Genotype–phenotype correlations in WHIM syndrome: a systematic characterization of CXCR4(WHIM) variants

Warts, hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome is a rare primary immunodeficiency predominantly caused by heterozygous gain-of-function mutations in CXCR4 C-terminus. We assessed genotype–phenotype correlations for known pathogenic CXCR4 variants and in vitro response of eac...

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Detalles Bibliográficos
Autores principales: Zmajkovicova, Katarina, Pawar, Sumit, Maier-Munsa, Sabine, Maierhofer, Barbara, Wiest, Ivana, Skerlj, Renato, Taveras, Arthur G., Badarau, Adriana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9519442/
https://www.ncbi.nlm.nih.gov/pubmed/36089616
http://dx.doi.org/10.1038/s41435-022-00181-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9519442/
https://www.ncbi.nlm.nih.gov/pubmed/36089616
http://dx.doi.org/10.1038/s41435-022-00181-9

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