immunodeficiency 97

info · Immune

A T cell and NK cell immunodeficiency that is characterized by variable features and and that has_material_basis_in compound heterozygous mutation in the PIK3CG gene on chromosome 7q22.

Signs and symptoms

Foam cells
Enterocolitis
Colitis
Hypotonia
Autoimmune hemolytic anemia
Mediastinal lymphadenopathy
Hemophagocytosis
Autoimmune neutropenia
Decreased total lymphocyte count
Increased circulating lactate dehydrogenase concentration

Also known as: immunodeficiency 97 with autoinflammation