Biallelic Loss of Function Variants in SENP7 Cause Immunodeficiency with Neurologic and Muscular Phenotypes.
Document Type
Article
Publication Date
11-2024
Identifier
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.
Journal Title
The Journal of pediatrics
Volume
274
First Page
114180
Last Page
114180
MeSH Keywords
Child, Preschool; Female; Humans; Infant; Male; Cysteine Endopeptidases; Fatal Outcome; Immunologic Deficiency Syndromes; Loss of Function Mutation; Phenotype
Keywords
SUMOylation; deSUMOylation; exome sequencing; genome sequencing; immunodeficiency; inborn error of immunity
Recommended Citation
Kobayashi ES, Lotan NS, Schejter YD, et al. Biallelic Loss of Function Variants in SENP7 Cause Immunodeficiency with Neurologic and Muscular Phenotypes. J Pediatr. 2024;274:114180. doi:10.1016/j.jpeds.2024.114180
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