Novel EXTL3 Variants Causing Neuro-Immuno-Skeletal Dysplasia

J Clin Immunol. 2024 Aug 31;44(8):188. doi: 10.1007/s10875-024-01784-9.

Authors

Sarah S Mehta¹; Wash U./N. I. H. EXTL3 Consortium; Marita Bosticardo², Luigi D Notarangelo², Maleewan Kitcharoensakkul³

Collaborators

Wash U./N. I. H. EXTL3 Consortium:
Armen Sanosyan, Megan A Cooper, Jeffrey J Bednarski, Catherine Gooch, Francesca Pala, Kayla Amini

Affiliations

¹ Department of Pediatrics, Washington University in Saint Louis, 660 S. Euclid, Campus Box 8116, Saint Louis, MO, 63110, USA.
² Laboratory of Clinical Immunology and Microbiology, NIAID, NIH, Bethesda, MD, USA.
³ Department of Pediatrics, Washington University in Saint Louis, 660 S. Euclid, Campus Box 8116, Saint Louis, MO, 63110, USA. maleewan@wustl.edu.

PMID: 39215781
DOI: 10.1007/s10875-024-01784-9

No abstract available

Keywords: ATO; EXTL3; Omenn syndrome; SCID.

Publication types

Letter
Case Reports
Research Support, N.I.H., Intramural

MeSH terms

Female
Genetic Predisposition to Disease
Humans
Male
Mutation / genetics
N-Acetylglucosaminyltransferases* / genetics
Osteochondrodysplasias* / diagnosis
Osteochondrodysplasias* / genetics
Osteochondrodysplasias* / immunology

Substances

N-Acetylglucosaminyltransferases

Grants and funding

AI001222/HI/NHLBI NIH HHS/United States