Primary immunodeficiency diseases: an experimental model for molecular medicine (Q34284845)

1 August 2017

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title

Primary immunodeficiency diseases: an experimental model for molecular medicine (English)

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1 August 2017

A Fischer

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language of work or name

English

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publication date

1 June 2001

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1 August 2017

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1 August 2017

volume

357

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1 August 2017

issue

9271

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1 August 2017

page(s)

1863-1869

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X-linked immunodeficiency with hyper-IgM (XHIM).

1 August 2017

cites work

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7 January 2021

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

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7 January 2021

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

1 reference

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7 January 2021

Isolation of a novel gene mutated in Wiskott-Aldrich syndrome

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7 January 2021

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

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7 January 2021

Regulation of MHC class II expression by interferon-gamma mediated by the transactivator gene CIITA.

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Mutation of RFXAP, a Regulator of MHC Class II Genes, in Primary MHC Class II Deficiency

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Natural and engineered disorders of lymphocyte development

1 reference

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7 January 2021

The molecular basis of X-linked severe combined immunodeficiency: defective cytokine receptor signaling

1 reference

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7 January 2021

The interleukin-2 receptor gamma chain: its role in the multiple cytokine receptor complexes and T cell development in XSCID

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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RAG mutations in human B cell-negative SCID.

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7 January 2021

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

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7 January 2021

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

1 reference

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7 January 2021

Defective DNA-dependent protein kinase activity is linked to V(D)J recombination and DNA repair defects associated with the murine scid mutation.

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Immunological reconstitution of sex-linked lymphopenic immunological deficiency

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7 January 2021

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

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Diversity, functionality, and stability of the T cell repertoire derived in vivo from a single human T cell precursor.

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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

1 reference

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7 January 2021

An essential role for BLNK in human B cell development

1 reference

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7 January 2021

Thymic lymphoproliferative disease after successful correction of CD40 ligand deficiency by gene transfer in mice

1 reference

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7 January 2021

Hyper IgM syndrome associated with defective CD40-mediated B cell activation

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2904959-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2904959-X

7 January 2021

Selective IgA deficiency (SIgAD) and common variable immunodeficiency (CVID)

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2904959-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2904959-X

7 January 2021

Susceptibility locus for IgA deficiency and common variable immunodeficiency in the HLA-DR3, -B8, -A1 haplotypes.

1 reference

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7 January 2021

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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7 January 2021

Defect in IgV gene somatic hypermutation in common variable immuno-deficiency syndrome

1 reference

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7 January 2021

The gene defective in X-linked lymphoproliferative disease controls T cell dependent immune surveillance against Epstein-Barr virus

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2904959-X

7 January 2021

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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7 January 2021

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

1 reference

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7 January 2021

Inactivating mutations in an SH2 domain-encoding gene in X-linked lymphoproliferative syndrome

1 reference

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7 January 2021

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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7 January 2021

Perforin gene defects in familial hemophagocytic lymphohistiocytosis.

1 reference

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7 January 2021

Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome

1 reference

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7 January 2021

Identification of the homologous beige and Chediak-Higashi syndrome genes

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2904959-X

7 January 2021

Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2904959-X

7 January 2021

Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2904959-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2904959-X

7 January 2021

X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2904959-X

7 January 2021

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

https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2904959-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2904959-X

7 January 2021

Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2904959-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2904959-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2904959-X

7 January 2021

10.1016/S0140-6736(00)04959-X

Identifiers

DOI

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1 August 2017

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