4 Primary immunodeficiency mutation databases (Q56804104)

13

Jennifer M Puck

0 references

Lennart Hammarström

6

Lennart Hammarström

0 references

Jean-Laurent Casanova

3

Jean-Laurent Casanova

0 references

Luigi D Notarangelo

12

Luigi D Notarangelo

0 references

Silvia Giliani

5

Silvia Giliani

0 references

Amos Etzioni

4

Amos Etzioni

0 references

Klaus Schwarz

17

Klaus Schwarz

0 references

Michael Hershfield

7

Michael S Hershfield

0 references

Aleksi Lähdesmäki

10

Aleksi Lähdesmäki

0 references

author name string

Mauno Vihinen

1

0 references

Francisco X Arredondo-Vega

2

0 references

Paul G Heyworth

8

0 references

Amy P Hsu

9

0 references

Walter Reith

14

0 references

Dirk Roos

15

0 references

Richard F Schumacher

16

0 references

Paolo Vezzoni

18

0 references

Anna Villa

19

0 references

Jouni Väliaho

20

0 references

C.I Edvard Smith

Structure of Cdc42 in complex with the GTPase-binding domain of the 'Wiskott-Aldrich syndrome' protein

21

0 references

publication date

2001

0 references

published in

Advances in Genetics

0 references

page(s)

103-188

0 references

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Activation of the NADPH oxidase involves the small GTP-binding protein p21rac1

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Transposition mediated by RAG1 and RAG2 and its implications for the evolution of the immune system

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

CD40 Ligand Gene Defects Responsible for X-Linked Hyper-IgM Syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

A causative relationship between mutant IFNgR1 alleles and impaired cellular response to IFNgamma in a compound heterozygous child

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Inherited interleukin 12 deficiency in a child with bacille Calmette-Guérin and Salmonella enteritidis disseminated infection

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Are anti-ribosomal P protein antibodies a type of anti-lymphocyte antibody?

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Identification of residues on CD40 and its ligand which are critical for the receptor-ligand interaction

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Analysis of gp39/CD40 interactions using molecular models and site-directed mutagenesis

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Hairpin coding end opening is mediated by RAG1 and RAG2 proteins

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Actin polymerization: Where the WASP stings

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

T lymphocyte-directed gene therapy for ADA- SCID: initial trial results after 4 years.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Two novel mutations in the MHC class II transactivator CIITA in a second patient from MHC class II deficiency complementation group A.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Gene therapy in peripheral blood lymphocytes and bone marrow for ADA- immunodeficient patients

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

A common set of factors control the expression of the MHC class II, invariant chain, and HLA-DM genes

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Molecular and biochemical characterization of JAK3 deficiency in a patient with severe combined immunodeficiency over 20 years after bone marrow transplantation: implications for treatment

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Epstein-Barr virus-negative boys with non-Hodgkin lymphoma are mutated in the SH2D1A gene, as are patients with X-linked lymphoproliferative disease (XLP)

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Crystal structure of a cytokine-binding region of gp130.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Ineffective expression of CD40 ligand on cord blood T cells may contribute to poor immunoglobulin production in the newborn

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

The V(D)J recombination activating protein RAG2 consists of a six-bladed propeller and a PHD fingerlike domain, as revealed by sequence analysis

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Immunological conditions of children with BCG disseminated infection

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

New mutations, polymorphisms, and rare variants in the ATM gene detected by a novel SSCP strategy

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Mice lacking the MHC class II transactivator (CIITA) show tissue-specific impairment of MHC class II expression

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Residual MHC class II expression on mature dendritic cells and activated B cells in RFX5-deficient mice.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

A novel receptor involved in T-cell activation

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Diversity ofATM gene mutations detected in patients with ataxia-telangiectasia

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Mutations in btk in patients with presumed X-linked agammaglobulinemia

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

The cytosolic activating factors p47phox and p67phox have distinct roles in the regulation of electron flow in NADPH oxidase

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Cytochrome b-245 of the neutrophil superoxide-generating system contains two nonidentical hemes. Potentiometric studies of a mutant form of gp91phox

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Jak-STAT signaling induced by the v-abl oncogene

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Severe mycobacterial and Salmonella infections in interleukin-12 receptor-deficient patients

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

CD40 ligand expression deficiency in a female carrier of the X-linked hyper-IgM syndrome as a result of X chromosome lyonization

