Autoimmune Hemolytic Anemia
Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome (ALPS) - This disease is characterized by defective activation induced cell death which leads to uncontrolled lymphoproliferation. Patients develop hepatosplenomegaly, adenopathy, and autoimmune cytopenias (autoimmune hemolytic anemia, idiopathic thrombocytopenic purpura, autoimmune neutropenia).
CVID - Approximately 25% of patients develop autoimmune disease. Autoimmune hemolytic anemia and ITP are the most frequently reported conditions. Patients with a low switched memory B cell population are at greater risk for developing autoimmune complications.
AID Deficiency
AID deficiency - Patients develop autoimmune manifestations at high frequency (approximately 25%). These include hemolytic anemia, thrombocytopenia, and autoimmune hepatitis.
IgA deficiency - Patients have an increased incidence of autoimmune disease including juvenile idiopathic arthritis, SLE, vitiligo, hemolytic anemia, ITP, and thyroiditis. Most patients with IgA deficiency do not have recurrent infections.
IPEX - Approximately 50% of patients develop autoimmune cytopenias including coombs positive hemolytic anemia, ITP and autoimmune neutropenia.
22q11.2 Deletion Syndrome - Patients have an increased risk for developing autoimmune disease including autoimmune hemolytic anemia and ITP.
Purine Nucleoside Phosphorylase (PNP) deficiency - Patients develop a number of autoimmune manifestations including hemolytic anemia, ITP, and autoimmune neutropenia. Less common manifestations include SLE and CNS vasculitis.
MHC Class II Deficiency - Patients have been reported to develop autoimmune hemolytic anemia or autoimmune neutropenia (10% of patients).
Wiskott-Aldrich syndrome - Autoimmune disorders have been reported in 40% of patients. These include hemolytic anemia, autoimmune neutropenia, skin and cerebral vasculitis, arthritis, renal disease, and Henoch-Shonlein purpura. Decreased T regulatory cell function is the proposed mechanism for this disease manifestation.
Cernunnos deficiency - Two patients with autoimmune hemolytic anemia and ITP have been reported.
Cartilage Hair Hypoplasia - Patients can develop autoimmune manifestations such as hemolytic anemia, ITP, juvenile idiopathic arthritis, and autoimmune enteropathy.
Kabuki syndrome - Patients with autoimmune hemolytic anemia and ITP have been reported.
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.