Immunodeficiency Search

PIK3CD GAIN OF FUNCTION

CVID

CVID - Patients are at risk for developing a number of GI tract pathologies including lymphoid nodular hyperplasia and inflammatory bowel disease. An enteropathy with villous blunting (resembling celiac disease) may be present but does not respond to dietary gluten removal. The risk of developing GI tract malignancies (lymphoma, adenocarcinoma) is increased 50 fold.y.

CVID

IPEX

Chronic Granulomatous Disease

Leukocyte Adhesion Deficiency

Chromosome 22q11.2 Deletion

Wiskott-Aldrich Syndrome

CVID

X-Linked Hyper IgM

NEMO Deficiency

AID Deficiency

Cartilage Hair Hypoplasia

IPEX

Chronic Granulomatous Disease

Leukocyte Adhesion Deficiency

CVID

Wiskott-Aldrich Syndrome

X-Linked Hyper IgM

NEMO Deficiency

AID Deficiency

Cartilage Hair Hypoplasia

Hermansky Pudlak Syndrome

XIAP Deficiency

IL-10 and IL-10 Receptor Deficiency

STAT3 Gain of Function

CTLA4 Deficiency

LRBA Deficiency

PIK3CD Gain of Function

PIK3CD Gain of Function - patients develop autoimmune manifestations including inflammatory bowel disease, autoimmune cytopenia, and autoimmune primary sclerosing cholangitis. Patients may also develop EBV/CMV induced lymphoproliferation, hepatosplenomegaly and malignancy (lymphoma).