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Isolation of a novel gene mutated in Wiskott-Aldrich syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

The mouse homolog of the Wiskott-Aldrich syndrome protein (WASP) gene is highly conserved and maps near the scurfy (sf) mutation on the X chromosome

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

The bare lymphocyte syndrome: molecular clues to the transcriptional regulation of major histocompatibility complex class II genes

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

The glycoprotein encoded by the X-linked chronic granulomatous disease locus is a component of the neutrophil cytochrome b complex

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

CD40 ligand mutations in X-linked immunodeficiency with hyper-IgM

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Partial Interferon‐γ Receptor Signaling Chain Deficiency in a Patient with Bacille Calmette‐Guérin andMycobacterium abscessusInfection

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Mutation in the signal-transducing chain of the interferon-gamma receptor and susceptibility to mycobacterial infection

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

RFXAP, a novel subunit of the RFX DNA binding complex is mutated in MHC class II deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Cancer risks in A-T heterozygotes

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

RFX proteins, a novel family of DNA binding proteins conserved in the eukaryotic kingdom

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Correlation of granuloma structure with clinical outcome defines two types of idiopathic disseminated BCG infection

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Integrins--the glue of life

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Intramembrane Bis-Heme Motif for Transmembrane Electron Transport Conserved in a Yeast Iron Reductase and the Human NADPH Oxidase

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

European experience of bone-marrow transplantation for severe combined immunodeficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Genetic and molecular definition of complementation group D in MHC class II deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

The class II transactivator CIITA is a transcriptional integrator

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Host defense molecule polymorphisms influence the risk for immune-mediated complications in chronic granulomatous disease

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Cyclosporin A inhibits CD40 ligand expression in T lymphocytes

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Structure of the winged-helix protein hRFX1 reveals a new mode of DNA binding

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Genotype-phenotype relationships in ataxia-telangiectasia and variants.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

A p47-phox pseudogene carries the most common mutation causing p47-phox- deficient chronic granulomatous disease

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

The role of CD40 ligand in costimulation and T-cell activation

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Crystal structure of the interleukin-4/receptor alpha chain complex reveals a mosaic binding interface

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

The identification and characterization of two promoters and the complete genomic sequence for the Wiskott-Aldrich syndrome gene

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Solution structure of the SH3 domain from Bruton's tyrosine kinase

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

GTP binding by class II transactivator: role in nuclear import

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

IL-2R gamma gene microdeletion demonstrates that canine X-linked severe combined immunodeficiency is a homologue of the human disease

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

A perfect message: RNA surveillance and nonsense-mediated decay

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Neutrophil nicotinamide adenine dinucleotide phosphate oxidase assembly. Translocation of p47-phox and p67-phox requires interaction between p47-phox and cytochrome b558.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Influence of the C terminus of Wiskott-Aldrich syndrome protein (WASp) and the Arp2/3 complex on actin polymerization

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

DNA transposition by the RAG1 and RAG2 proteins: a possible source of oncogenic translocations

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

JAK3 maps to human chromosome 19p12 within a cluster of proto-oncogenes and transcription factors

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

A novel leukocyte adhesion deficiency caused by expressed but nonfunctional beta2 integrins Mac-1 and LFA-1.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Mutation screening of the BTK gene in 56 families with X-linked agammaglobulinemia (XLA): 47 unique mutations without correlation to clinical course

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Abnormal regulation of interferon-gamma, interleukin-12, and tumor necrosis factor-alpha in human interferon-gamma receptor 1 deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Structure of the PH domain and Btk motif from Bruton's tyrosine kinase: molecular explanations for X-linked agammaglobulinaemia

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guérin infection

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Partial interferon-gamma receptor 1 deficiency in a child with tuberculoid bacillus Calmette-Guérin infection and a sibling with clinical tuberculosis

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

In a novel form of IFN-gamma receptor 1 deficiency, cell surface receptors fail to bind IFN-gamma

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

2 A crystal structure of an extracellular fragment of human CD40 ligand

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

ATM associates with and phosphorylates p53: mapping the region of interaction

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Dual role of RAG2 in V(D)J recombination: catalysis and regulation of ordered Ig gene assembly

