice lack mature lymphocytes owing to inability to initiate V(D)J rearrangement

31 March 2020

1 reference

Human severe combined immunodeficiency due to a defect in ZAP-70, a T cell tyrosine kinase

31 March 2020

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ZAP-70 deficiency in an autosomal recessive form of severe combined immunodeficiency

31 March 2020

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A spontaneously arising mutation in the DLAARN motif of murine ZAP-70 abrogates kinase activity and arrests thymocyte development

31 March 2020

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Essential role for ZAP-70 in both positive and negative selection of thymocytes

31 March 2020

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Early lymphocyte expansion is severely impaired in interleukin 7 receptor-deficient mice

31 March 2020

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Leaky Scid phenotype associated with defective V(D)J coding end processing in Artemis-deficient mice

31 March 2020

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Disruption of the adenosine deaminase gene causes hepatocellular impairment and perinatal lethality in mice

31 March 2020

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Adenosine–deaminase–deficient mice die perinatally and exhibit liver–cell degeneration, atelectasis and small intestinal cell death

31 March 2020

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Late embryonic lethality and impaired V(D)J recombination in mice lacking DNA ligase IV

31 March 2020

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Defective lymphoid development in mice lacking expression of the common cytokine receptor gamma chain.

31 March 2020

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Lymphoid development in mice with a targeted deletion of the interleukin 2 receptor gamma chain.

31 March 2020

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Immunoglobulin synthesis and generalized autoimmunity in mice congenitally deficient in αβ(+) T cells

31 March 2020

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DNA repair is limiting for haematopoietic stem cells during ageing

31 March 2020

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A hypomorphic R229Q Rag2 mouse mutant recapitulates human Omenn syndrome

31 March 2020

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Homeostatically proliferating CD4 T cells are involved in the pathogenesis of an Omenn syndrome murine model

31 March 2020

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V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations

31 March 2020

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Aire regulates negative selection of organ-specific T cells

31 March 2020

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Regulatory T cells prevent catastrophic autoimmunity throughout the lifespan of mice

31 March 2020

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Lymphopenia in interleukin (IL)-7 gene-deleted mice identifies IL-7 as a nonredundant cytokine.

31 March 2020

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Stat5a/b are essential for normal lymphoid development and differentiation

31 March 2020

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Stat5b is essential for natural killer cell-mediated proliferation and cytolytic activity

31 March 2020

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Stat5a and Stat5b proteins have essential and nonessential, or redundant, roles in cytokine responses

31 March 2020

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Inactivation of c-Cbl reverses neonatal lethality and T cell developmental arrest of SLP-76-deficient mice

31 March 2020

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Cbl-b is a negative regulator of receptor clustering and raft aggregation in T cells

31 March 2020

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Autoimmunity as the consequence of a spontaneous mutation in Rasgrp1.

31 March 2020

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Impaired T cell death and lupus-like autoimmunity in T cell-specific adapter protein-deficient mice

31 March 2020

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Induction of T helper type 2 immunity by a point mutation in the LAT adaptor

31 March 2020

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A LAT mutation that inhibits T cell development yet induces lymphoproliferation

31 March 2020

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LAT regulates gammadelta T cell homeostasis and differentiation

31 March 2020

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Dual functions for the endoplasmic reticulum calcium sensors STIM1 and STIM2 in T cell activation and tolerance

31 March 2020

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Altered thymic T-cell selection due to a mutation of the ZAP-70 gene causes autoimmune arthritis in mice

31 March 2020

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Mutation of the phospholipase C-gamma1-binding site of LAT affects both positive and negative thymocyte selection

31 March 2020

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LAT-mediated signaling in CD4+CD25+ regulatory T cell development

31 March 2020

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Opposing functions of the T cell receptor kinase ZAP-70 in immunity and tolerance differentially titrate in response to nucleotide substitutions.

31 March 2020

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Wiskott-Aldrich syndrome protein-deficient mice reveal a role for WASP in T but not B cell activation

31 March 2020

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Antigen receptor-induced activation and cytoskeletal rearrangement are impaired in Wiskott-Aldrich syndrome protein-deficient lymphocytes

31 March 2020

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A role for Wiskott-Aldrich syndrome protein in T-cell receptor-mediated transcriptional activation independent of actin polymerization

31 March 2020

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Opposing Effects of PKCθ and WASp on Symmetry Breaking and Relocation of the Immunological Synapse

31 March 2020

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The Wiskott-Aldrich syndrome protein is required for the function of CD4(+)CD25(+)Foxp3(+) regulatory T cells

31 March 2020

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Wiskott-Aldrich syndrome protein is required for regulatory T cell homeostasis

