Klinische FragestellungEntzündliche Darmerkrankungen + infantile Enterokolitis, monogen; DD

NGS +

illness_ClinicalComment_EP3392

• Allelic: Diabetes mellitus, insulin-dependent, 12 (CTLA4)
• Allelic: Diabetes, mellitus, insulin-dependent, susceptibility to, 10 (IL2RA)
• Allelic: Dursun syndrome (G6PC3)
• Allelic: Dysmorphic features [panelapp] (ANO1)
• Allelic: Epidermolysis bullosa, pretibial (COL7A1)
• Allelic: Esophageal cancer, somatic (TGFBR2)
• Allelic: Familial cold autoinflammatory syndrome 3 (PLCG2)
• Allelic: Familial cold autoinflammatory syndrome 4 (NLRC4)
• 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: Incontinentia pigmenti (IKBKG)
• Allelic: Macrocephaly/autism syndrome (PTEN)
• Allelic: Meconium ileus (GUCY2C)
• Allelic: Meningioma (PTEN)
• Allelic: Mevalonic aciduria (MVK)
• Allelic: Monosomy 7 myelodysplasia + leukemia syndrome 2 (SAMD9)
• Allelic: Multiple myeloma, resistance to (LIG4)
• Allelic: Multiple self-healing squamous epithelioma, susceptibility to (TGFBR1)
• Allelic: Neutrophilic dermatosis, acute febrile (MEFV)
• Allelic: Omenn syndrome (DCLRE1C, RAG1, RAG2)
• Allelic: Porokeratosis 3, multiple types (MVK)
• Allelic: Prostate cancer, somatic (PTEN)
• Allelic: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 (RTEL1)
• Allelic: Rheumatoid arthritis, progression of (IL10)
• Allelic: SHORT syndrome (PIK3R1)
• Allelic: Systemic lupus erythematosus, susceptibility to (CTLA4)
• Allelic: Thrombocytopenia, XL (WAS)
• Allelic: Thrombocytopenia, XL, intermittent (WAS)
• Allelic: Toenail dystrophy, isolated (COL7A1)
• Allelic: Transient bullous of the newborn (COL7A1))
• Allelic: Tumoral calcinosis, familial, normophosphatemic (SAMD9)
• Adenosine deaminase deficiency, partial (ADA)
• Agammaglobulinemia 7, AR (PIK3R1)
• Agammaglobulinemia, XL 1 (BTK)
• Allelic: Polymicrogyria, perisylvian, with cerebellar hypoplasia + arthrogryposis (PI4KA)
• Allelic: Spastic paraplegia 84, AR (PI4KA)
• Alpha/beta T-cell lymphopenia, g/d T-cell exp., severe cytomegalov. infection, autoimmunity (RAG1)
• Autoimmune disease, multisystem, infantile-onset, 1 (STAT3)
• Autoimmune disease, multisystem, infantile-onset, 2 (ZAP70)
• Autoimmune lymphoproliferative syndrome, type V (CTLA4)
• Autoinflammation with infantile enterocolitis (NLRC4)
• Autoinflammation, antibody deficiency, immune dysregulation syndrome (PPLCG2)
• Autoinflammation, panniculitis + dermatosis syndrome (OTULIN)
• Celiac disease, susceptibility to, 3 (CTLA4)
• Chronic granulomatous disease 1, AR (NFC1)
• Chronic granulomatous disease 2, AR (NFC2)
• Chronic granulomatous disease 4, AR (CYBA)
• Chronic granulomatous disease 5, AR (CYBC1 syn. C17orf62)
• Chronic granulomatous disease, XL (CYBB)
• Colorectal cancer, hereditary nonpolyposis, type 6 (TGFBR2)
• Colorectal cancer, hereditary nonpolyposis, type 8 (EPCAM)
