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Genetic cause of immune dysregulation - one gene or two?

Genetic cause of immune dysregulation - one gene or two?

http://www.wikidata.org/entity/Q39270981

about

A digenic human immunodeficiency characterized by IFNAR1 and IFNGR2 mutations.Two Brothers with Atypical UNC13D-Related Hemophagocytic Lymphohistiocytosis Characterized by Massive Lung and Brain Involvement.

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Genetic cause of immune dysregulation - one gene or two?

http://www.wikidata.org/entity/Q39270981

description

2016 nî lūn-bûn

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2016年の論文

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2016年学术文章

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2016年学术文章

@zh-cn

2016年学术文章

@zh-hans

2016年学术文章

@zh-my

2016年学术文章

@zh-sg

2016年學術文章

@yue

2016年學術文章

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2016年學術文章

@zh-hant

name

Genetic cause of immune dysregulation - one gene or two?

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Genetic cause of immune dysregulation - one gene or two?

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type

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Genetic cause of immune dysregulation - one gene or two?

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Genetic cause of immune dysregulation - one gene or two?

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Genetic cause of immune dysregulation - one gene or two?

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Genetic cause of immune dysregulation - one gene or two?

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Journal of Clinical Investigation

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Genetic cause of immune dysregulation - one gene or two?

@en

P2093

Stuart G Tangye

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P2860

Discovery of single-gene inborn errors of immunity by next generation sequencing

Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity

Agammaglobulinemia

Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4

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

Autoimmunity in human primary immunodeficiency diseases.

Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorder caused by loss-of-function mutations in LRBA.

Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries.

Genetic basis of autoimmunity.

Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015.

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4065-4067

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scholarly article

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10.1172/JCI90831

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11

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126

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5096897

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