Severe Combined Immunodeficiency, X-Linked (SCIDX1)

Alias:
X-Linked Severe Combined Immunodeficiency
Scidx1
Xscid
X-Linked Combined Immunodeficiency Diseases
T-B+ Severe Combined Immunodeficiency Due to Gamma Chain Deficiency
T-B+ Severe Combined Immunodeficiency, X-Linked
T-B+ Scid Due to Gamma Chain Deficiency
Gamma Chain Deficiency
Immunodeficiency 4
X-Linked Scid
Scid-X1
X-Scid
Scidx
Imd4
Severe Combined Immunodeficiency, X-Linked, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Severe Combined Immunodeficiency X-Linked T-Cell-Negative/b-Cell-Positive/nk-Cell-Negative
Severe Combined Immunodeficiency X-Linked T Cell-Negative/b Cell-Positive/nk Cell-Negative
Severe Combined Immunodeficiency X-Linked T-Cell Negative/b-Cell Positive/nk-Cell Negative
Severe Combined Immunodeficiency Due to Adenosine Deaminase Deficiency
Immunodeficiency, Severe Combined, X-Linked, Type 1
Agammaglobulinemia Swiss Type
Thymic Epithelial Hypoplasia
Il2rg Scid, T- B+ Nk-
Scid, X-Linked
Scid X-Linked
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Severe Combined Immunodeficiency, X-Linked, also known as x-linked severe combined immunodeficiency, is related to combined immunodeficiency, x-linked and severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency. An important gene associated with Severe Combined Immunodeficiency, X-Linked is IL2RG (Interleukin 2 Receptor Subunit Gamma), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. The drugs Busulfan and Mecasermin have been mentioned in the context of this disorder. Affiliated tissues include nk cells and t cells, and related phenotypes are lymphopenia and pneumonia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLD
Newborn
--
34
494
159

Medical Symptom

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Gene & Mutation

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References Literature

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