Severe Combined Immunodeficiency (absent T present B cells)
Gene: PTPRC
4 individuals reported with bi-allelic (deletion, splice site, missense and nonsense(UPD-1 patient)) variants; one mouse model
All patients presented with T-, B+, NK+ SCID and early-onset (2-3 months) failure to thrive and recurrent infections (otitis media, pneumonia). Other features displayed include thrush, diarrhoea, fevers, hepatosplenomegaly and lymphadenopathy.Created: 30 Sep 2021, 1:35 a.m. | Last Modified: 30 Sep 2021, 1:35 a.m.
Panel Version: 0.34
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive MIM# 608971; Hepatitis C virus, susceptibility to MIM# 609532
Publications
Gene: ptprc has been classified as Green List (High Evidence).
Phenotypes for gene: PTPRC were changed from to Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive MIM# 608971; Hepatitis C virus, susceptibility to MIM# 609532
Publications for gene: PTPRC were set to
Mode of inheritance for gene: PTPRC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: PTPRC was added gene: PTPRC was added to Severe combined immunodeficiency (absent T, present B cells)_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: PTPRC was set to Unknown