Adriel Roa-Bautista Mahreen Sohail Emma Wakeling Kimberly C Gilmour Mark Davis Anthony Gait Giovanna Lucchini David Cox Reem Elfeky Maaike Kusters
10.3389/fimmu.2023.1186575
Front Immunol
2023 Jun 12;14:1186575.
sgpl1 gene mutation stat1 case report ichthyosis lymphopenia steroid-resistant nephrotic syndrome (srns)
CC BY
https://pubmed.ncbi.nlm.nih.gov/37377976/
Immunologic Deficiency Syndromes Nephrotic Syndrome / genetics Severe Combined Immunodeficiency
Immunologic Deficiency Syndromes Nephrotic Syndrome / genetics Severe Combined Immunodeficiency Case Reports Research Support, Non-U.S. Gov't Review Aldehyde-Lyases / genetics Aldehyde-Lyases / metabolism Humans Infant, Newborn Janus Kinases / metabolism STAT Transcription Factors / metabolism STAT1 Transcription Factor / genetics STAT1 Transcription Factor / metabolism Signal Transduction Aldehyde-Lyases Janus Kinases SGPL1 protein, human STAT Transcription Factors STAT1 protein, human STAT1 Transcription Factor
PMC10291229
37377976
Combined novel homozygous variants in both SGPL1 and STAT 1 presenting with severe combined immune deficiency: case report and literature review
2023