Klinische FragestellungEntzündliche Darmerkrankungen + infantile Enterokolitis, monogen; DD

NGS +

Die infantile Enterokolitis und die monogenen entzündlichen Darmerkrankungen umfassen chronisch entzündliche Darmerkrankungen und entzündliche Darmerkrankungen wie Darmentzündungen. Der Krankheitsbeginn der Darmentzündung liegt bei weniger als 2 Jahren. Die Histologie bestätigt die Darmentzündung bei der ersten Endoskopie im Alter von weniger als 2,5 Jahren. Es handelt sich um eine recht große und extrem heterogene Gruppe auf der Grundlage der oben genannten Kriterien. Es werden alle Mendelnden Vererbungsmuster beobachtet. Da die molekulargenetische Ausbeute für diese Gruppe von Störungen im Wesentlichen nicht bekannt ist, schließt ein negatives DNA-Testergebnis die klinische Diagnose keineswegs aus.

Referenz: -

• 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)