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Primary immunodeficiency diseases: an experimental model for molecular medicine
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scholarly article
1 reference
stated in
Europe PubMed Central
PubMed ID
11410213
retrieved
1 August 2017
review article
1 reference
stated in
Europe PubMed Central
title
Primary immunodeficiency diseases: an experimental model for molecular medicine
(English)
1 reference
stated in
Europe PubMed Central
PubMed ID
11410213
retrieved
1 August 2017
author
Alain Fischer
series ordinal
1
object named as
A Fischer
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language of work or name
English
0 references
publication date
1 June 2001
1 reference
stated in
Europe PubMed Central
PubMed ID
11410213
retrieved
1 August 2017
published in
The Lancet
1 reference
stated in
Europe PubMed Central
PubMed ID
11410213
retrieved
1 August 2017
volume
357
1 reference
stated in
Europe PubMed Central
PubMed ID
11410213
retrieved
1 August 2017
issue
9271
1 reference
stated in
Europe PubMed Central
PubMed ID
11410213
retrieved
1 August 2017
page(s)
1863-1869
1 reference
stated in
Europe PubMed Central
PubMed ID
11410213
retrieved
1 August 2017
cites work
X-linked immunodeficiency with hyper-IgM (XHIM).
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The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases
1 reference
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https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2904959-X
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Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia
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Isolation of a novel gene mutated in Wiskott-Aldrich syndrome
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A single ataxia telangiectasia gene with a product similar to PI-3 kinase
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Regulation of MHC class II expression by interferon-gamma mediated by the transactivator gene CIITA.
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A novel DNA-binding regulatory factor is mutated in primary MHC class II deficiency (bare lymphocyte syndrome)
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Mutation of RFXAP, a regulator of MHC class II genes, in primary MHC class II deficiency
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A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients
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7 January 2021
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Natural and engineered disorders of lymphocyte development
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7 January 2021
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The molecular basis of X-linked severe combined immunodeficiency: defective cytokine receptor signaling
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7 January 2021
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The interleukin-2 receptor gamma chain: its role in the multiple cytokine receptor complexes and T cell development in XSCID
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7 January 2021
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Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency
1 reference
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Crossref
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https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2904959-X
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7 January 2021
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Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID)
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https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2904959-X
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7 January 2021
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Mutation of Jak3 in a patient with SCID: essential role of Jak3 in lymphoid development.
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RAG and RAG defects
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7 January 2021
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RAG mutations in human B cell-negative SCID.
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Partial V(D)J recombination activity leads to Omenn syndrome
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Restricted heterogeneity of T lymphocytes in combined immunodeficiency with hypereosinophilia (Omenn's syndrome).
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Defective DNA-dependent protein kinase activity is linked to V(D)J recombination and DNA repair defects associated with the murine scid mutation.
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https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2904959-X
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A human severe combined immunodeficiency (SCID) condition with increased sensitivity to ionizing radiations and impaired V(D)J rearrangements defines a new DNA recombination/repair deficiency
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Immunological reconstitution of sex-linked lymphopenic immunological deficiency
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Hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency.
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https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2904959-X
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7 January 2021
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Thymic function after hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency
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Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency
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Diversity, functionality, and stability of the T cell repertoire derived in vivo from a single human T cell precursor.
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Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease
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https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2904959-X
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7 January 2021
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Mutations in the mu heavy-chain gene in patients with agammaglobulinemia
1 reference
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https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2904959-X
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7 January 2021
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Mutations in Igalpha (CD79a) result in a complete block in B-cell development
1 reference
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https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2904959-X
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An essential role for BLNK in human B cell development
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Crossref
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https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2904959-X
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7 January 2021
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Thymic lymphoproliferative disease after successful correction of CD40 ligand deficiency by gene transfer in mice
1 reference
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Crossref
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https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2904959-X
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7 January 2021
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Hyper IgM syndrome associated with defective CD40-mediated B cell activation
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https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2904959-X
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Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2)
1 reference
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https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2904959-X
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7 January 2021
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Selective IgA deficiency (SIgAD) and common variable immunodeficiency (CVID)
1 reference
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Crossref
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https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2904959-X
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7 January 2021
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Fine mapping of IGAD1 in IgA deficiency and common variable immunodeficiency: identification and characterization of haplotypes shared by affected members of 101 multiple-case families
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https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2904959-X
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7 January 2021
based on heuristic
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Susceptibility locus for IgA deficiency and common variable immunodeficiency in the HLA-DR3, -B8, -A1 haplotypes.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2904959-X
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7 January 2021
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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
1 reference
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https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2904959-X
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7 January 2021
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Defect in IgV gene somatic hypermutation in common variable immuno-deficiency syndrome
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2904959-X
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7 January 2021
based on heuristic
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The gene defective in X-linked lymphoproliferative disease controls T cell dependent immune surveillance against Epstein-Barr virus
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2904959-X
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7 January 2021
based on heuristic
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Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2904959-X
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7 January 2021
based on heuristic
inferred from DOI database lookup
The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2904959-X
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7 January 2021
based on heuristic
inferred from DOI database lookup
Inactivating mutations in an SH2 domain-encoding gene in X-linked lymphoproliferative syndrome
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2904959-X
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7 January 2021
based on heuristic
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X-linked lymphoproliferative disease. 2B4 molecules displaying inhibitory rather than activating function are responsible for the inability of natural killer cells to kill Epstein-Barr virus-infected cells
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2904959-X
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7 January 2021
based on heuristic
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Perforin gene defects in familial hemophagocytic lymphohistiocytosis.
1 reference
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Crossref
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https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2904959-X
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7 January 2021
based on heuristic
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Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome
1 reference
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7 January 2021
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Identification of the homologous beige and Chediak-Higashi syndrome genes
1 reference
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https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2904959-X
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7 January 2021
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Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2904959-X
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7 January 2021
based on heuristic
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Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia
1 reference
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Crossref
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https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2904959-X
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7 January 2021
based on heuristic
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The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3
1 reference
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https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2904959-X
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7 January 2021
based on heuristic
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X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy
1 reference
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https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2904959-X
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7 January 2021
based on heuristic
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A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO)
1 reference
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https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2904959-X
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7 January 2021
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Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2904959-X
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7 January 2021
based on heuristic
inferred from DOI database lookup
Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2904959-X
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7 January 2021
based on heuristic
inferred from DOI database lookup
X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2904959-X
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7 January 2021
based on heuristic
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Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2904959-X
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7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1016/S0140-6736(00)04959-X
1 reference
stated in
Europe PubMed Central
PubMed ID
11410213
retrieved
1 August 2017
PubMed ID
11410213
1 reference
stated in
Europe PubMed Central
PubMed ID
11410213
retrieved
1 August 2017
ResearchGate publication ID
11930201
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