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

Autor: Topyildiz, Ezgi, Edeer Karaca, Neslihan, Aygun, Ayse, Aykut, Ayca, Durmaz, Asude, Aksu, Guzide, Kutukculer, Necil
Jazyk: angličtina
Rok vydání: 2022
Předmět:
Zdroj: Case Reports in Immunology.
ISSN: 2090-6609
DOI: 10.1155/2022/7313009
Popis: 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. He had very low IgG (81 mg/dl) and IgA levels ( T (p.Gln264Ter) mutation was detected in the BLNK gene with Targeted Next Generation Sequencing (TNGS) gene analysis. Agammaglobulinemia may be due to different genetic etiologies together with complex genetic events. Although the first diagnosis to be considered in male patients is Bruton’s agammaglobulinemia, patients with normal BTK sequence and/or expression should be investigated with a large genetic study such as TNGS in the early period to reach a definitive diagnosis. This male case of agammaglobulinemia highlights the necessity of considering BLNK mutations in children with B cell deficiency, even though they are known to be rare causes of agammaglobulinemia. Our case is also remarkable with high IgM levels before intravenous immunoglobulin replacement therapy and with late-onset severe infections.
Databáze: OpenAIRE
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