Molecular defects in T- and B-cell primary immunodeficiency diseases (Q36302334)

13 August 2017

1 reference

title

Molecular defects in T- and B-cell primary immunodeficiency diseases (English)

1 reference

Charlotte Cunningham-Rundles

13 August 2017

series ordinal

1

object named as

Charlotte Cunningham-Rundles

1 reference

13 August 2017

Prashant P Ponda

2

1 reference

13 August 2017

1 November 2005

1 reference

Nature Reviews Immunology

13 August 2017

1 reference

13 August 2017

5

1 reference

13 August 2017

11

1 reference

13 August 2017

880-892

1 reference

Primary immunodeficiency diseases: an update.

13 August 2017

1 reference

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

21 January 2018

1 reference

Effect of CD3delta deficiency on maturation of alpha/beta and gamma/delta T-cell lineages in severe combined immunodeficiency

21 January 2018

1 reference

Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans

21 January 2018

1 reference

Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency.

21 January 2018

1 reference

RAG mutations in human B cell-negative SCID.

21 January 2018

1 reference

Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution

21 January 2018

1 reference

Development of population-based newborn screening for severe combined immunodeficiency

21 January 2018

1 reference

Role of TBX1 in human del22q11.2 syndrome

21 January 2018

1 reference

Identification of a novel nuclear localization signal in Tbx1 that is deleted in DiGeorge syndrome patients harboring the 1223delC mutation

21 January 2018

1 reference

Independent mutations of the human CD3-epsilon gene resulting in a T cell receptor/CD3 complex immunodeficiency

21 January 2018

1 reference

The SAP and SLAM families in immune responses and X-linked lymphoproliferative disease

21 January 2018

1 reference

FOXP3 acts as a rheostat of the immune response

21 January 2018

1 reference

Immune dysregulation, polyendocrinopathy, enteropathy, and X-linked inheritance (IPEX), a syndrome of systemic autoimmunity caused by mutations of FOXP3, a critical regulator of T-cell homeostasis

21 January 2018

1 reference

The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3

21 January 2018

1 reference

Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome

21 January 2018

1 reference

An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains

21 January 2018

1 reference

21 January 2018

1 reference

Medullary epithelial cells of the human thymus express a highly diverse selection of tissue-specific genes colocalized in chromosomal clusters

21 January 2018

1 reference

Human thymic stromal lymphopoietin promotes dendritic cell-mediated CD4+ T cell homeostatic expansion.

21 January 2018

1 reference

AIRE functions as an E3 ubiquitin ligase

21 January 2018

1 reference

Cell-death signaling and human disease

21 January 2018

1 reference

Pleiotropic defects in lymphocyte activation caused by caspase-8 mutations lead to human immunodeficiency

21 January 2018

1 reference

Caspase-10 is an initiator caspase in death receptor signaling

21 January 2018

1 reference

Autoimmune lymphoproliferative syndrome with somatic Fas mutations

21 January 2018

1 reference

Class-switch recombination: after the dawn of AID.

21 January 2018

1 reference

Somatic hypermutation of immunoglobulin genes: merging mechanisms for genetic diversity

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling

21 January 2018

1 reference

Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia

21 January 2018

1 reference

The presentation and natural history of immunodeficiency caused by nuclear factor kappaB essential modulator mutation

21 January 2018

1 reference

Mutations in activation-induced cytidine deaminase in patients with hyper IgM syndrome

21 January 2018

1 reference

The block in immunoglobulin class switch recombination caused by activation-induced cytidine deaminase deficiency occurs prior to the generation of DNA double strand breaks in switch mu region

21 January 2018

1 reference

Replication protein A interacts with AID to promote deamination of somatic hypermutation targets

21 January 2018

1 reference

Inherited disorders of NF-kappaB-mediated immunity in man.

21 January 2018

1 reference

Toll-like receptor signalling

21 January 2018

1 reference

Distinct mutations in IRAK-4 confer hyporesponsiveness to lipopolysaccharide and interleukin-1 in a patient with recurrent bacterial infections

21 January 2018

1 reference

Pyogenic bacterial infections in humans with IRAK-4 deficiency

21 January 2018

1 reference

Differential modulation of endotoxin responsiveness by human caspase-12 polymorphisms

21 January 2018

1 reference

Primary immunodeficiency diseases due to defects in lymphocytes

21 January 2018

1 reference

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

21 January 2018

1 reference

Pulmonary complications of primary immunodeficiencies

21 January 2018

1 reference

Bronchiectasis in hypogammaglobulinaemia--a computed tomography assessment

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Impaired Ca2+ mobilization by X-linked agammaglobulinaemia (XLA) B cells in response to ligation of the B cell receptor (BCR).

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

ICOS deficiency in patients with common variable immunodeficiency.

21 January 2018

1 reference

IL-10 interrupts memory B cell expansion in the germinal center by inducing differentiation into plasma cells

21 January 2018

1 reference

Inducible CO-stimulator molecule, a candidate gene for defective isotype switching, is normal in patients with hyper-IgM syndrome of unknown molecular diagnosis.

