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

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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.

About the authors

E. K. Mgdsyan

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

Author for correspondence.
Email: edmondio100@ya.ru
ORCID iD: 0000-0002-9263-6545

Edmond К. Mgdsyan, a resident

1 Samory Mashela St., Moscow 117997, Russia 

Russian Federation

D. V. Yukhacheva

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

ORCID iD: 0000-0001-9078-8206

 Moscow 

Russian Federation

E. A. Malakhova

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

ORCID iD: 0000-0002-7334-0706

 Moscow 

Russian Federation

D. E. Pershin

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

ORCID iD: 0000-0002-6148-7209

 Moscow 

Russian Federation

A. M. Kieva

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

ORCID iD: 0000-0003-2467-2840

 Moscow 

Russian Federation

E. V. Raikina

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

ORCID iD: 0000-0002-7634-2053

 Moscow 

Russian Federation

N. M. Kondratieva

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

ORCID iD: 0000-0003-4233-5696

 Moscow 

Russian Federation

E. I. Alekseeva

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)

ORCID iD: 0000-0002-3874-4721

 Moscow 

Russian Federation

Yu. A. Rodina

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

ORCID iD: 0000-0001-9857-4456

 Moscow 

Russian Federation

A. Y. Shcherbina

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

ORCID iD: 0000-0002-3113-4939

 Moscow 

Russian Federation

References

  1. Bruton O. C., Agammaglobulinemia. Pediatrics 9 – 1952. - P. 722–728.
  2. Hans D. Ochs, C.I. Edvard Smith, Jennifer M. Puck. Primary immunodeficiency diseases: a molecular and genetic approach. – 2014. – Р: 299-323.
  3. Tangye S.G., Al-Herz W., Bousfiha A., Chatila T., Cunningham-Rundles C., Etzioni A, et al. Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol. – 2020. – Vol. 40. – P. 24–64.
  4. El-Sayed Z.A., Abramova I., Aldave J. C., Al-Herz W., Bezrodnik L., Boukari R., et al. X-linked agammaglobulinemia (XLA): Phenotype, diagnosis, and therapeutic challenges around the world. World Allergy Organ J. – 2019. – Vol. 12, No 3. – P.100018
  5. Tsukada S., Saffran D.C., Rawlings D.J., Parolini O., Allen R.C., Klisak I, et al. Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia. Cell. – 1993. – 72. – P. 279–290.
  6. Vetrie D., Vorechovský I, Sideras P, Holland J, Davies A, Flinter F, et al. The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases. Nature – 1993. – 361. –P. 226–233.
  7. Väliaho J, Smith CI, Vihinen M. BTKbase: the mutation database for X-Linked agammaglobulinemia // https://databases.lovd.nl/shared/genes/BTK.
  8. Takada H., Kanegane H, Nomura A, Yamamoto K, Ihara K, Takahashi Y, et al. Female agammaglobulinemia due to the Bruton tyrosine kinase deficiency caused by extremely skewed X-chromosome inactivation // Blood. – 2004. –103. – P: 185–7.
  9. Janeway’s Immunobiology 9th Edition. – 2017. – Р: 281, 295-302, 541.
  10. Pal Singh S., Dammeijer F, Hendriks RW et al. Role of Bruton's tyrosine kinase in B cells and malignancies. Mol Cancer. – 2018. – Feb 19;17. – P.:57.
  11. Никитин E.A. Передача сигнала через B-клеточный рецептор: механизмы и ингибиторы. Клиническая онкогематология. – 2014. – 7(3). – C. 251–63.
  12. Cardenas-Morales M., Hernandez-Trujillo V.P. Agammaglobulinemia: from X-linked to Autosomal Forms of Disease. Clin Rev Allergy Immunol. – 2021. – Jul 9:1. –14., 5.
  13. Абрамова И. Н. Оценка эффективности и фармакоэкономический анализ заместительной терапии первичных иммунодефицитов с дефектом гуморального звена у детей. Диссертация на соискание ученой степени к.м.н. – 2020 г. – С.: 12-26, 53-55, 81-84.
  14. Ochs H.D., Smith C.I. X-linked agammaglobulinemia. A clinical and molecular analysis. Medicine (Baltimore). – 1996. – Nov;75(6). – P.:287-99.
  15. O'Toole D., Groth D., Wright H., Bonilla F.A., Fuleihan R.L., Cunningham-Rundles C., et al. X-Linked Agammaglobulinemia: Infection Frequency and Infection-Related Mortality in the USIDNET Registry. J Clin Immunol. – 2022. – May; 42(4). – P. 827-836.
  16. Lougaris V., Soresina A., Baronio M., Montin D., Martino S., Signa S., et al. Long-term follow-up of 168 patients with X-linked agammaglobulinemia reveals increased morbidity and mortality. J Allergy Clin Immunol. – 2020. – Aug; 146(2). – P. 429-437.
  17. Paccoud O., Mahlaoui N., Moshous D., Aguilar C., Neven B., Lanternier F., et al. Current Spectrum of Infections in Patients with X-Linked Agammaglobulinemia. J Clin Immunol. – 2021. –Aug; 41(6). – P. 1266-1271
  18. Shillitoe B.M.J., Gennery A.R. An update on X-Linked agammaglobulinaemia: clinical manifestations and management. Curr Opin Allergy Clin Immunol. –2019. – Dec;19(6). – P. 571-577
  19. Ma C.S., Tangye S.G. Flow Cytometric-Based Analysis of Defects in Lymphocyte Differentiation and Function Due to Inborn Errors of Immunity. Front Immunol. – 2019. – 10.
  20. Першин Д.Е., Лодоева О.Б., Фадеева М.С., Мерсиянова И.В., Хорева А.Л., Владимиров И.С., и соавт. Разработка метода диагностики синдрома Вискотта–Олдрича путем оценки экспрессии белка WASP
  21. с использованием проточной цитофлуориметрии. Вопросы гематологии/онкологии и иммунопатологии в педиатрии. – 2020. – 19 (2). – P. 141–151.
  22. Milito C., Pulvirenti F., Cinetto F., Lougaris V., Soresina A., Pecoraro A., et al. Double-blind, placebo-controlled, randomized trial on low-dose azithromycin prophylaxis in patiens with primary antibody deficiencies // J Allergy Clin Immunol. – 2019. – Vol.144, No 2.
  23. Swaminathan V., Uppuluri R., Patel S., Melarcode Ramanan K., Ravichandran N., Jayakumar I., et al. Treosulfan-based reduced toxicity hematopoietic stem cell transplantation in X-linked agammaglobulinemia: A cost-effective alternative to long-term immunoglobulin replacement in developing countries. Pediatr Transplant. – 2020. – Vol. 24, No 1. – E. 13625.
  24. Мухина А. А., Кузьменко Н.Б., Родина Ю.А., Кондратенко И.В., Бологов А.А., Латышева Т.В. и соавт. Характеристика пациентов с первичными иммунодефицитными состояниями в Российской Федерации: от рождения до старости. Педиатрия. – 2019. – Т. 98, No 3. – С. 24-31.
  25. Корсунский И. А. Ранняя диагностика иммунодефицитных состояний у детей: клинические и лабораторные аспекты. Диссертация на соискание ученой степени д.м.н. – 2019 г.

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Copyright (c) 2023 Mgdsyan E.K., Yukhacheva D.V., Malakhova E.A., Pershin D.E., Kieva A.M., Raikina E.V., Kondratieva N.M., Alekseeva E.I., Rodina Y.A., Shcherbina A.Y.

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