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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...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Oxford University Press
2023
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| Materias: | |
| 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 |