Duplication of Exons 8-9 in NCF2 Leading to Incomplete Clinical Penetrance in Chronic Granulomatous Disease

J Clin Immunol. 2023 Dec 22;44(1):14. doi: 10.1007/s10875-023-01624-2.

Authors

Marco Antonio Venancio Hernández¹, Carlos Sanchez Flores², María Jiménez Juárez²; Chronic Granulomatous Disease Consortium; Lizbeth Blancas Galicia³

Collaborators

Chronic Granulomatous Disease Consortium:
Sara Espinosa Padilla, Antonio Condino Neto

Affiliations

¹ U.M.A.E. "La Raza", I.M.S.S., Mexico City, Mexico.
² Laboratory of Immunodeficiencies, National Institute of Pediatrics, 1 Iman Avenue, Floor 9, 04530, Mexico City, Mexico.
³ Laboratory of Immunodeficiencies, National Institute of Pediatrics, 1 Iman Avenue, Floor 9, 04530, Mexico City, Mexico. [email protected].

PMID: 38129542
DOI: 10.1007/s10875-023-01624-2

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Exons
Granulomatous Disease, Chronic* / diagnosis
Granulomatous Disease, Chronic* / genetics
Humans
Mutation / genetics
NADPH Oxidases / genetics
Neutrophils
Penetrance

Substances

NADPH Oxidases
NCF2 protein, human

Grants and funding

S/N/FUMENI A.C.