Immunodeficiency 58 (IMD58)

Immunodeficiency 58, also known as severe combined immunodeficiency due to carmil2 deficiency, is related to combined immunodeficiency and cutaneous candidiasis. An important gene associated with Immunodeficiency 58 is CARMIL2 (Capping Protein Regulator And Myosin 1 Linker 2), and among its related pathways/superpathways are NF-kappaB Signaling and Thyroxine (thyroid hormone) production. Affiliated tissues include t cells and smooth muscle, and related phenotypes are failure to thrive and recurrent cutaneous abscess formation