The source focuses on the clinical, immunological, and molecular features of Severe Combined Immune Deficiency (SCID) based on a multi-institutional experience from India. The specific gene studied in this case is IL2RG. The HGNCID for this gene is HGNC:6016. The sources provide information about a 6-month-old male patient with SCID. The patient's family history suggests a possible X-linked inheritance pattern. The sources note the absence of autoimmunity and malignancies in the patient. Information regarding the patient's variant, previous testing, and publication history is not available in the sources.
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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www.frontiersin.org www.frontiersin.org
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In this study, we report a 4-month-old boy with T−B+NK− SCID due to an unreported nonsense mutation in exon 2 of the IL2RG gene. The patient was derived from a twin pregnancy, and his twin brother was asymptomatic with no immune defects. In order to confirm the pathogenic effect of the detected novel variant on the protein structure, a modeling process was performed.
Case: Patient, Male, 4 months old <br /> DiseaseAssertion: SCID <br /> FamilyInfo: third child of non-consanguineous parents; has twin brother that is asymptomatic with no immune defects; no family history of primary immunodeficiencies <br /> CasePresentingHPOs: HP:0002014, HP:0020099, HP:0030148 <br /> CaseHPOFreeText: diarrhea, norovirus infection, heart murmur <br /> CaseNotHPOs: increased CRP <br /> CasePreviousTesting: N/A <br /> Gene: IL2RG <br /> Variant: NM_000206(IL2RG): <br /> ClinVar: <br /> CAID: <br /> gnomAD: <br /> SupplementalData:
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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National experience with adenosine deaminase deficiency related SCID in Polish children
PMID:36685585
Gene: Adenosine Deaminase (ADA)
HGNCID: 186
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