Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: QSOX2

I don't know

Comment on list classification: Although recurrent respiratory infections and atopic eczema were reported in all three unrelated families from PMID:39341815, immunological profile showing immunodeficiency was reported only in one family.

As there is functional evidence available in addition to human cases, this gene can be rated amber with the current evidence.

Created: 5 Aug 2025, 9:53 a.m. | Last Modified: 5 Aug 2025, 9:53 a.m.

Panel Version: 8.29

PMID:39341815 reported five patients from three unrelated families presenting with short stature, immune dysfunction, atopic eczema and gastrointestinal dysmotility. They were identified with biallelic QSOX2 variants via whole exome/genome sequencing. A total of six different variants were identified from these patients.

Although all five patients were reported with short stature, only the twins from family 1 had height < -3 SD below mean for the age. Recurrent respiratory infections and atopic eczema was reported in four patients from three families, while this was absent in the father of family 2. Low IgM levels and abnormalities in some other immunological markers were only reported in twins from family 1.

There is also functional evidence available. Patient-derived fibroblasts showed defective STAT5B nuclear translocation despite enhanced phosphorylation, and demonstrated growth hormone-induced mitochondriopathy and reduced mitochondrial membrane potential.
Sources: Literature

Created: 5 Aug 2025, 9:49 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Maharaj Storr Syndrome

Publications

• 39341815