Autoimmune Thrombocytopenia
Wiskott-Aldrich syndrome - Patients develop non-autoimmune thrombocytopenia which is often present at birth. Patients commonly present with bloody diarrhea, bruising, petechiae, purpura, and bleeding from the circumcision site. Splenectomy can often improve thrombocytopenia in patients but this greatly increases the risk of future sepsis from encapsulated bacteria. However, patients can also develop autoimmune thrombocytopenia (which is not responsive to splenectomy).
Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome (ALPS) - This disease is characterized by defective activation induced cell death that 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. ITP precedes the diagnosis of CVID in approximately 10% of patients.
IPEX - Approximately 50% of patients with this syndrome develop autoimmune cytopenias including ITP, coombs positive hemolytic anemia, and autoimmune neutropenia.
22q11.2 Deletion Syndrome - Patients have an increased risk for developing autoimmune disease including ITP and autoimmune hemolytic anemia.
Chronic granulomatous disease - Patients with ITP have been reported. Other autoimmune manifestations include SLE, colitis, and chorioretinitis.
AID Deficiency
AID deficiency - Patients develop autoimmune manifestations at high frequency (approximately 25%). These include ITP, hemolytic anemia, and autoimmune hepatitis.
Cartilage Hair Hypoplasia - Patients can develop autoimmune manifestations such as ITP, hemolytic anemia, juvenile idiopathic arthritis, and autoimmune enteropathy.
Kabuki syndrome - Patients with ITP and autoimmune hemolytic anemia have been reported.
Purine Nucleoside Phosphorylase (PNP) deficiency - Patients develop a number of autoimmune manifestations including ITP, hemolytic anemia, and autoimmune neutropenia. Less common manifestations include SLE and CNS vasculitis.
Cernunnos deficiency - Two patients with 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.