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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessIPEX syndrome, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for IPEX syndrome, differential diagnosis comprising 10 guideline-curated or altogether 33 curated genes according to the clinical signs

ID
IP0511
Number of genes
33 Accredited laboratory test
Examined sequence length
22,7 kb (Core-/Core-canditate-Genes)
76,9 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
AIRE1638AD, AR
CTLA4525AD
DCLRE1C2079AR
DOCK86300AR
FOXP31296XLR
RAG13132AR
RAG21584AR
STAT12253AD
STAT32313AD
WAS1509XLR
ABCC84746AD, AR
BACH22542AD
CASP101368AD
EPCAM945AR
FAS1008AD
FASLG846AD
GATA61788AD
GCK1398AD, AR
IL10RA1737AR
IL10RB978AR
IL2RA819AR
INS333AD, AR
ITCH2712AR
KCNJ111173AD
LRBA8556AR
MALT12475AR
MYO5B5547AR
PDX1852AR
PTF1A987AR
SKIC23741AR
SKIC34695AR
STAT5B2364AR
TTC7A2577AR

Informations about the disease

Clinical Comment

IPEX syndrome (Immune dysregulation, Polyendocrinopathy, Enteropathy, X-linked) mainly affects males. It is caused by dysfunctions of the immune system via attacking tissues and organs of the own organism. IPEX syndrome is characterized by the development of multiple autoimmune disorders in affected individuals, particularly autoimmune enteropathy with severe diarrhea as the first symptom, dermatitis and polyendocrinopathy (type 1 diabetes mellitus, hyperthyroidism, anemia, thrombocytopenia or neutropenia). IPEX syndrome can be life-threatening in early childhood. Mutations in the FOXP3 gene cause this syndrome. The encoded protein is essential for the production and normal function of regulatory T lymphocytes. IPEX syndrome is inherited in an X-linked recessive manner. Regarding the narrower differential diagnosis, at least 9 other guideline-curated IPEX-like syndromes are inherited predominantly in an autosomal recessive manner or rarely in an autosomal dominant or X-linked manner. In total, >30 genes are considered for differential diagnostic purposes. Due to its rare occurrence, the molecular genetic diagnostic yield of IPEX syndrome is currently unknown. Therefore, a negative DNA test result by no means excludes the clinical diagnosis.

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

 

Synonyms
  • 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: 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: Hashimoto thyroiditis (CTLA4)
  • Allelic: Hepatitis B virus, susceptibility to (IL10RB)
  • Allelic: Lung cancer, susceptibility to FASLG)
  • Allelic: MODY, type II (GCK)
  • Allelic: MODY, type IV (PDX1)
  • 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: 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)
  • Combined cellular + humoral immune defects with granulomas (RAG1, RAG2)
  • 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)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
E31.0

Bioinformatics and clinical interpretation

No text defined