Hyper-IgM and acquired C1q complement deficiency in a patient with de novo  ATM mutation

Hyper-IgM syndrome (HIGM) is a rare immunodeficiency phenotype that is usually accompanied by serious infections. We present a curious case of the incidental detection of HIGM in a 45-year-old male with complement C1q deficiency. He had relatively mild sinopulmonary infections, recurrent skin infect...

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Detalles Bibliográficos
Autores principales: Lee, Adrian Y S, Dai, Pei, Burnett, Leslie, Wei, Xiumei, Kakar, Fakhria, Ohnesorg, Thomas, Lin, Ming-Wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9969825/
https://www.ncbi.nlm.nih.gov/pubmed/36860961
http://dx.doi.org/10.1093/omcr/omad005

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9969825/
https://www.ncbi.nlm.nih.gov/pubmed/36860961
http://dx.doi.org/10.1093/omcr/omad005

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