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Heterogeneous mutations in the beta subunit common to the LFA-1, Mac-1, and p150,95 glycoproteins cause leukocyte adhesion deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Sharing of the interleukin-2 (IL-2) receptor gamma chain between receptors for IL-2 and IL-4

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Structural basis for SH2D1A mutations in X-linked lymphoproliferative disease

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

156Pro-->Gln substitution in the light chain of cytochrome b558 of the human NADPH oxidase (p22-phox) leads to defective translocation of the cytosolic proteins p47-phox and p67-phox

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

A point mutation in gp91-phox of cytochrome b558 of the human NADPH oxidase leading to defective translocation of the cytosolic proteins p47-phox and p67-phox

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Disturbed interaction of p21-rac with mutated p67-phox causes chronic granulomatous disease

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Familial disseminated atypical mycobacterial infection in childhood: a human mycobacterial susceptibility gene?

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Clinical spectrum of X-linked hyper-IgM syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID)

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Scar1 and the related Wiskott-Aldrich syndrome protein, WASP, regulate the actin cytoskeleton through the Arp2/3 complex

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Binding of Transforming Protein, P47 gag-crk , to a Broad Range of Phosphotyrosine-containing Proteins

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Constitutively Activated Jak-STAT Pathway in T Cells Transformed with HTLV-I

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Activation of the MHC class II transactivator CIITA by interferon-gamma requires cooperative interaction between Stat1 and USF-1

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Expression of MHC class II molecules in different cellular and functional compartments is controlled by differential usage of multiple promoters of the transactivator CIITA.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

RFX-B is the gene responsible for the most common cause of the bare lymphocyte syndrome, an MHC class II immunodeficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

A mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infection

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

The p67(phox) activation domain regulates electron flow from NADPH to flavin in flavocytochrome b(558)

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

A novel mutation in the CYBB gene resulting in an unexpected pattern of exon skipping and chronic granulomatous disease

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

CD40Lbase: a database of CD40L gene mutations causing X-linked hyper-IgM syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

The Wiskott-Aldrich syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

RAG-1 and RAG-2, adjacent genes that synergistically activate V(D)J recombination

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Gene therapy for severe combined immunodeficiency caused by adenosine deaminase deficiency: improved retroviral vectors for clinical trials

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Jaks, STATs, cytokine signal transduction, and immunoregulation: are we there yet?

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Class II MHC genes: a model gene regulatory system with great biologic consequences

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

X-linked Wiskott-Aldrich syndrome in a girl

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Defective MHC class II expression in an MHC class II deficiency patient is caused by a novel deletion of a splice donor site in the MHC class II transactivator gene

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Molecular analysis of an MHC class II deficiency patient reveals a novel mutation in the RFX5 gene

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Fatal Disseminated Mycobacterium smegmatis Infection in a Child with Inherited Interferon Receptor Deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Crystal structures of the XLP protein SAP reveal a class of SH2 domains with extended, phosphotyrosine-independent sequence recognition

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Structure of the enabled/VASP homology 1 domain-peptide complex: a key component in the spatial control of actin assembly

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

IL2RGbase: a database of gamma c-chain defects causing human X-SCID

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Letter: Fatal infectious mononucleosis in familial lymphohistiocytosis.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Absence of MHC class II gene expression in a patient with a single amino acid substitution in the class II transactivator protein CIITA.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

In vitro bactericidal capacity of human polymorphonuclear leukocytes: diminished activity in chronic granulomatous disease of childhood

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

The molecular basis of MHC class II deficiency and transcriptional control of MHC class II gene expression.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Genomic sequence, organization, and chromosomal localization of human JAK3.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

MUTbase: maintenance and analysis of distributed mutation databases.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Leukocyte adhesion deficiency mimicking Hirschsprung disease

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Listeria monocytogenes and recurrent mycobacterial infections in a child with complete interferon-gamma-receptor (IFNgammaR1) deficiency: mutational analysis and evaluation of therapeutic options

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Cloning the gene for an inherited human disorder--chronic granulomatous disease--on the basis of its chromosomal location

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Interaction of IL-2R beta and gamma c chains with Jak1 and Jak3: implications for XSCID and XCID

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Interleukin-2 receptor gamma chain: a functional component of the interleukin-4 receptor

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

The RAG1/RAG2 complex constitutes a 3' flap endonuclease: implications for junctional diversity in V(D)J and transpositional recombination

