Combined B and T cell defect
Gene: STK4Comment on publications: moved reviews of publicationsCreated: 29 Mar 2018, 12:38 p.m.
Ellen McDonagh (Genomics England Curator) 6 Jun 2016, 3:20 p.m. review. PMID: 22174160 Nehme NT MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival.Blood. 2012 Apr 12 119(15):3458-68;PMID: 22294732;PMID: 26801501;PMID: 26117625;PMID: 24453252 knockout miceCreated: 29 Mar 2018, 12:36 p.m.
Comment on list classification: This gene was added by an expert reviewer. There are three cases/families reported in OMIM, and a literature review revealed further cases with multiple variants in patients from different ethnicities (see PMID: 26117625 for a summary table of variants identified in patients).Created: 6 Jun 2016, 2:20 p.m.
Publications for STK4 were set to 22174160; 22294732; 26801501; 26117625; 24453252
This gene has been classified as Green List (High Evidence).
Publications for STK4 were set to PMID: 22174160 Nehme NT MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival.Blood. 2012 Apr 12 119(15):3458-68; PMID: 22294732; PMID: 26801501; PMID: 26117625; PMID: 24453252 knockout mice
Phenotypes for STK4 were set to Hypergammaglobulinaemia, lymphopenia, combined immunodeficiency, congenital heart disease, autoimmunity; T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations; AR hyperimmunoglobulin E syndrome
Publications for STK4 were set to PMID: 22174160 Nehme NT MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival.Blood. 2012 Apr 12 119(15):3458-68; PMID: 22294732; PMID: 26801501; PMID: 26117625
Publications for STK4 were set to PMID: 22174160 Nehme NT MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival.Blood. 2012 Apr 12 119(15):3458-68; PMID: 22294732; PMID: 26801501
This gene has been removed from the panel.
Publications for STK4 were set to PMID: 22174160 Nehme NT MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival.Blood. 2012 Apr 12 119(15):3458-68; PMID: 22294732
Publications for STK4 were set to PMID: 22174160 Nehme NT MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival.Blood. 2012 Apr 12; 119(15):3458-68; PMID: 22294732
Phenotypes for STK4 were set to Hypergammaglobulinaemia, lymphopenia, combined immunodeficiency, congenital heart disease, autoimmunity; T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations
Publications for STK4 were set to Nehme NT MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival.Blood. 2012 Apr 12; 119(15):3458-68 PMID: 22174160
Publications for STK4 were set to Nehme NT MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival.Blood. 2012 Apr 12; 119(15):3458-68
STK4 was created by wmkr103
STK4 was added to Combined B and T cell defectpanel. Sources: Literature