A Novel BLNK Gene Mutation in a Four-Year-Old Child Who Presented with Late Onset of Severe Infections and High IgM Levels and Diagnosed and Followed as X-Linked Agammaglobulinemia for Two Years

Agammaglobulinemia is a rare inherited immunodeficiency disorder. Mutations in the BLNK gene cause low levels of mature B lymphocytes in the peripheral blood leading to recurrent infections. We present a four-year-old Turkish boy who had recurrent respiratory tract infections in the last six months....

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Detalles Bibliográficos
Autores principales: Topyildiz, Ezgi, Edeer Karaca, Neslihan, Aygun, Ayse, Aykut, Ayca, Durmaz, Asude, Aksu, Guzide, Kutukculer, Necil
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9205732/
https://www.ncbi.nlm.nih.gov/pubmed/35719418
http://dx.doi.org/10.1155/2022/7313009

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