Acta Med. 2024, 67: 60-63
https://doi.org/10.14712/18059694.2024.21
Atypical Manifestation of X-linked Agammaglobulinemia – the Importance of Genetic Testing
Adam Markocsy
a, Daniela Kapustová
a, Andrej Čereš
b, Eva Froňkova
c,
Miloš Jeseňáka,b,d
aCentre for Primary Immunodeficiencies, Department of Paediatrics, Jessenius Faculty of Medicine, Comenius University in Bratislava, University Hospital in Martin, Slovakia
bDepartment of Clinical Immunology and Allergology, Jessenius Faculty of Medicine, Comenius University in Bratislava, University Hospital in Martin, Slovakia
cCLIP Laboratory centre, Department of Paediatric Haematology and Oncology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic
dCentre for Primary Immunodeficiencies, Department of Pulmonology and Phthisiology, Jessenius Faculty of Medicine, Comenius University in Bratislava, University Hospital in Martin, Slovakia
Received June 9, 2024
Accepted August 7, 2024
Crossref Cited-by Linking
- Wu Ping, Zhao Jing, Yu Zilong, Li Hongwei, Liu Zhenwei, Peng Yinghui, Cai Zhe, Chen Dehui, Lu Chengyu: A novel SPI1 variant (c.566T\u2009>\u2009C (p.Ile189Thr)) possibly associated with autosomal dominant agammaglobulinemia in a Chinese girl. BMC Pediatr 2026, 26. <https://doi.org/10.1186/s12887-025-06498-4>