31 March 2020

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WASP regulates suppressor activity of human and murine CD4(+)CD25(+)FOXP3(+) natural regulatory T cells

31 March 2020

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Impaired in vitro regulatory T cell function associated with Wiskott-Aldrich syndrome

31 March 2020

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WIP deficiency reveals a differential role for WIP and the actin cytoskeleton in T and B cell activation

31 March 2020

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WIP null mice display a progressive immunological disorder that resembles Wiskott-Aldrich syndrome

31 March 2020

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Ulcerative colitis-like disease in mice with a disrupted interleukin-2 gene

31 March 2020

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Deregulated T cell activation and autoimmunity in mice lacking interleukin-2 receptor beta

31 March 2020

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Interleukin-2 receptor α chain regulates the size and content of the peripheral lymphoid compartment

31 March 2020

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A function for interleukin 2 in Foxp3-expressing regulatory T cells

31 March 2020

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Tracing the action of IL-2 in tolerance to islet-specific antigen

31 March 2020

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Calcineurin B1 is essential for positive but not negative selection during thymocyte development

31 March 2020

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Disruption of T cell signaling networks and development by Grb2 haploid insufficiency.

31 March 2020

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Signaling by the kinase MINK is essential in the negative selection of autoreactive thymocytes

31 March 2020

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Immunologic self-tolerance maintained by CD25+CD4+ naturally anergic and suppressive T cells: induction of autoimmune disease by breaking their anergic/suppressive state

31 March 2020

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Lymphopenic mice reconstituted with limited repertoire T cells develop severe, multiorgan, Th2-associated inflammatory disease

31 March 2020

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Repertoire-dependent immunopathology

31 March 2020

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Reduced competitiveness of autoantigen-engaged B cells due to increased dependence on BAFF.

31 March 2020

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Lymphotoxin pathway and Aire influences on thymic medullary epithelial cells are unconnected

31 March 2020

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Controlling the thymic microenvironment.

31 March 2020

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Lymphotoxin beta receptor is required for the migration and selection of autoreactive T cells in thymic medulla

31 March 2020

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Lymphotoxin pathway directs thymic Aire expression

31 March 2020

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RANK signals from CD4(+)3(-) inducer cells regulate development of Aire-expressing epithelial cells in the thymic medulla

31 March 2020

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Gene dosage--limiting role of Aire in thymic expression, clonal deletion, and organ-specific autoimmunity.

31 March 2020

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Homeostatic expansion and phenotypic conversion of naïve T cells in response to self peptide/MHC ligands

31 March 2020

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Low-affinity ligands for the TCR drive proliferation of mature CD8+ T cells in lymphopenic hosts

31 March 2020

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Interleukin-7 mediates the homeostasis of naïve and memory CD8 T cells in vivo

31 March 2020

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DCs and peripheral T cell tolerance

31 March 2020

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Severely impaired clonal deletion of CD4+ T cells in low-dose irradiated mice: role of T cell antigen receptor and IL-7 receptor signals

31 March 2020

1 reference

BB rat lyp mutation and Type 1 diabetes

31 March 2020

1 reference

Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant

31 March 2020

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A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes

31 March 2020

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Genetic association between juvenile rheumatoid arthritis and polymorphism in the SH2D2A gene

31 March 2020

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Interleukin 7 receptor alpha chain (IL7R) shows allelic and functional association with multiple sclerosis

31 March 2020

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Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes

31 March 2020

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The genetic and biochemical basis of Omenn syndrome

31 March 2020

1 reference

Autoimmunity in Wiskott-Aldrich syndrome: risk factors, clinical features, and outcome in a single-center cohort of 55 patients

31 March 2020

1 reference

Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locus

31 March 2020

1 reference

Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity

31 March 2020

1 reference

Common variable immunodeficiency: clinical and immunological features of 248 patients.

31 March 2020

1 reference

Juvenile rheumatoid arthritis-like polyarthritis in chromosome 22q11.2 deletion syndrome (digeorge anomalad/velocardiofacial syndrome/conotruncal anomaly face syndrome)

31 March 2020

1 reference

Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).

31 March 2020

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Long-term assessment of T-cell populations in DiGeorge syndrome

31 March 2020

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A novel syndrome of combined immunodeficiency, autoimmunity and spondylometaphyseal dysplasia.

31 March 2020

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Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome

31 March 2020

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inferred from DOI database lookup

7 January 2021

based on heuristic

Defective T cell receptor signaling and CD8+ thymic selection in humans lacking zap-70 kinase

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NRI2336

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Dimensions Publication ID

18 August 2017

1015418998

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