Disorders of immune dysregulation
Gene: MADD
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: LiteratureCreated: 21 Nov 2023, 5:32 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HLH, enteropathy
Publications
Gene: madd has been classified as Amber List (Moderate Evidence).
Gene: madd has been classified as Amber List (Moderate Evidence).
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