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: