IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA (IMDDHH)

Question 1

What is  IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA (IMDDHH)?

Accepted Answer

very rare

autosomal dominant

mutation in the NFE2L2 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 617744

Question 3

Which enzymes are involved?

Accepted Answer

Nuclear factor erythroid 2-related factor 2

Disease	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA (IMDDHH)
OMIM	617744 OMIM = Online Mendelian Inheritance of Men
Orphanet	---
Protein (UniProt)	Nuclear factor erythroid 2-related factor 2
Gene locus	2q31.2
ICD
Summary	very rare autosomal dominant mutation in the NFE2L2 gene
Laboratory findings	Creatinine dec (serum) Homocysteine dec (plasma) L-Cysteine dec (plasma) L-Lactic acid normal/inc (plasma)
Symptoms	cardiomyopathy congenital heart defect defect of walking, running, rising or climbing developmental delay failure to thrive growth retardation, poor growth immunodeficiency infections (respiratory tract/system) infections (severe or recurrent) intellectual disability/intellectual developmental disorder leukoencephalopathy MRI, brain, abnormalities [-] myelination, incomplete, hypomyelination onset, childhood onset, infancy recurrent or intermittent skin defect short stature speech development, delayed, abnormal