eISSN: 1644-4124
ISSN: 1426-3912
Central European Journal of Immunology
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4/2023
vol. 48
 
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abstract:
Case report

Hematopoietic stem cell transplantation in a patient with activated phosphoinositide 3‑kinase δ syndrome: A case report and literature review

Mateusz P. Łyżwa
1
,
Karolina Kędziora
1
,
Natalia Kałamarz
1
,
Jowita Frączkiewicz
2
,
Anna Panasiuk
2
,
Joanna Owoc-Lempach
2
,
Barbara Piątosa
3
,
Marcin Hennig
4
,
Ninela Irga-Jaworska
4
,
Krzysztof Kałwak
2

  1. Wroclaw Medical University, Wroclaw, Poland
  2. Department of Pediatric Bone Marrow Transplantation, Oncology, and Hematology, Wroclaw Medical University, Wroclaw, Poland
  3. Histocompatibility Laboratory, Children’s Memorial Health Institute, Warsaw, Poland
  4. Department of Pediatric Hematology and Oncology, Medical University of Gdansk, Gdansk, Poland
Cent Eur J Immunol 2023; 48 (4): 350-357
DOI: https://doi.org/10.5114/ceji.2023.133949
Online publish date: 2023/12/21
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Activated phosphoinositide 3-kinase δ syndrome (APDS) is a recently described disease characterized by recurrent infections, lymphoproliferation with a high risk of malignancy, early-onset cytopenia, and a propensity for autoimmune diseases. Hematopoietic stem cell transplantation (HSCT) has proven to be an effective treatment method; however, the recovery process after HSCT is prolonged and accompanied by complications. In this study, we present the case of a patient with APDS type 1. Despite showing signs of immunodeficiency at the age of 6 months, it took almost 6 years to reach a definitive diagnosis. The patient experienced recurrent infections, often accompanied by anemia requiring transfusions, and multifocal nonmalignant lymphoproliferation. Only after receiving the appropriate diagnosis was it possible to implement proper and accurate treatment. HSCT was performed when the patient was 6 years old, leading to significant improvement in his condition. At the 17-month post-HSCT follow-up, the boy is asymptomatic and in good general health, although close monitoring continues due to mixed chimerism and delayed humoral immune recovery. Applying HSCT before the patient develops malignancy contributes to expanding the use of HSCT as a treatment option for APDS type 1.
keywords:

primary immunodeficiency, hematopoietic stem cell transplantation, activated phosphoinositide 3-kinase δ syndrome, nonmalignant lymphoproliferation
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