Follow-up Study of a Child with Severe Combined Immune Deficiency

We present the results of 7-year follow-up of a patient with primary immunodeficiency, such as severe combined immune deficiency, X-linked variant. The child has been ill from 11 month of age. He was taken to the Regional Infectious Disease Hospital in Irkutsk by sanitary aviation in extremely serio...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	T. B. Pavlova, V. M. Shinkareva
Formato:	article
Lenguaje:	RU
Publicado:	Scientific Сentre for Family Health and Human Reproduction Problems 2019
Materias:	primary immunodeficiency severe combined immunodeficiency disease hematopoietic stem cell transplantation children Science Q
Acceso en línea:	https://doaj.org/article/705eda7a752f4152838fc73ab0ad8138
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:705eda7a752f4152838fc73ab0ad8138
record_format	dspace
spelling	oai:doaj.org-article:705eda7a752f4152838fc73ab0ad81382021-11-23T06:14:42ZFollow-up Study of a Child with Severe Combined Immune Deficiency2541-94202587-959610.29413/ABS.2019-4.2.12https://doaj.org/article/705eda7a752f4152838fc73ab0ad81382019-05-01T00:00:00Zhttps://www.actabiomedica.ru/jour/article/view/2050https://doaj.org/toc/2541-9420https://doaj.org/toc/2587-9596We present the results of 7-year follow-up of a patient with primary immunodeficiency, such as severe combined immune deficiency, X-linked variant. The child has been ill from 11 month of age. He was taken to the Regional Infectious Disease Hospital in Irkutsk by sanitary aviation in extremely serious condition, which threatened his life. At 1 year 2 months he was transferred to Irkutsk State Regional Children’s Clinical Hospital due to deterioration of the general condition, prolonged fever, expressed by hypoxemia. At 1 year 3 months he was diagnosed with primary immunodeficiency, X-linked severe combined immune deficiency, persistent CMV infection in the department of clinical immunology of the Republican Children’s Clinical Hospital in Moscow. The diagnosis was confirmed by molecular genetic method (mutation с.664С˃Т was detected in exon 5 of the IL2RG gene in the hemizygotic state). At 1 year 9 months, haploidentical transplantation of hematopoietic stem cells from the father was performed. According to the chimerism, immune transplant rejection was observed after 1.5 months. At 2 years 11 months, the boy successfully underwent allogeneic bone marrow transplantation from an unrelated donor in the Children’s Oncology and Hematology Hospital of the University Hospital Freiburg (Germany). The child is being regularly observed in Irkutsk State Regional Children’s Clinical Hospital. He suffers from respiratory infections 4–5 times a year in a mild form. He corresponds to peers in physical and psychomotor development.T. B. PavlovaV. M. ShinkarevaScientific Сentre for Family Health and Human Reproduction Problemsarticleprimary immunodeficiencysevere combined immunodeficiency diseasehematopoietic stem cell transplantationchildrenScienceQRUActa Biomedica Scientifica, Vol 4, Iss 2, Pp 76-79 (2019)
institution	DOAJ
collection	DOAJ
language	RU
topic	primary immunodeficiency severe combined immunodeficiency disease hematopoietic stem cell transplantation children Science Q
spellingShingle	primary immunodeficiency severe combined immunodeficiency disease hematopoietic stem cell transplantation children Science Q T. B. Pavlova V. M. Shinkareva Follow-up Study of a Child with Severe Combined Immune Deficiency
description	We present the results of 7-year follow-up of a patient with primary immunodeficiency, such as severe combined immune deficiency, X-linked variant. The child has been ill from 11 month of age. He was taken to the Regional Infectious Disease Hospital in Irkutsk by sanitary aviation in extremely serious condition, which threatened his life. At 1 year 2 months he was transferred to Irkutsk State Regional Children’s Clinical Hospital due to deterioration of the general condition, prolonged fever, expressed by hypoxemia. At 1 year 3 months he was diagnosed with primary immunodeficiency, X-linked severe combined immune deficiency, persistent CMV infection in the department of clinical immunology of the Republican Children’s Clinical Hospital in Moscow. The diagnosis was confirmed by molecular genetic method (mutation с.664С˃Т was detected in exon 5 of the IL2RG gene in the hemizygotic state). At 1 year 9 months, haploidentical transplantation of hematopoietic stem cells from the father was performed. According to the chimerism, immune transplant rejection was observed after 1.5 months. At 2 years 11 months, the boy successfully underwent allogeneic bone marrow transplantation from an unrelated donor in the Children’s Oncology and Hematology Hospital of the University Hospital Freiburg (Germany). The child is being regularly observed in Irkutsk State Regional Children’s Clinical Hospital. He suffers from respiratory infections 4–5 times a year in a mild form. He corresponds to peers in physical and psychomotor development.
format	article
author	T. B. Pavlova V. M. Shinkareva
author_facet	T. B. Pavlova V. M. Shinkareva
author_sort	T. B. Pavlova
title	Follow-up Study of a Child with Severe Combined Immune Deficiency
title_short	Follow-up Study of a Child with Severe Combined Immune Deficiency
title_full	Follow-up Study of a Child with Severe Combined Immune Deficiency
title_fullStr	Follow-up Study of a Child with Severe Combined Immune Deficiency
title_full_unstemmed	Follow-up Study of a Child with Severe Combined Immune Deficiency
title_sort	follow-up study of a child with severe combined immune deficiency
publisher	Scientific Сentre for Family Health and Human Reproduction Problems
publishDate	2019
url	https://doaj.org/article/705eda7a752f4152838fc73ab0ad8138
work_keys_str_mv	AT tbpavlova followupstudyofachildwithseverecombinedimmunedeficiency AT vmshinkareva followupstudyofachildwithseverecombinedimmunedeficiency
_version_	1718416950474833920

Follow-up Study of a Child with Severe Combined Immune Deficiency

Ejemplares similares