Immunodeficiency 38 with Basal Ganglia Calcification (IMD38)

Alias:

Mendelian Susceptibility to Mycobacterial Diseases Due to Complete Isg15 Deficiency

Immunodeficiency 38, Mycobacteriosis, Autosomal Recessive

Immunodeficiency 38

Imd38

Immunodeficiency 38, with Basal Ganglia Calcification

Isg15 Deficiency, Autosomal Recessive

Msmd Due to Complete Isg15 Deficiency

Autosomal Recessive Isg15 Deficiency

Immunodeficiency, Type 38

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Immunodeficiency 38 with Basal Ganglia Calcification, also known as mendelian susceptibility to mycobacterial diseases due to complete isg15 deficiency, is related to systemic lupus erythematosus and myositis. An important gene associated with Immunodeficiency 38 with Basal Ganglia Calcification is ISG15 (ISG15 Ubiquitin Like Modifier), and among its related pathways/superpathways is Pathways of nucleic acid metabolism and innate immune sensing. Affiliated tissues include bone and skin, and related phenotypes are seizure and lymphadenopathy

Related ID：

MALACARDS：IMM187

OMIM：616126

MESH：D007153