Name: INO80 deficiency | Acronym: HIGM4
Alt. names: hyper-IgM syndrome type 4

Gene: INO80 | MOI: Autosomal recessive | Mechanism of action:

No. of cases in DB: 0 | First reported in: 2015

Last updated on: 2023-05-17 17:23:14 by

OMIM:

Orphanet: -

MONDO: 0011864

DOID: -

ClinGen: Disputed (2021-01-22)

INO80 was reported in relation autosomal recessive common variable Immunodeficiency in 2015 (Kracker et al., PMID: 25312759). In this study, compound heterozygous missense variants in INO80 were identified in 2 unrelated male patients with an immunoglobulin class-switch repair deficiency. The allele frequencies for the variants in these cases are higher than would be expected for disease-causing variants and were flagged as contradictory evidence. This gene-disease association is supported by in vitro functional assay. Experimental evidence like mouse models and biochemical function highlighted INO80's role in DNA repair, consistent with the mechanism of disease, but the data was insufficient for scoring. Given the allele frequencies in only two the patients reported, there is convincing evidence disputing the relationship between INO80 and autosomal recessive common variable Immunodeficiency. More evidence is needed to either support or refute the role INO80 plays in this disease.

Description of management option has not been reviewed yet.