Klinische FragestellungIPEX-Syndrom, Differentialdiagnose

NGS +

Das IPEX-Syndrom („Immune dysregulation, polyendocrinopathy, enteropathy, X-linked“) betrifft vor allem das männliche Geschlecht und wird durch Fehlfunktionen des Immunsystems verursacht, die Gewebe und Organe des eigenen Organismus angreifen. Das IPEX-Syndrom ist durch die Entwicklung mehrerer Autoimmun-Erkrankungen bei den betroffenen Personen gekennzeichnet, insbesondere durch eine Autoimmun-Enteropathie mit schwerem Durchfall als erstem Symptom, Dermatitis und Polyendokrinopathie (Diabetes mellitus Typ 1, Hyperthyreose, Anämie, Thrombozytopenie oder Neutropenie). Das IPEX-Syndrom kann in der frühen Kindheit lebensbedrohlich sein. Mutationen im FOXP3-Gen verursachen dieses Syndrom. Das kodierte Protein ist für die Produktion und normale Funktion von regulatorischen T-Lymphozyten unerlässlich. IPEX-Syndrom wird X-chromosomal-rezessiv vererbt. Bezüglich der engeren Differentialdiagnose werden mindestens 9 weitere Leitlinien-kuratierte IPEX-ähnliche Syndrome überwiegend autosomal rezessiv, selten auch autosomal dominant oder X-gebunden vererbt. Insgesamt kommen differentialdiagnostisch >30 Gene in Betracht. Aufgrund seines seltenen Auftretens ist der molekulargenetische diagnostische Ertrag des IPEX-Syndroms derzeit noch unbekannt. Daher schließt ein negatives DNA-Testergebnis die klinische Diagnose keineswegs aus.