21 January 2018

1 reference

TACI and BCMA are receptors for a TNF homologue implicated in B-cell autoimmune disease

21 January 2018

1 reference

BAFF-R, a newly identified TNF receptor that specifically interacts with BAFF

21 January 2018

1 reference

A soluble form of B cell maturation antigen, a receptor for the tumor necrosis factor family member APRIL, inhibits tumor cell growth

21 January 2018

1 reference

DCs induce CD40-independent immunoglobulin class switching through BLyS and APRIL

21 January 2018

1 reference

Physiology of IgA and IgA deficiency

21 January 2018

1 reference

Genetic linkage of IgA deficiency to the major histocompatibility complex: evidence for allele segregation distortion, parent-of-origin penetrance differences, and the role of anti-IgA antibodies in disease predisposition

21 January 2018

1 reference

Fine-scale mapping at IGAD1 and genome-wide genetic linkage analysis implicate HLA-DQ/DR as a major susceptibility locus in selective IgA deficiency and common variable immunodeficiency

21 January 2018

1 reference

PEG-ADA replacement therapy for adenosine deaminase deficiency: an update after 8.5 years

21 January 2018

1 reference

A historical review of bone marrow transplantation for immunodeficiencies

21 January 2018

1 reference

Hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency.

21 January 2018

1 reference

Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease

21 January 2018

1 reference

Sustained correction of X-linked severe combined immunodeficiency by ex vivo gene therapy

21 January 2018

1 reference

Correction of ADA-SCID by stem cell gene therapy combined with nonmyeloablative conditioning

21 January 2018

1 reference

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

21 January 2018

1 reference

Activation of the T-cell oncogene LMO2 after gene therapy for X-linked severe combined immunodeficiency

21 January 2018

1 reference

Megadose transplantation of purified peripheral blood CD34(+) progenitor cells from HLA-mismatched parental donors in children

21 January 2018

1 reference

American Society of Gene Therapy (ASGT) ad hoc subcommittee on retroviral-mediated gene transfer to hematopoietic stem cells

21 January 2018

1 reference

Exposing the human nude phenotype.

21 January 2018

1 reference

BLNK: a central linker protein in B cell activation

21 January 2018

1 reference

An essential role for BLNK in human B cell development

21 January 2018

1 reference

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

21 January 2018

1 reference

TACI is mutant in common variable immunodeficiency and IgA deficiency

21 January 2018

1 reference

Treatment of the Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome (IPEX) by Allogeneic Bone Marrow Transplantation

21 January 2018

1 reference

A hypermorphic IκBα mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency

21 January 2018

1 reference

Long-term survival and transplantation of haemopoietic stem cells for immunodeficiencies: report of the European experience 1968–99

21 January 2018

1 reference

Mutations in the tyrosine phosphatase CD45 gene in a child with severe combined immunodeficiency disease

21 January 2018

1 reference

Mutation of Jak3 in a patient with SCID: essential role of Jak3 in lymphoid development.

31 March 2020

1 reference

Adenosine-deaminase deficiency in two patients with severely impaired cellular immunity

31 March 2020

1 reference

Thymic function after hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency

31 March 2020

1 reference

Hematopoietic stem cell transplantation for severe combined immunodeficiency in the neonatal period leads to superior thymic output and improved survival

31 March 2020

1 reference

Brief report: primary immunodeficiency caused by mutations in the gene encoding the CD3-gamma subunit of the T-lymphocyte receptor

31 March 2020

1 reference

HLA class I deficiencies due to mutations in subunit 1 of the peptide transporter TAP1.

31 March 2020

1 reference

Association of HLA class I antigen deficiency related to a TAP2 gene mutation with familial bronchiectasis

31 March 2020

1 reference

Defective expression of p56lck in an infant with severe combined immunodeficiency

31 March 2020

1 reference

Familial CD8 deficiency due to a mutation in the CD8 alpha gene.

31 March 2020

1 reference

CD4+CD25high regulatory cells in human peripheral blood

31 March 2020

1 reference

Combination therapy with tacrolimus and betamethasone for a patient with X-linked auto-immune enteropathy

31 March 2020

1 reference

Clinical, immunological, and pathological consequences of Fas-deficient conditions

31 March 2020

1 reference

Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity

31 March 2020

1 reference

The molecular basis for apoptotic defects in patients with CD95 (Fas/Apo-1) mutations

31 March 2020

1 reference

Fas ligand mutation in a patient with systemic lupus erythematosus and lymphoproliferative disease

31 March 2020

1 reference

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

31 March 2020

1 reference

Disseminated cryptosporidium infection in an infant with hyper-IgM syndrome caused by CD40 deficiency.

31 March 2020

1 reference

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

31 March 2020

1 reference

A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency

31 March 2020

1 reference

The hyper IgM syndrome--an evolving story

31 March 2020

1 reference

X-linked immunodeficiencies

31 March 2020

1 reference

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

31 March 2020

1 reference

Immunoglobulin heavy chain expression shapes the B cell receptor repertoire in human B cell development

31 March 2020

1 reference

Bruton tyrosine kinase is tyrosine phosphorylated and activated in pre-B lymphocytes and receptor-ligated B cells

31 March 2020

1 reference

A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humans

31 March 2020

1 reference

Primary immunodeficiency diseases. Report of an IUIS Scientific Committee. International Union of Immunological Societies

31 March 2020

1 reference

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

31 March 2020

1 reference

Alterations of the X-linked lymphoproliferative disease gene SH2D1A in common variable immunodeficiency syndrome

31 March 2020

1 reference

Family and linkage study of selective IgA deficiency and common variable immunodeficiency.

31 March 2020

1 reference

T cell repertoire development in humans with SCID after nonablative allogeneic marrow transplantation

31 March 2020

1 reference

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

31 March 2020

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Chronic enteroviral meningoencephalitis in agammaglobulinemic patients

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NRI1713

1 reference

13 August 2017

1 reference

PubMed ID

16261175