Immunodeficiency 12 (IMD12)

Alias:

Combined Immunodeficiency Due to Malt1 Deficiency

Imd12

Immunodeficiency, Type 12

Favorite

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Immunodeficiency 12, also known as combined immunodeficiency due to malt1 deficiency, is related to immunodeficiency, common variable, 12, with autoimmunity and panniculitis. An important gene associated with Immunodeficiency 12 is MALT1 (MALT1 Paracaspase), and among its related pathways/superpathways are Beta-Adrenergic Signaling and Signaling by WNT. Affiliated tissues include t cells and skin, and related phenotypes are delayed skeletal maturation and short stature

Related ID：

MALACARDS：IMM071

OMIM：615468

MESH：D007153