ICHAD syndrome is a novel disorder characterized by immunodysregulation, craniofacial anomalies, hearing impairment, athelia, and developmental delay. It has been reported that dominant negative variants in IKZF2 cause this syndrome. IKZF2 encodes Helios, a member of the Ikaros family of transcription factors. Helios is a zinc finger protein involved in embryogenesis and immune function.
Category
Immune system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
04 Diseases of the immune system
Primary immunodeficiencies
4A01 Primary immunodeficiencies due to disorders of adaptive immunity
H02957 ICHAD syndrome
Lu HY, Vaseghi-Shanjani M, Lam AJ, Sharma M, Mohajeri A, Silva LBR, Gillies J, Yang GX, Lin S, Fu MP, Salman A, Rahmanian R, Armstrong L, Halparin J, Yang CL, Chilvers M, Henkelman E, Rehmus W, Morrison D, Setiadi A, Mostafavi S, Kobor MS, Kozak FK, Biggs CM, van Karnebeek C, Hildebrand KJ, Levings MK, Turvey SE
Title
A Germline Heterozygous Dominant Negative IKZF2 Variant Causing Syndromic Primary Immune Regulatory Disorder and ICHAD.
Mohajeri A, Vaseghi-Shanjani M, Rosenfeld JA, Yang GX, Lu H, Sharma M, Lin S, Salman A, Waqas M, Sababi Azamian M, Worley KC, Del Bel KL, Kozak FK, Rahmanian R, Biggs CM, Hildebrand KJ, Lalani SR, Nicholas SK, Scott DA, Mostafavi S, van Karnebeek C, Henkelman E, Halparin J, Yang CL, Armstrong L, Turvey SE, Lehman A
Title
Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay.
