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Successful management of delayed-onset adenosine deaminase deficiency with novel mutation
Figen Çelebi Çelik1, Özgen Soyöz1, Selime Özen Bölük1
1University of Health Sciences, Izmir Faculty of Medicine, Dr. Behcet Uz Pediatric Diseases & Surgery Training & Research Hospital, Department of Pediatric Allergy & Immunology, Izmir, Turkey.
Insights
A boy with autoimmune cytopenia and novel ADA gene mutations experienced a cure with enzyme replacement and stem cell transplant. His glucose 6-phosphate dehydrogenase deficiency also recovered post-transplant.
Area of Science:
- Immunology
- Genetics
- Pediatrics
Background:
- Severe autoimmune cytopenia, lymphopenia, autoimmune thyroiditis, elevated IgE, and G6PD deficiency presented in a 4-year-old boy.
- Immunologic evaluation revealed decreased T, B, and NK cells, alongside elevated adenosine deaminase (ADA) metabolites.
Observation:
- Novel compound heterozygous ADA gene mutations were identified as the cause of ADA deficiency.
- The patient had no consanguinity, making the novel mutations noteworthy.
Findings:
- Enzyme replacement therapy (ERT) and reduced-intensity conditioning hematopoietic stem cell transplantation (HSCT) from a matched unrelated donor led to immunologic and metabolic cure.
- A secondary outcome was the recovery of glucose-6-phosphate dehydrogenase deficiency following HSCT.
Implications:
- This case highlights successful treatment of ADA deficiency with ERT and HSCT.
- The unexpected recovery of G6PD deficiency suggests potential cross-regulatory mechanisms or stem cell engraftment effects.
Abstract:
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.
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