Clinical case of primary immunodeficiency: X-linked agammaglobulinemia
| Autor: | E. V. Kuvschinova, L. M. Kurtasova, A. G. Borisov, A. R. Schmidt, T. A. Gerasimova |
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| Jazyk: | ruština |
| Rok vydání: | 2020 |
| Předmět: | |
| Zdroj: | Медицинская иммунология, Vol 22, Iss 2, Pp 379-382 (2020) |
| Druh dokumentu: | article |
| ISSN: | 1563-0625 2313-741X |
| DOI: | 10.15789/1563-0625-CCO-1837 |
| Popis: | Aclinical case ofprimary immunodeficiency state (PIDS) is described: X-linked agammaglobulinemia in the boy of 8 years old. The results of molecular genetic studies: gene btk (ex 1-19) genome version GRCh38.p5, transcript version ENST00000308731 single nucleotide substitution identified с.1027С > Т in homozygous state leading to premature stop codon p.Gln343Ter (p.Q343*). The presented clinical case reflects the low alertness of pediatricians for PIDS. At the same time, a delay in diagnosis and prescription of treatment aggravates the prognosis of the disease course and reduces the quality of the patient life. |
| Databáze: | Directory of Open Access Journals |
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