Mutations in genes required for T-cell development: IL7R, CD45, IL2RG, JAK3, RAG1, RAG2, ARTEMIS, and ADA and severe combined immunodeficiency: HuGE review (Q28239014)

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scientific article (publication date: 2004)

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English	Mutations in genes required for T-cell development: IL7R, CD45, IL2RG, JAK3, RAG1, RAG2, ARTEMIS, and ADA and severe combined immunodeficiency: HuGE review	scientific article (publication date: 2004)

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scholarly article

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Europe PubMed Central

Mutations in genes required for T-cell development: IL7R, CD45, IL2RG, JAK3, RAG1, RAG2, ARTEMIS, and ADA and severe combined immunodeficiency: HuGE review (English)

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severe combined immunodeficiency

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based on heuristic

inferred from title

Mary Lou Lindegren

2

object named as

Mary Lou Lindegren

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author name string

Lisa Kalman

1

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Lisa Kobrynski

3

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Robert Vogt

4

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Harry Hannon

5

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Joelyn Tonkin Howard

6

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Rebecca Buckley

7

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language of work or name

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publication date

2004

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Genetics in Medicine

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6

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1

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16-26

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

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Primary cellular immunodeficiencies

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A deletion in the gene encoding the CD45 antigen in a patient with SCID.

1 reference

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Severe combined immunodeficiency with abnormalities in expression of the common leucocyte antigen, CD45

1 reference

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

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Defective human interleukin 2 receptor gamma chain in an atypical X chromosome-linked severe combined immunodeficiency with peripheral T cells

1 reference

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Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency.

1 reference

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A founder mutation in Artemis, an SNM1-like protein, causes SCID in Athabascan-speaking Native Americans

1 reference

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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

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Prenatal diagnosis and carrier detection for Athabascan severe combined immunodeficiency disease

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

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Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 patients

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Lymphocyte subsets in healthy children from birth through 18 years of age: the Pediatric AIDS Clinical Trials Group P1009 study

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T-cell immunodeficiencies

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Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies)

1 reference

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Primary immunodeficiency diseases

1 reference

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The chondro-osseous dysplasia of adenosine deaminase deficiency with severe combined immunodeficiency

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Cognitive and behavioral abnormalities in adenosine deaminase deficient severe combined immunodeficiency

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Oral and genital ulceration: a unique presentation of immunodeficiency in Athabascan-speaking American Indian children with severe combined immunodeficiency

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Flow cytometric immunophenotyping in the diagnosis and follow-up of immunodeficient children

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

1 reference

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

1 reference

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

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Gene therapy. Seeking the cause of induced leukemias in X-SCID trial

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Gene therapy. Second child in French trial is found to have leukemia

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A serious adverse event after successful gene therapy for X-linked severe combined immunodeficiency

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

1 reference

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

1 reference

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

1 reference

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Treatment of adenosine deaminase deficiency with polyethylene glycol-modified adenosine deaminase

1 reference

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PEG-ADA: an alternative to haploidentical bone marrow transplantation and an adjunct to gene therapy for adenosine deaminase deficiency

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Cutaneous complications of BCG vaccination in infants with immune disorders: two cases and a review of the literature

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Chronic Progressive Poliomyelitis Secondary to Vaccination of an Immunodeficient Child

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Disseminated BCG infection in a patient with severe combined immunodeficiency

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Of genes and phenotypes: the immunological and molecular spectrum of combined immune deficiency. Defects of the gamma(c)-JAK3 signaling pathway as a model

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Omenn syndrome: a disorder of Rag1 and Rag2 genes.

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The genetic and biochemical basis of Omenn syndrome

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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

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Heterogeneity of phenotype in two siblings with adenosine deaminase deficiency

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Red cell adenosine deaminase (ADA) polymorphism in Southern Africa, with special reference to ADA deficiency among the !Kung

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Molecular basis for paradoxical carriers of adenosine deaminase (ADA) deficiency that show extremely low levels of ADA activity in peripheral blood cells without immunodeficiency

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Unexpected and variable phenotypes in a family with JAK3 deficiency

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Carrier and prenatal diagnosis of X-linked severe combined immunodeficiency: mutation detection methods and utilization

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Flow cytometric analysis of immunoprecipitates: high-throughput analysis of protein phosphorylation and protein-protein interactions

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T cell receptor excision circles as markers for recent thymic emigrants: basic aspects, technical approach, and guidelines for interpretation

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

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Primary immunodeficiency disorders in Sweden: Cases among children, 1974?1979

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

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21 January 2018

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