Successful management of delayed-onset adenosine deaminase deficiency with novel mutation
Personalized Medicine, cilt.21, sa.1, ss.11-19, 2024 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 21 Sayı: 1
- Basım Tarihi: 2024
- Doi Numarası: 10.2217/pme-2023-0111
- Dergi Adı: Personalized Medicine
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.11-19
- Anahtar Kelimeler: adenosine deaminase deficiency, delayed onset, enzyme replacement therapy, hematopoietic stem cell transplantation, late onset, severe combined immunodeficiency
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
A 4-year-old boy presented with acute-onset autoimmune cytopenia with severe, persistent lymphopenia, autoimmune thyroiditis, elevated IgE and glucose 6-phosphate dehydrogenase enzyme deficiency. In immunologic evaluation, lower T, B and natural killer cells and higher levels of adenosine deaminase (ADA) metabolites were observed. The compound heterozygous novel ADA gene mutations causing ADA deficiency were detected. Successful immunologic and metabolic cure was achieved with enzyme replacement therapy, followed by reduced intensity conditioning hematopoietic stem cell transplantation from a matched unrelated donor. An interesting aspect of this patient is the detection of novel compound heterozygous mutations without consanguinity and a secondary outcome is the recovery of glucose 6-phosphate dehydrogenase deficiency after hematopoietic stem cell transplantation.