Klinische FragestellungAutoimmun-hämolytische Anämie; Differentialdiagnose

AP5611_DH

illness_ClinicalComment_AP5611

• Alias: Autoimmune haemolytic anaemia, AIHA
• Allelic: Celiac disease, susceptibility to, 3 (CTLA4)
• Allelic: Diabetes mellitus, insulin-dependent, 12 (CTLA4)
• Allelic: Dyschromatosis symmetrica hereditaria (ADAR)
• Allelic: Dystonia 9 (SLC2A1)
• Allelic: Epilepsy, idiopathic generalized, susceptibility to, 12 (SLC2A1)
• Allelic: Hashimoto thyroiditis (CTLA4)
• Allelic: Juvenile myelomonocytic leukemia (CBL)
• Allelic: Lung cancer, susceptibility to (FASLG)
• Allelic: Myocardial infarction, susceptibility to (GCLC)
• Allelic: Neurodevelopmental disorder with visual defects + brain anomalies (HK1)
• Allelic: Neuropathy, hereditary motor + sensory, Russe type (HK1)
• Allelic: Polymicrogyria [MONDO:0000087, panelapp] (ENO1)
• Allelic: Resistance to malaria due to G6PD deficiency (G6PD)
• Allelic: Retinitis pigmentosa 79 (HK1)
• Allelic: Stomatin-deficient cryohydrocytosis with neurologic defects (SLC2A1)
• Allelic: Systemic lupus erythematosus, susceptibility to (CTLA4)
• Allelic: Wiskott-Aldrich syndrome (WAS)
• Adenosine triphosphate, elevated, of erythrocytes (PKLR)
• Aicardi-Goutieres syndrome 6 (ADAR)
• Anemia, hemolytic, Rh-null, regulator type (RHAG)
• Anemia, hemolytic, due to UMPH1 deficiency (NT5C3A)
• Autoimmune lymphoproliferative syndrome (FAS)
• Autoimmune lymphoproliferative syndrome, type IA (FAS)
• Autoimmune lymphoproliferative syndrome, type IB (FASLG)
• Autoimmune lymphoproliferative syndrome, type II (CASP10)
• Cardiofaciocutaneous syndrome 2 (KRAS)
• Combined cellular and humoral immune defects with granulomas (RAG1)
• Cytopenias and congenital anaemias (ENO1)
• Enolase alpha deficiency (ENO1)
• Erythrocytosis, familial, 8 (BPGM)
• GLUT1 deficiency syndrome 1, infantile onset, severe (SLC2A1)
• GLUT1 deficiency syndrome 2, childhood onset (SLC2A1)
• Glutathione synthetase deficiency (GSS)
• Hemolytic anemia due to adenylate kinase deficiency (AK1)
• Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (GCLC)
• Hemolytic anemia due to glutathione peroxidase deficiency (GPX1)
• Hemolytic anemia due to glutathione reductase deficiency (GSR)
• Hemolytic anemia due to glutathione synthetase deficiency (GSS)
• Hemolytic anemia due to hexokinase deficiency (HK1)
• Hemolytic anemia due to triosephosphate isomerase deficiency (TPI1)
• Hemolytic anemia, G6PD deficient, favism (G6PD)
• Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency (GPI)
• Immune dysregulation with autoimmunity, immunodeficiency, lymphoproliferation (CTLA4)
• Immunodeficiency 14A, AD (PIK3CD)
• Immunodeficiency 14B, AR (PIK3CD)
• Immunodeficiency, XL, with hyper-IgM (CD40LG)
• Immunodeficiency, common variable, 8, with autoimmunity (LRBA)
• Immunodysregulation, polyendocrinopathy + enteropathy, XL (FOXP3)
• Neutropenia, severe congenital, XL (WAS)
• Noonan syndrome 3 (KRAS)
• Noonan syndrome-like disorder +/- juvenile myelomonocytic leukemia (CBL)
• Omenn syndrome (RAG1)
• Overhydrated hereditary stomatocytosis (RHAG)
• Phosphoglycerate kinase 1 deficiency (PGK1)
• Pyruvate kinase deficiency (PKLR)
• RAS-associated autoimmune leukoproliferative disorder (KRAS)
• Roifman-Chitayat syndrome, digenic (PIK3CD)
• Severe combined immunodeficiency, B cell-negative (RAG1)
• Thrombocytopenia, XL (WAS)
• Thrombocytopenia, XL, intermittent (WAS)
• a/b T-cell lymphopenia with g/d T-cell expansion, severe CMV infection/autoimmunity (RAG1)