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease. Contribution of genotype to phenotype

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

A single ataxia telangiectasia gene with a product similar to PI-3 kinase

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

The V(D)J recombination activating gene, RAG-1.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Prenatal diagnosis of JAK3 deficient SCID

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

RAG mutations in human B cell-negative SCID.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

WASPbase: a database of WAS- and XLT-causing mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

X-linked lymphoproliferative disease: twenty-five years after the discovery

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Stimulated neutrophils from patients with autosomal recessive chronic granulomatous disease fail to phosphorylate a Mr-44,000 protein

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Cytochrome b-245 is a flavocytochrome containing FAD and the NADPH-binding site of the microbicidal oxidase of phagocytes

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Interaction between ATM protein and c-Abl in response to DNA damage

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Structural organization of the gene for CD40 ligand: molecular analysis for diagnosis of X-linked hyper-IgM syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Molecular basis for X-linked immunodeficiencies

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Regional localization of CD18, the beta-subunit of the cell surface adhesion molecule LFA-1, on human chromosome 21 by in situ hybridization

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

A novel DNA-binding regulatory factor is mutated in primary MHC class II deficiency (bare lymphocyte syndrome)

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Complementation cloning of an MHC class II transactivator mutated in hereditary MHC class II deficiency (or bare lymphocyte syndrome)

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Atypical X-Linked Severe Combined Immunodeficiency Due to Possible Spontaneous Reversion of the Genetic Defect in T Cells

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Studies of the expression of the Wiskott-Aldrich syndrome protein

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Molecular cloning of rat JAK3, a novel member of the JAK family of protein tyrosine kinases

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

A structural model for the nucleotide binding domains of the flavocytochrome b-245 beta-chain

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

The X-linked chronic granulomatous disease gene codes for the beta-chain of cytochrome b-245

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Expression of Janus kinase 3 in human endothelial and other non-lymphoid and non-myeloid cells

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

BTKbase: XLA-mutation registry

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

BTKbase: a database of XLA-causing mutations. International Study Group.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

BTKbase, mutation database for X-linked agammaglobulinemia (XLA).

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Mutations of the humanBTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

BTK, the tyrosine kinase affected in X-linked agammaglobulinemia.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Structural basis of SH2 domain mutations in X-linked agammaglobulinemia

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Missense mutations affecting a conserved cysteine pair in the TH domain of Btk.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Mutation of RFXAP, a regulator of MHC class II genes, in primary MHC class II deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Analysis of mutations and chromosomal localisation of the gene encoding RFX5, a novel transcription factor affected in major histocompatibility complex class II deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Clustering of missense mutations in the ataxia-telangiectasia gene in a sporadic T-cell leukaemia

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Analysis of glycosylation sites on gp91phox, the flavocytochrome of the NADPH oxidase, by site-directed mutagenesis and translation in vitro

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Sequence of human adenosine deaminase cDNA including the coding region and a small intron

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Complete sequence and structure of the gene for human adenosine deaminase

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Mice lacking the transcription factor CIITA--a second look

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

A pre-transition-state mimic of an enzyme: X-ray structure of adenosine deaminase with bound 1-deazaadenosine and zinc-activated water

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Atomic structure of adenosine deaminase complexed with a transition-state analog: understanding catalysis and immunodeficiency mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Involvement of the Jak-3 Janus kinase in signalling by interleukins 2 and 4 in lymphoid and myeloid cells

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Molecular characterization of leukocyte adhesion deficiency in six patients

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Growing Y-junction carbon nanotubes

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Constitutive activation of different Jak tyrosine kinases in human T cell leukemia virus type 1 (HTLV-1) tax protein or virus-transformed cells

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Targeted disruption of ATM leads to growth retardation, chromosomal fragmentation during meiosis, immune defects, and thymic lymphoma

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

SH2D1A mutation analysis for diagnosis of XLP in typical and atypical patients

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Cloning and chromosomal mapping of bovine interleukin-2 receptor gamma gene

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

The CIS/JAB family: novel negative regulators of JAK signaling pathways

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Biosynthesis of the phagocyte NADPH oxidase cytochrome b558. Role of heme incorporation and heterodimer formation in maturation and stability of gp91phox and p22phox subunits

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021

Molecular and cellular aspects of X-linked agammaglobulinemia.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7

7 January 2021