IMMUNODEFICIENCY 23 (CDG)

Question 1

What is  IMMUNODEFICIENCY 23 (CDG)?

Accepted Answer

rare
autosomal recessive
mutation in the PGM3 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Immundefekt, kombinierter, durch PGM3-Mangel; PGM3-CDG

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 615816

Question 4

Which enzymes are involved?

Accepted Answer

Phosphoacetylglucosamine mutase

Disease	IMMUNODEFICIENCY 23 (CDG)
Synonym	PDM3-CDG; IMMUNODEFICIENCY WITH HYPER IgE AND COGNITIVE IMPAIRMENT
OMIM	615816 OMIM = Online Mendelian Inheritance of Men
Orphanet	443811
Protein (UniProt)	Phosphoacetylglucosamine mutase
ExPASy	5.4.2.3
Gene locus	6q14.1
ICD	E77.8
Summary	rare autosomal recessive mutation in the PGM3 gene
Laboratory findings	Immunglobulin IgD normal/inc (plasma) Leucocytes dec (blood)
Symptoms	anemia ataxia bronchiectasia dermatitis dysarthria erythema multiforme hearing defect, deafness hypotonia infections (severe or recurrent) myoclonus neutropenia (decreased neutrophils) onset, childhood peripheral vascular disease renal failure, acute/chronic skeletal changes, skeletal abnormalities skin defects