{Reference Type}: Journal Article {Title}: Biallelic Loss of Function Variants in SENP7 Cause Immunodeficiency with Neurologic and Muscular Phenotypes. {Author}: Kobayashi ES;Lotan NS;Schejter YD;Makowski C;Kraus V;Ramchandar N;Meiner V;Thiffault I;Farrow E;Cakici J;Kingsmore S;Wagner M;Rieber N;Bainbridge M; {Journal}: J Pediatr {Volume}: 274 {Issue}: 0 {Year}: 2024 Jul 5 {Factor}: 6.314 {DOI}: 10.1016/j.jpeds.2024.114180 {Abstract}: To evaluate a novel candidate disease gene, we engaged international collaborators and identified rare, biallelic, specifically homozygous, loss of function variants in SENP7 in 4 children from 3 unrelated families presenting with neurodevelopmental abnormalities, dysmorphism, and immunodeficiency. Their clinical presentations were characterized by hypogammaglobulinemia, intermittent neutropenia, and ultimately death in infancy for all 4 patients. SENP7 is a sentrin-specific protease involved in posttranslational modification of proteins essential for cell regulation, via a process referred to as deSUMOylation. We propose that deficiency of deSUMOylation may represent a novel mechanism of primary immunodeficiency.