A new severe congenital neutropenia syndrome associated with autosomal recessive COPZ1 mutations.
Borbaran Bravo N, Deordieva E, Doll L, ElGamacy M, Dannenmann B, Azevedo J, Iannuzzo A, Delafontaine S, Lehners M, Kolodziej M, Hernandez Alvarez B, Hellmuth AS, Ritter M, Findik B, Zakharova V, Bräuning S, Kandabarau S, Lengerke C, Feil R, Meyts I, Delon J, Templin M, Sturm M, Rieß O, Zeidler C, Welte K, Shcherbina A, Klimiankou M, Skokowa J.
Blood. 2025 May 15;145(20):2317-2335. doi: 10.1182/blood.2023022576.
PMID:39642330
Congenital neutropenia and primary immunodeficiency diseases.