Referenz: https://www.ncbi.nlm.nih.gov/books/NBK1118/

• Alias: Immune dysregulation, Polyendocrinopathy, Enteropathy, XL, IPEX syndrome
• Alias: Autoimmune enteropathy type 1
• Alias: Autoimmunity-immunodeficiency syndrome, XL
• Alias: Diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea
• Alias: Diarrhea, polyendocinopathy, fatal infection syndrome, XL
• Alias: Enteropathy, autoimmune, with hemolytiv anemia + polyendocrinopathy
• Alias: IDDM-secretory diarrhea syndrome
• Alias: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
• Alias: Polyendocrinopathy, immune dysfunction + diarrhea, XL; XPID
• Alias: XL autoimmunity-allergic dysregulation syndrome
• Allelic: Atrial septal defect 9 (GATA6)
• Allelic: Atrioventricular septal defect 5 (GATA6)
• Allelic: Blood group, Rodgers (C4A)
• Allelic: C1r/C1s deficiency, combined, Lupus [panelapp] (C1R/C1S)
• Allelic: Celiac disease, susceptibility to, 3 (CTLA4)
• Allelic: Colorectal cancer, hereditary nonpolyposis, type 8 (EPCAM)
• Allelic: Diabetes mellitus, insulin-dependent, 12 (CTLA4)
• Allelic: Diabetes mellitus, noninsulin-dependent, late onset (GCK)
• Allelic: Diabetes mellitus, transient neonatal 2 (ABCC8)
• Allelic: Diabetes mellitus, transient neonatal 3 (KCNJ11)
• Allelic: Diabetes mellitus, type 2, susceptibility to (KCNJ11)
• Allelic: Diabetes mellitus, type II, susceptibility to (PDX1)
• Allelic: Diabetes, mellitus, insulin-dependent, susceptibility to, 10 (IL2RA)
• Allelic: Ehlers-Danlos syndrome, periodontal type, 1 (C1R)
• Allelic: Ehlers-Danlos syndrome, periodontal type, 2 (C1S)
• Allelic: Hashimoto thyroiditis (CTLA4)
• Allelic: Hepatitis B virus, susceptibility to (IL10RB)
• Allelic: Immunodeficiency due to C1, C4 or C2 component complement deficiency
• Allelic: Immunodeficiency due to an early component of complement deficiency
• Allelic: Lung cancer, susceptibility to FASLG)
• Allelic: MODY, type II (GCK)
• Allelic: MODY, type IV (PDX1)
• Allelic: Macular degeneration, age-related, 14, reduced risk of (C2)
• Allelic: Maturity-onset diabetes of the young, type 10 (INS)
• Allelic: Maturity-onset diabetes of the young, type 13 (KCNJ11)
• Allelic: Persistent truncus arteriosus (GATA6)
• Allelic: SLE, infections with encapsulated organisms [panelapp] (C1R)
• Allelic: Systemic lupus erythematosus, susceptibility to (CTLA4)
• Allelic: Tetralogy of Fallot (GATA6)
• Autoimmune disease, multisystem, infantile-onset, 1 (STAT3)
• Autoimmune disease, multisystem, with facial dysmorphism (ITCH)
• Autoimmune lymphoproliferative syndrome, type IA (FAS)
• Autoimmune lymphoproliferative syndrome, type IB (FASLG)
• Autoimmune lymphoproliferative syndrome, type II (CASP10)
• Autoimmune polyendocrinopathy syndrome , type I, with/-out reversible metaphyseal dysplasia (AIRE)
• C1q deficiency (C1QA)
• C1q deficiency (C1QB)
• C1q deficiency (C1QC)
• C1s deficiency (C1S)
• C2 deficiency (C2)
• C4B deficiency (C4B)
• C4a deficiency (C4A)
• Combined cellular + humoral immune defects with granulomas (RAG1, RAG2)
• Complement component 1 deficiency [panelapp] (C1R)
• Diabetes mellitus, insulin-dependent, 2 (INS)
• Diabetes mellitus, noninsulin-dependent (ABCC8)
• Diabetes mellitus, permanent neonatal 1 (GCK)
• Diabetes mellitus, permanent neonatal 3, with/-out neurologic features (ABCC8)
• Diabetes mellitus, permanent neonatal 4 (INS)
• Diabetes, permanent neonatal 2, with/-out neurologic features (KCNJ11)
• Diarrhea 2, with microvillus atrophy (MYO5B)
• Diarrhea 5, with tufting enteropathy, congenital (EPCAM)
• Gastrointestinal defects + immunodeficiency syndrome (TTC7A)
• Growth hormone insensitivity with immune dysregulation 1, AR (STAT5B)
• Growth hormone insensitivity with immune dysregulation 2, AD (STAT5B)
• Hyper-IgE recurrent infection syndrome (STAT3)
• Hyper-IgE recurrent infection syndrome, AR (DOCK8)
• Hyperinsulinemic hypoglycemia, familial, 1 (ABCC8)
• Hyperinsulinemic hypoglycemia, familial, 2 (KCNJ11)
• Hyperinsulinemic hypoglycemia, familial, 3 (GCK)
• Hyperproinsulinemia (INS)
• Hypoglycemia of infancy, leucine-sensitive (ABCC8)
• IDDM-Secretory diarrhea syndrome; DMSD
• Immune dysregulation with autoimmunity, immunodeficiency + lymphoproliferation (CTLA4)
• Immune dysregulation-polyendocrinopathy-enteropathy-XL syndrome (FOXP3)
• Immunodeficiency 12 (MALT1)
• Immunodeficiency 31A, mycobacteriosis, AD (STAT1)
• Immunodeficiency 31B, mycobacterial + viral infections, AR (STAT1)
• Immunodeficiency 31C, chronic mucocutaneous candidiasis, AD (STAT1)
• Immunodeficiency 41 with lymphoproliferation + autoimmunity (IL2RA)
• Immunodeficiency 60 (BACH2)
• Immunodeficiency, common variable, 8, with autoimmunity (LRBA)
• Immunodysregulation, polyendocrinopathy, enteropathy, XL (FOXP3)
• Inflammatory bowel disease 25, early onset, (IL10RB)
• Inflammatory bowel disease 28, early onset, AR (IL10RA)
• Neutropenia, severe congenital, XL (WAS)
• Omenn syndrome (DCLRE1C, RAG1, RAG2)
• Pancreatic + cerebellar agenesis (PTF1A)
• Pancreatic agenesis + congenital heart defects (GATA6)
• Pancreatic agenesis 1 (PDX1)
• Pancreatic agenesis 2 (PTF1A)
• Severe combined immunodeficiency, Athabascan type (DCLRE1C)
• Severe combined immunodeficiency, B cell-negative (RAG1, RAG2)
• Thrombocytopenia, XL (WAS)
• Thrombocytopenia, XL, intermittent (WAS)
• Trichohepatoenteric syndrome 1 (TTC37)
• Trichohepatoenteric syndrome 2 (SKIV2L)
• Wiskott-Aldrich syndrome (WAS)
• a/b T-cell lymphopenia + g/d T-cell expansion, severe cytomegalovirus infection, autoimmunity (RAG1)