IllnessDiabetes bei Autoimmunität in mehreren Organen, Differentialdiagnose

Summary

Short information

Comprehensive differential diagnostic panel for Diabetes and autoimmunity in multiple organs comprising 4 or 5 curated genes according to the clinical signs

DP3353

Number of loci

Loci type	Count
Gen	5

Accredited laboratory test

Examined sequence length

13,9 kb (Core-/Core-canditate-Genes)
15,7 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Test material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Loci panel

Gen

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
AIRE	1638	607358	NM_000383.4	AR
FOXP3	1296	300292	NM_014009.4	XLR
LRBA	8556	606453	NM_001199282.2	AR
STAT3	2313	102582	NM_139276.3	AD
ZAP70	1860	176947	NM_001079.4	AR

Informations about the disease

Synonyms

Alias: Autoimmune polyendocrinopathy type 1-4; types 3, 4 multifactorial
Allelic: Diabetes, mellitus, insulin-dependent, susceptibility to, 10 (IL2RA)
Allelic: Hyper-IgE recurrent infection syndrome (STAT3)
Autoimmune disease, multisystem, infantile-onset, 1 (STAT3)
Autoimmune disease, multisystem, infantile-onset, 2 (ZAP70)
Autoimmune polyendocrinopathy syndrome, type I, with/-out reversible metaphyseal dysplasia (AIRE)
Immunodeficiency 41 with lymphoproliferation + autoimmunity (IL2RA)
Immunodeficiency 48 (ZAP70)
Immunodeficiency, common variable, 8, with autoimmunity (LRBA)
Immunodysregulation, polyendocrinopathy + enteropathy, X (FOXP3)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined