Combined novel homozygous variants in both SGPL1 and STAT1 presenting with severe combined immune deficiency: case report and literature review
ConclusionWe report the finding of two novel, homozygous variants in SGPL1 and STAT1 in a patient with a severe clinical phenotype and fatal outcome early in life. This case highlights the importance of completing the primary immunodeficiency genetic panel in full to avoid missing a second diagnosis in other patients presenting with similar severe clinical phenotype early in life. For SPLIS no curative treatment is available and more research is needed to investigate different treatment modalities. Hematopoietic stem cell transplantation (HSCT) shows promising results in patients with autosomal recessive STAT1 deficiency. ...
Source: Frontiers in Immunology - June 12, 2023 Category: Allergy & Immunology Source Type: research
Identification of a novel partial deletion of < em > STS < /em > associated with pre-Descemet corneal dystrophy and X-linked ichthyosis
CONCLUSIONS: PDCD with XLI may be associated with either partial or complete deletion of STS. Despite the identification of point mutations, partial deletion, and complete deletion of STS in different affected families reported to date, there was no apparent difference in the affected phenotype between the families, suggesting that the identified variants likely all resulted in loss of function of steroid sulfatase.PMID:37287641 | PMC:PMC10243677 (Source: Molecular Vision)
Source: Molecular Vision - June 8, 2023 Category: Molecular Biology Authors: Dominic Williams Onyinye Onyia Doug D Chung Artak Kirakosyan Anna Hovakimyan Carter Payne Majid Moshirfar Anthony J Aldave Source Type: research
