NEONATAL DIABETES MELLITUS, ENTEROPATHY, THROMBOCYTOPENIA AND ENDOCRINOPATHY (IPEX)

Question 1

What is  NEONATAL DIABETES MELLITUS, ENTEROPATHY, THROMBOCYTOPENIA AND ENDOCRINOPATHY (IPEX)?

Accepted Answer

rare
X-linked recessive
mutation in the FOXP3 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

X-chromosomales Syndrom mit Immundysregulation, Polyendokrinopathie und Enteropathie

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 304790

Question 4

Which enzymes are involved?

Accepted Answer

Forkhead box protein P3

Disease	NEONATAL DIABETES MELLITUS, ENTEROPATHY, THROMBOCYTOPENIA AND ENDOCRINOPATHY (IPEX)
Synonym	IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED
OMIM	304790 OMIM = Online Mendelian Inheritance of Men
Orphanet	37042
Protein (UniProt)	Forkhead box protein P3
Gene locus	Xp11.23
ICD	E31.0
Summary	rare X-linked recessive mutation in the FOXP3 gene
Laboratory findings	Immunglobulin IgE inc (serum) Thrombocytes, Platelets dec (blood)
Symptoms	anemia diarrhea early death enteropathy, protein-loosing eosinophilia hyperglycemia ileus infections (respiratory tract/system) infections (severe or recurrent) neutropenia (decreased neutrophils) onset, infancy onset, neonatal skin rash, eczematous or seborrhoic thrombopenia, thrombocytopenia