Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative (T B NK SCID)

Alias:

Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive

T-B+ Severe Combined Immunodeficiency Due to Jak3 Deficiency

Severe Combined Immunodeficiency, B Cell-Negative

Severe Combined Immunodeficiency Due to Complete Rag1/2 Deficiency

Scid Due to Complete Rag1/2 Deficiency

Immunodeficiency, Severe Combined, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative

Immunodeficiency, Severe Combined, Autosomal Recessive, T-Cell Negative, B-Cell Negative, Nk Cell-Positive

Autosomal Recessive T Cell-Negative, B Cell-Positive, Nk Cell-Negative Severe Combined Immunodeficiency

Severe Combined Immunodeficiency Autosomal Recessive T-Cell-Negative/b-Cell-Negative/nk-Cell-Positive

Severe Combined Immunodeficiency Autosomal Recessive T Cell-Negative/b Cell-Negative/nk Cell-Positive

Severe Combined Immunodeficiency Autosomal Recessive T-Cell Negative/b-Cell Negative/nk-Cell Positive

Severe Combined Immunodeficiency Autosomal Recessive T-Cell-Negative/b-Cell-Positive/nk-Cell-Negative

Severe Combined Immunodeficiency Autosomal Recessive T Cell-Negative/b Cell-Positive/nk Cell-Negative

Severe Combined Immunodeficiency Autosomal Recessive T-Cell Negative/b-Cell Positive/nk-Cell Negative

Autosomal Recessive T Cell-Negative, B-Cell Negative, Nk Cell-Positive Scid

Severe Combined Immunodeficiency Due to Complete Rag1-2 Deficiency

Scid, T Cell-Negative, B Cell-Positive, Nk Cell-Negative

Scid, T Cell-Negative, B Cell-Negative, Nk Cell-Positive

T Cell-Negative, B Cell-Positive, Nk Cell-Negative Scid

Scid, Autosomal Recessive, T-Negative/b-Positive Type

Scid T Cell-Negative B Cell-Negative Nk Cell-Positive

Jak3-Deficient Severe Combined Immunodeficiency

Scid Due to Complete Rag1-2 Deficiency

Autosomal Recessive T-B+nk- Scid

T-B+ Scid Due to Jak3 Deficiency

T B Nk Scid

Jak3 Scid

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Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative, also known as severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive, is related to severe combined immunodeficiency with sensitivity to ionizing radiation and combined cellular and humoral immune defects with granulomas. An important gene associated with Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative is JAK3 (Janus Kinase 3), and among its related pathways/superpathways are RAF/MAP kinase cascade and Cytokine Signaling in Immune system. Affiliated tissues include skin and t cells, and related phenotypes are decreased circulating antibody level and decreased circulating iga level

Related ID：

MALACARDS：SVR096

OMIM：600802

MESH：C563311