Biallelic TRAF3IP2 variants causing chronic mucocutaneous candidiasis in a child harboring a STAT1 variant.

Pilar Blanco LoboWei-Te LeiSimon J PelhamPaloma Guisado HernándezIsabel VillaosladaBeatriz de FelipeJosé Manuel LucenaJean-Laurent CasanovaPeter OlbrichAnne PuelOlaf Neth

Published in: Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology (2021)

We identify novel compound heterozygous variants of TRAFP3IP2 causing autosomal recessive ACT1 deficiency in a child with CMC and provide a review of the current literature.

Keyphrases

copy number
intellectual disability
mental health
systematic review
early onset
cell proliferation
candida albicans
autism spectrum disorder
gene expression
replacement therapy
dna methylation
genome wide
duchenne muscular dystrophy