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Biallelic loss of function variants in SENP7 cause immunodeficiency with neurologic and muscular phenotypes.
J. Pediatr. 274:114180 (2024)
To evaluate a novel candidate disease gene, we engaged international collaborators and identified rare, biallelic, specifically homozygous, loss of function variants in SENP7 in four children from three 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 four 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.
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Publikationstyp
Artikel: Journalartikel
Dokumenttyp
Wissenschaftlicher Artikel
Schlagwörter
Sumoylation ; Desumoylation ; Exome Sequencing ; Genome Sequencing ; Immunodeficiency ; Inborn Error Of Immunity; Sumo; Senp7; Sumoylation; Proteases; Protein
ISSN (print) / ISBN
0022-3476
e-ISSN
1097-6833
Zeitschrift
Journal of Pediatrics, The
Quellenangaben
Band: 274,
Artikelnummer: 114180
Verlag
Elsevier
Verlagsort
360 Park Avenue South, New York, Ny 10010-1710 Usa
Nichtpatentliteratur
Publikationen
Begutachtungsstatus
Peer reviewed
Institut(e)
Institute of Neurogenomics (ING)
Förderungen
Ernest Rady and Rady Family Foundation