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| Primary immunodeficiency or monogenic inflammatory bowel disease v8.29 | QSOX2 | Achchuthan Shanmugasundram Classified gene: QSOX2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v8.29 | QSOX2 |
Achchuthan Shanmugasundram Added comment: 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. |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v8.29 | QSOX2 | Achchuthan Shanmugasundram Gene: qsox2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v8.28 | QSOX2 |
Achchuthan Shanmugasundram gene: QSOX2 was added gene: QSOX2 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: QSOX2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: QSOX2 were set to 39341815 Phenotypes for gene: QSOX2 were set to Maharaj Storr Syndrome Review for gene: QSOX2 was set to AMBER Added comment: 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 |
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