• 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)
• Dyskeratosis congenita, XL (DKC1)
• Ectodermal dysplasia + immunodeficiency 1 (IKBKG)
• Epidermolysis bullosa dystrophica inversa (COL7A1)
• Epidermolysis bullosa dystrophica, AD + AR (COL7A1)
• Epidermolysis bullosa dystrophica, Bart type (COL7A1)
• Epidermolysis bullosa dystrophica, localisata variant (COL7A1)
• Epidermolysis bullosa pruriginosa (COL7A1)
• Familial Mediterranean fever, AD + AR (MEFV)
• Gastrointestinal defects + immunodeficiency syndrome (TTC7A)
• Gastrointestinal defects + immunodeficiency syndrome 2 (PI4KA)
• Glycogen storage disease Ib + Ic (SLC37A4)
• Haemorrhagic diarrhoea [panelapp] (ANO1)
• Hemophagocytic lymphohistiocytosis, familial, 5 (STXBP2)
• Hermansky-Pudlak syndrome 1 (HPS1)
• Hermansky-Pudlak syndrome 4 (HPS4)
• Hermansky-Pudlak syndrome 6 (HPS6)
• Hyper-IgD syndrome (MVK)
• Hyper-IgE recurrent infection syndrom (STAT3)
• Hyper-IgE recurrent infection syndrome, AR (DOCK8)
• Immunodeficiency 14 (PIK3CD)
• Immunodeficiency 17, CD3 gamma deficient (CD3G)
• Immunodeficiency 31A, mycobacteriosis, AD (STAT1)
• Immunodeficiency 31B, mycobacterial + viral infections, AR (STAT1)
• Immunodeficiency 31C, chronic mucocutaneous candidiasis, AD (STAT1)
• Immunodeficiency 33 (IKBKG)
• Immunodeficiency 34, mycobacteriosis, XL (CYBB)
• Immunodeficiency 36 (PIK3R1)
• Immunodeficiency 41 with lymphoproliferation + autoimmunity (IL2RA)
• Immunodeficiency 48 (ZAP70)
• Immunodeficiency with hyper-IgM, type 2 (AICCDA)
• Immunodeficiency, XL, with hyper-IgM (CD40LG)
• Immunodeficiency, common variable, 1 (ICOS)
• Immunodeficiency, common variable, 11 (IL21)
• Immunodeficiency, common variable, 8, with autoimmunity (LSBA)
• Immunodysregulation, polyendocrinopathy + enteropathy, XL (FOXP3)
• Impaired intestinal peristalsis [panelapp] (ANO1)
• Inflammatory bowel disease 25, early onset, AR (IL10RB)
• Inflammatory bowel disease 28, early onset, AR (IL10RA)
• Inflammatory skin + bowel disease, neonatal, 1 (ADAM17)
• Isolated growth hormone deficiency, type III, with agammaglobulinemia (BTK)
• Kindler syndrome (FERMT1)
• LIG4 syndrome (LIG4)
• Leukocyte adhesion deficiency (ITGB2)
• Lhermitte-Duclos syndrome (PTEN)
• Loeys-Dietz syndrome 1 (TGFBR1)
• Loeys-Dietz syndrome 2 (TGFBR2)
• Lymphoproliferative syndrome, XL, 1 (Sh2D1A)
• Lymphoproliferative syndrome, XL, 2 (XIAP)
• MIRAGE syndrome (SAMD9)
• Neutropenia, severe congenital 4, AR (G6PC3)
• Neutropenia, severe congenital, XL (WAS)
• Niemann-Pick disease, type C1 + D (NPC1)
• Severe combined immunodeficiency due to ADA deficiency (ADA)
• Severe combined immunodeficiency, Athabascan type (DCLRE1C)
• Severe combined immunodeficiency, B cell-negative (RAG1, RAG2)
• Severe combined immunodeficiency, XL (IL2RG)
• Trichohepatoenteric syndrome 1 (TTC37)
• Trichohepatoenteric syndrome 2 (SKIV2L)
• Wiskott-Aldrich syndrome (WAS)