Immunodeficiency 31a (IMD31A)

Alias:

Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Stat1 Deficiency

Imd31a

Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Signal Transducer and Activator of Transcription 1 Deficiency

Msmd Due to Partial Signal Transducer and Activator of Transcription 1 Deficiency

Immunodeficiency 31a, Mycobacteriosis, Autosomal Dominant

Stat1 Deficiency, Autosomal Dominant

Msmd Due to Partial Stat1 Deficiency

Immunodeficiency, Type 31a, Mycobacteriosis, Autosomal Dominant

Autosomal Dominant Immunodeficiency 31a, Mycobacteriosis

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Immunodeficiency 31a, also known as mendelian susceptibility to mycobacterial diseases due to partial stat1 deficiency, is related to autoimmune lymphoproliferative syndrome and aicardi-goutieres syndrome. An important gene associated with Immunodeficiency 31a is STAT1 (Signal Transducer And Activator Of Transcription 1). Affiliated tissues include lung, and related phenotypes are recurrent viral infections and bcgitis

Related ID：

MALACARDS：IMM182

OMIM：614892

MESH：D007153