Klinische FragestellungGastroenterologische epitheliale Barriere-Störungen

NGS +

• Allelic: Autoimmune lymphoproliferative syndrome, type V (CTLA4)
• Allelic: Central hypoventilation syndrome, congenital (RET)
• Allelic: Colorectal cancer, hereditary nonpolyposis, type 8 (EPCAM)
• Allelic: Diabetes mellitus, insulin-dependent, 12 (CTLA4)
• Allelic: Diabetes, mellitus, insulin-dependent, susceptibility to, 10 (IL2RA)
• Allelic: Epidermolysis bullosa pruriginosa (COL7A1)
• Allelic: Epidermolysis bullosa, pretibial (COL7A1)
• Allelic: Glioma susceptibility 2 (PTEN)
• Allelic: Graft-versus-host disease, protection against (IL10)
• Allelic: HIV-1, susceptibility to (IL10)
• Allelic: Hashimoto thyroiditis (CTLA4)
• Allelic: Hepatitis B virus, susceptibility to (IL10RB)
• Allelic: Macrocephaly/autism syndrome (PTEN)
• Allelic: Medullary thyroid carcinoma (RET)
• Allelic: Meningioma (PTEN)
• Allelic: Monosomy 7 myelodysplasia + leukemia syndrome 2 (SAMD9)
• Allelic: Multiple endocrine neoplasia IIA (RET)
• Allelic: Multiple endocrine neoplasia IIB (RET)
• Allelic: Multiple myeloma, resistance to (LIG4)
• Allelic: Neutrophilic dermatosis, acute febrile (MEFV)
• Allelic: Pheochromocytoma (RET)
• Allelic: Porokeratosis 3, multiple types (MVK)
• Allelic: Prostate cancer, somatic (PTEN)
• Allelic: Rheumatoid arthritis, progression of (IL10)
• Allelic: Severe combined immunodeficiency due to ADA deficiency (ADA)
• Allelic: Thrombocytopenia, XL (WAS)
• Allelic: Thrombocytopenia, XL, intermittent (WAS)
• Allelic: Toenail dystrophy, isolated (COL7A1)
• Allelic: Transient bullous of the newborn (COL7A1)
• Adenosine deaminase deficiency, partial (ADA)
• Allelic: Tumoral calcinosis, familial, normophosphatemic (SAMD9)
• Alpha/beta T-cell lymphopenia, g/d T-cell expansion, severe cytomegalov. inf. + autoimmunity (RAG1)
• Autoimmune disease, multisystem, infantile-onset, 1 (STAT3(
• Autoimmune disease, multisystem, infantile-onset, 2 (ZAP70)
• Autoinflammation, antibody deficiency + immune dysregulation syndrome (PLCG2)
• Autoinflammation, panniculitis + dermatosis syndrome (OTULIN)
• Blau syndrome (NOD2)
• Celiac disease, susceptibility to, 3 (CTLA4)
• Chronic granulomatous disease 1, AR (NCF1)
• Chronic granulomatous disease 2, AR (NCF2)
• Chronic granulomatous disease 3, AR (NCF4)
• Chronic granulomatous disease 4, AR (CYBA)
• Chronic granulomatous disease, XL (CYBB)
• Combined cellular + humoral immune defects with granulomas (RAG1, RAG2)
• Combined immunodeficiency, XL, moderate (IL2RG)
• Cowden syndrome 1 (PTEN)
• Diarrhea 5, with tufting enteropathy, congenital (EPCAM)
• Diarrhea 6 (GUCY2C)
• Dyskeratosis congenita, AD 4 (RTEL1)
• Dyskeratosis congenita, AR 5 (RTEL1)
• Ectodermal dysplasia + immunodeficiency 1 (IKBKG)
• Epidermolysis bullosa dystrophica inversa (COL7A1)
• Epidermolysis bullosa dystrophica, AD (COL7A1)
• Epidermolysis bullosa dystrophica, AR (COL7A1)
• Epidermolysis bullosa dystrophica, Bart type (COl7A1)
• Epidermolysis bullosa dystrophica, localisata variant (COL7A1)
• Familial Mediterranean fever, AD (MEFV)
• Familial Mediterranean fever, AR (MEFV)
• Familial cold autoinflammatory syndrome 3 (PLCG2)
• Gastrointestinal defects and immunodeficiency syndrome (TTC7A)
• Glycogen storage disease IB + Ic (SLC37A4)
• Hemophagocytic lymphohistiocytosis, familial, 5 (STXBP2)
• Hermansky-Pudlak syndrome 1 (HPS1)
• Hermansky-Pudlak syndrome 4 (HPS4)
• Hermansky-Pudlak syndrome 6 (HPS6)
• Hirschsprung disease, protection against (RET)
• Hirschsprung disease, susceptibility to, 1 (RET)
• Hyper-IgD syndrome (MVK)
• Hyper-IgE recurrent infection syndrome (STAT3)
• Hyper-IgE recurrent infection syndrome, AR (DOCK8)
• Immunodeficiency 14 (PIK3CD)
• Immunodeficiency 31A, mycobacteriosis, AD (STAT1)
• Immunodeficiency 31B, mycobacterial and viral infections, AR (STAT1)
• Immunodeficiency 31C, chronic mucocutaneous candidiasis, AD (STAT1)
• Immunodeficiency 33 (IKBKG)
• Immunodeficiency 34, mycobacteriosis, XL (CYBB)
• Immunodeficiency 41 with lymphoproliferation + autoimmunity (IL2RA)
• Immunodeficiency 48 (ZAP70)
• Immunodeficiency, XL, with hyper-IgM (CD40LG)
• Immunodeficiency, common variable, 1 (ICOS)
• Immunodeficiency, common variable, 8, with autoimmunity (LRBA)
• Immunodysregulation, polyendocrinopathy + enteropathy, XL (FOXP3)
• Incontinentia pigmenti (IKBKG)
• Inflammatory bowel disease 1, Crohn disease (NOD2)
• Inflammatory bowel disease 25, early onset, AR (IL10RB)
• Inflammatory bowel disease 28, early onset, AR (IL10RA)
• Inflammatory skin + bowel disease, neonatal, 1 (ADAM17)
• Intestinal dysmotility syndrome (ANO1)
• Kindler syndrome (FERMT1)
• LIG4 syndrome (LIG4)
• Leukocyte adhesion deficiency (ITGB2)
• Lhermitte-Duclos syndrome (PTEN)
• Lymphoproliferative syndrome, XL, 1 (SH2D1A)
• Lymphoproliferative syndrome, XL, 2 (XIAP)
• MIRAGE syndrome (SAMD9)
• Meconium ileus (GUCY2C)
• Mevalonic aciduria (MVK)
• Microvillus inclusion disease (MYO5B)
• Neutropenia, severe congenital, X (WAS)
• Omenn syndrome (DCLRE1C, RAG1, RAG2)
• Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 (RTEL1)
• Severe combined immunodeficiency, Athabascan type (DCLRE1C)
• Severe combined immunodeficiency, B cell-negative (RAG1, RAG2)
• Severe combined immunodeficiency, XL (IL2RG)
• Systemic lupus erythematosus, susceptibility to (CTLA4)
• Trichohepatoenteric syndrome 1 (TTC37)
• Trichohepatoenteric syndrome 2 (SKIC2L)
• Wiskott-Aldrich syndrome (WAS)
• Yao syndrome (NOD2)