X-linked agammaglobulinemia: a review of literature and a case report-Reference-Cited by-同舟云学术

X-linked agammaglobulinemia: a review of literature and a case report

Published:2023-02-14 Issue:1 Volume:22 Page:139-146
ISSN:2414-9314
Container-title:Pediatric Hematology/Oncology and Immunopathology
language:
Short-container-title:Voprosy gematologii/onkologii i immunopatologii v pediatrii

Author:

Mgdsyan E. K.¹^ORCID,Yukhacheva D. V.¹^ORCID,Malakhova E. A.¹^ORCID,Pershin D. E.¹^ORCID,Kieva A. M.¹^ORCID,Raikina E. V.¹^ORCID,Kondratieva N. M.²^ORCID,Alekseeva E. I.³^ORCID,Rodina Yu. A.¹^ORCID,Shcherbina A. Y.¹^ORCID

Affiliation:

1. Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation

2. National Medical Research Center for Children’s Health of Ministry of Healthсare of the Russian Federation

3. National Medical Research Center for Children’s Health of Ministry of Healthсare of the Russian Federation; I.M. Sechenov First Moscow State Medical University of Ministry of Healthcare of the Russian Federation (Sechenov University)

Abstract

X-linked agammaglobulinemia (XLA), or Bruton’s agammaglobulinemia, – is a primary immunodeficiency, caused by defects in the BTK gene encoding Bruton’s tyrosine kinase. The BTK defects lead to the arrest of B-lymphocyte development and, as a result, agammaglobulinemia. The disease manifests with recurrent infections starting in infancy. The gold standard of XLA treatment – intravenous or subcutaneous immunoglobulin substitution – proved effective in various multicenter studies and increases the quality of life of XLA patients. However, there are cases of delayed disease verification, and untimely delayed treatment, which leads to severe, recurrent infections and life-threatening conditions. We present a review of the literature and case report of an XLA patient with ecthyma gangrenosum. The patient's parents gave consent to the use of their child's data, including photographs, for research purposes and in publications.

Publisher

Fund Doctors, Innovations, Science for Children

Subject

Oncology,Hematology,Immunology,Immunology and Allergy,Pediatrics, Perinatology and Child Health

Reference25 articles.

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