AUTOINFLAMMATORY DISEASES IN HEMATOLOGY FROM DIAGNOSIS TO TREATMENT

AUTOINFLAMMATORY_DISEASES_IN_HEMATOLOGY_FROM_DIAGNOSIS_TO_TREATMENTkapak

ALLOGENEIC DONOR SELECTION

İlknur Nizam Özen

Antalya Training and Research Hospital, Department of Hematology, Antalya, Türkiye

Nizam Özen İ. Allogeneic Donor Selection. In: Kurt Yüksel M, editor. Autoinflammatory Diseases in Hematology from Diagnosis to Treatment. 1st ed. Ankara: Türkiye Klinikleri; 2025. p.235-239.

ABSTRACT

EPrimary immune regulatory disorders (PIRDs) are a distinctive group of diseases which are inborn errors of immunity. They present with lymphoproliferation, autoimmunity, autoinflammation, and malignancy and all of these are signs of dysregulation of the immune system. Infections are inevitable consequences of these manifestations. PIRDs consist of systemic autoinflammatory diseases (AIDs), autoimmune lymphoproliferative syndrome (ALPS), and common variable immunodeficiency (CVID). Most of the AIDs are monogenic diseases, and the mutations in genes are responsible for the inflammatory process. First comprehensive survey of HSCT in PIRDs patients was published at 2020 by Chan et al. The survey consisted of 226 patients with PIRDs who underwent allo-HSCT from 1982 to 2017. Of all patients, 76% had gene defects. Only four patients with a well defined AID were included. Two patients had adenosine deaminase 2 deficiency (DADA2), one patient presented with a mevalonate kinase (MVK) mutation and one patient had a PSTPIP1 mutation. Two patients could reach complete remission after HSCT. When conventional immunosuppressive therapeutic options fail to control the disease, HSCT in AIDs may have an important role to achieve sufficient control of the disease. HSCT is most effective when there is an hematopoetic involvement. Unfortunately, the experience about HSCT mostly rely on case reports for many AIDS. To reach consensus on the convenient choice of conditioning regimen, donors and sufficient level of donor chimerism, further studies should be performed.

Keywords: Deficiency of adenosine deaminase 2; GATA2 deficiency; Lymphohistiocytosis, hemophagocytic; Transplantation, homologous

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