Combined immunodeficiency due to STK4 deficiency

A rare, genetic combined T and B cell immunodeficiency characterized by T- and B-cell lymphopenia, hypergammaglobulinemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicemia. Other clinical features include autoimmune manifestations (autoimmune hemolytic anemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, triscupid and pulmonary valve insufficiency).

Also known as: CID due to STK4 deficiency, MST1 deficiency, STK4 deficiency, T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations, TIIAC, T-cell immunodeficiency, recurrent infections, and autoimmunity with or without CARDIAC malformations

1 clinical trial for this condition and its sub-types, 0 tagged with Combined immunodeficiency due to STK4 deficiency itself.