Hemolytic Anemia
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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).
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CVID - Approximately 25% of patients develop autoimmune disease. Autoimmune hemolytic anemia and ITP are the most frequently reported conditions.
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AID deficiency - Patients develop autoimmune manifestations at high frequency (approximately 25%). These include hemolytic anemia, thrombocytopenia, and autoimmune hepatitis.
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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.
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IPEX - Approximately one-half of patients with this syndrome develop autoimmune cytopenias including coombs positive hemolytic anemia, ITP, and autoimmune neutropenia.
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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-Schonlein purpura.
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MHC Class II Deficiency - Autoimmune cytopenias (hemolytic anemia, neutropenia) have been described in 10% of patients.
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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.
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Kabuki syndrome - Autoimmune hemolytic anemia and ITP have been reported in this disease.
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Cartilage Hair Hypoplasia - Patients can develop autoimmune manifestations such as hemolytic anemia, ITP, juvenile idiopathic arthritis, and autoimmune enteropathy.
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Cernunnos deficiency - Two patients with autoimmune hemolytic anemia and ITP have been reported.
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G6PD Deficiency
Glucose-6-phosphate-dehydrogenase (G-6PD) deficiency - Patients develop hemolytic anemia. Decreased G-6PD function leads to a reduction in NADPH (which protects erythrocytes from oxidative stress). If the G-6PD activity is below 5%, the oxidative burst of phagocytes is also severely impaired (NBT test and dihydrodhodamine assay will be abnormal) and patients develop CGD-like infections.
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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.
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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.
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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).
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STAT3 Gain of Function - patients develop multi-organ autoimmune manifestations including autoimmune enteropathy autoimmune cytopenia, type I diabetes, and interstitial lung disease.