Autoimmune Neutropenia
CVID - Approximately 25% of patients develop autoimmune disease. Autoimmune hemolytic anemia and ITP are the most frequently reported conditions. However, autoimmune neutropenia has also been reported.
IPEX - Approximately 50% of patients with this syndrome develop autoimmune cytopenias including autoimmune neutropenia, ITP, coombs positive hemolytic anemia.
MHC Class II deficiency - Patients have been reported to develop autoimmune neutropenia or hemolytic anemia (10% of patients).
Purine Nucleoside Phosphorylase (PNP) deficiency - Patients develop a number of autoimmune manifestations including autoimmune neutropenia, hemolytic anemia, and ITP. Less common manifestations include SLE and CNS vasculitis.
Wiskott-Aldrich syndrome - Autoimmune disorders have been reported in 40% of patients. These include autoimmune neutropenia, hemolytic anemia, skin and cerebral vasculitis, arthritis, renal disease, and Henoch-Shonlein purpura. Decreased T regulatory cell function is the proposed mechanism for this disease manifestation.
CTLA4 Deficiency - patients develop multi-organ autoimmune manifestations including inflammatory bowel disease,autoimmune cytopenia, psoriasis, and thyroid disease. Patients also develop splenomegaly, hepatomegaly, bronchiectasis, GLILD, and generalized lymphadenopathy.
LRBA Deficiency - patients develop multi-organ autoimmune manifestations including inflammatory bowel disease,autoimmune cytopenia, psoriasis, and thyroid disease. Patients also develop splenomegaly, hepatomegaly, bronchiectasis, GLILD, and generalized lymphadenopathy.
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).
STAT3 Gain of Function - patients develop multi-organ autoimmune manifestations including autoimmune enteropathy autoimmune cytopenia, type I diabetes, and interstitial lung disease.