Disorders of immune dysregulation

Gene: MADD

Amber List (moderate evidence)

MADD (MAP kinase activating death domain)
EnsemblGeneIds (GRCh38): ENSG00000110514
EnsemblGeneIds (GRCh37): ENSG00000110514
OMIM: 603584, Gene2Phenotype
MADD is in 6 panels

1 review

Peter McNaughton (Queensland Children's Hospital)

I don't know

2-month-old female infant born to consanguineous parents was admitted with complex syndromic features of dystrophy, endocrinological dysfunction, and developmental delay developed partial features of HLH with a postnatally acquired cytomegalovirus infection and a persistent secretory enteropathy. Her brother with similar symptoms had died at 2 years of life. Severe degranulation defect of resting and IL-2–stimulated NK and cytotoxic T lymphocytes (CTLs) was detected. MADD knockout cell line showed same defect.
Another patient displayed reduced degranulation of cytotoxic cells (patient 2 PMID: 32761064)
Sources: Literature
Created: 21 Nov 2023, 5:32 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
HLH, enteropathy

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • HLH, enteropathy
OMIM
603584
Clinvar variants
Variants in MADD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Dec 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: madd has been classified as Amber List (Moderate Evidence).

6 Dec 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: madd has been classified as Amber List (Moderate Evidence).

21 Nov 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Peter McNaughton (Queensland Children's Hospital)

gene: MADD was added gene: MADD was added to Disorders of immune dysregulation. Sources: Literature Mode of inheritance for gene: MADD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MADD were set to PMID: 36206192 Phenotypes for gene: MADD were set to HLH, enteropathy Review for gene: MADD was set to AMBER