Defects of intrinsic and innate immunity

Gene: HMOX1

Green List (high evidence)

In addition to the two cases mentioned in the previous reviews, PMID:33066778 provides a third case in support of promoting HMOX1 to green rating. This third case is a boy born to nonconsanguineous parents who presented with early onset asplenia, recurrent infections, and associated flares with bone marrow histiocyte activation with worsening interstitial lung disease and joint pain. This boy harboured compound heterozygous variants (p.L89Sfs*24 and p.Ala88Profs*51).

Created: 13 Oct 2023, 5:09 p.m. | Last Modified: 13 Oct 2023, 5:09 p.m.

Panel Version: 0.130

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Heme oxygenase-1 deficiency, OMIM:614034

Publications

• 33066778

I don't know

Two families reported, functional data.
Sources: Expert list

Created: 5 Apr 2020, 9:02 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Heme oxygenase-1 deficiency, MIM# 614034; Asplenia

Publications

• 21088618
• 9884342
• 20844238