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:	E. V. Kuvschinova, L. M. Kurtasova, A. G. Borisov, A. R. Schmidt, T. A. Gerasimova
Formato:	article
Lenguaje:	RU
Publicado:	SPb RAACI 2020
Materias:	primary immune deficiency state b cells immunoglobulins agammaglobulinemia Immunologic diseases. Allergy RC581-607
Acceso en línea:	https://doaj.org/article/a7b89d84647847978ab456b0272a78b1
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spelling	oai:doaj.org-article:a7b89d84647847978ab456b0272a78b12021-11-18T08:03:48ZClinical case of primary immunodeficiency: X-linked agammaglobulinemia1563-06252313-741X10.15789/1563-0625-CCO-1837https://doaj.org/article/a7b89d84647847978ab456b0272a78b12020-04-01T00:00:00Zhttps://www.mimmun.ru/mimmun/article/view/1837https://doaj.org/toc/1563-0625https://doaj.org/toc/2313-741XAclinical 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.E. V. KuvschinovaL. M. KurtasovaA. G. BorisovA. R. SchmidtT. A. GerasimovaSPb RAACIarticleprimary immune deficiency stateb cellsimmunoglobulinsagammaglobulinemiaImmunologic diseases. AllergyRC581-607RUMedicinskaâ Immunologiâ, Vol 22, Iss 2, Pp 379-382 (2020)
institution	DOAJ
collection	DOAJ
language	RU
topic	primary immune deficiency state b cells immunoglobulins agammaglobulinemia Immunologic diseases. Allergy RC581-607
spellingShingle	primary immune deficiency state b cells immunoglobulins agammaglobulinemia Immunologic diseases. Allergy RC581-607 E. V. Kuvschinova L. M. Kurtasova A. G. Borisov A. R. Schmidt T. A. Gerasimova Clinical case of primary immunodeficiency: X-linked agammaglobulinemia
description	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.
format	article
author	E. V. Kuvschinova L. M. Kurtasova A. G. Borisov A. R. Schmidt T. A. Gerasimova
author_facet	E. V. Kuvschinova L. M. Kurtasova A. G. Borisov A. R. Schmidt T. A. Gerasimova
author_sort	E. V. Kuvschinova
title	Clinical case of primary immunodeficiency: X-linked agammaglobulinemia
title_short	Clinical case of primary immunodeficiency: X-linked agammaglobulinemia
title_full	Clinical case of primary immunodeficiency: X-linked agammaglobulinemia
title_fullStr	Clinical case of primary immunodeficiency: X-linked agammaglobulinemia
title_full_unstemmed	Clinical case of primary immunodeficiency: X-linked agammaglobulinemia
title_sort	clinical case of primary immunodeficiency: x-linked agammaglobulinemia
publisher	SPb RAACI
publishDate	2020
url	https://doaj.org/article/a7b89d84647847978ab456b0272a78b1
work_keys_str_mv	AT evkuvschinova clinicalcaseofprimaryimmunodeficiencyxlinkedagammaglobulinemia AT lmkurtasova clinicalcaseofprimaryimmunodeficiencyxlinkedagammaglobulinemia AT agborisov clinicalcaseofprimaryimmunodeficiencyxlinkedagammaglobulinemia AT arschmidt clinicalcaseofprimaryimmunodeficiencyxlinkedagammaglobulinemia AT tagerasimova clinicalcaseofprimaryimmunodeficiencyxlinkedagammaglobulinemia
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Clinical case of primary immunodeficiency: X-linked agammaglobulinemia

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