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Kobayashi, E.S.* ; Lotan, N.S.* ; Schejter, Y.D.* ; Makowski, C.* ; Kraus, V.* ; Ramchandar, N.* ; Meiner, V.* ; Thiffault, I.* ; Farrow, E.* ; Cakici, J.* ; Kingsmore, S.* ; Wagner, M. ; Rieber, N.* ; Bainbridge, M.*

Biallelic loss of function variants in SENP7 cause immunodeficiency with neurologic and muscular phenotypes.

J. Pediatr. 274:114180 (2024)
DOI PMC
Open Access Green as soon as Postprint is submitted to ZB.
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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Publication type Article: Journal article
Document type Scientific Article
Corresponding Author
Keywords 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
Journal Journal of Pediatrics, The
Quellenangaben Volume: 274, Issue: , Pages: , Article Number: 114180 Supplement: ,
Publisher Elsevier
Publishing Place 360 Park Avenue South, New York, Ny 10010-1710 Usa
Non-patent literature Publications
Reviewing status Peer reviewed
Institute(s) Institute of Neurogenomics (ING)
Grants Ernest Rady and Rady Family Foundation