Clinical case of primary immunodeficiency: X-linked agammaglobulinemia
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 &...
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| Autores principales: | , , , , |
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| Formato: | article |
| Lenguaje: | RU |
| Publicado: |
SPb RAACI
2020
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| Materias: | |
| Acceso en línea: | https://doaj.org/article/a7b89d84647847978ab456b0272a78b1 |
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| Sumario: | 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. |
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