Identification and Functional Validation of Novel Pathogenic Variants in Primary Immunodeficiencies.
Vr A, Govindaraj GM, Iyer AR, Paul S, Edavazhippurath A, Jain A, Gupta P, Deshmukh GY, Singh S, Saravanakumar V, Bhardwaj J, Sharma S, Benny TP, Saravanan P, Bhoyar RC, Imran M, Senthivel V, Divakar MK, Vignesh H, Jolly B, Dalvi A, Bargir UA, Madkaikar M, Bk B, Sivasubbu S, Ramalingam S, Scaria V.
Vr A, et al.
Eur J Immunol. 2025 Oct;55(10):e70057. doi: 10.1002/eji.70057.
Eur J Immunol. 2025.
PMID: 41116289
In this study, we identified five novel variants in PID-related genes in six families using whole-exome sequencing. These variants include FCHO1 (E44K), NCF2 (A206P), NCF2 (c.174 + 1G > A), STAT1 (L199F), and a copy number deletion in LRBA (exon 9-17). Functional …
In this study, we identified five novel variants in PID-related genes in six families using whole-exome sequencing. These variants include F …