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).
MONDO:0018814
non-SCID combined immunodeficiency
excluded_subClassOf
MONDO:0015131
combined immunodeficiency
is_a
CID due to STK4 deficiency
exact
MST1 deficiency
exact
STK4 deficiency
exact
T-cell immunodeficiency, recurrent infections, and autoimmunity with or without CARDIAC malformations
related
T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations
exact
TIIAC
exact