Successful management of delayed-onset adenosine deaminase deficiency with novel mutation
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Date
2024
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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. © 2023 Future Medicine Ltd.
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Keywords
Adenosine Deaminase , Child, Preschool , Glucose , Humans , Male , Mutation , Oxidoreductases , Phosphates , Severe combined immunodeficiency due to adenosine deaminase deficiency , adenine , adenosine , adenosine deaminase , arginine , BCG vaccine , busulfan , cotrimoxazole , cysteine , cytosine , deoxyadenosine , elapegademase , fludarabine , glucose 6 phosphate dehydrogenase , guanine , hemagglutinin , hemoglobin , immunoglobulin , immunoglobulin antibody , immunoglobulin E , immunoglobulin G , immunoglobulin M , levothyroxine , methylprednisolone , prednisone , purine nucleoside phosphorylase , serine , thiotepa , thymine , thymocyte antibody , tryptophan , adenosine deaminase , glucose , oxidoreductase , phosphate , ADA gene , adenosine deaminase deficiency , anemia , antibody titer , Article , autoimmunity , B lymphocyte , BCG vaccination , bone marrow aspiration , bone marrow transplantation , bronchiolitis , case report , CD25+ T lymphocyte , CD3+ T lymphocyte , CD4+ T lymphocyte , chickenpox , child , chimera , clinical article , Coombs test , Cytomegalovirus , diaper dermatitis , disease severity , dried blood spot testing , engraftment , enzyme replacement , Epstein Barr virus , erythrocyte transfusion , father , fever , flow cytometry , follow up , G6PD gene , gene , gene mutation , gene sequence , genetic variability , Hashimoto disease , hearing impairment , hematopoietic stem cell transplantation , hemizygote , hemoglobinuria , hemolysis , hemolytic anemia , hepatosplenomegaly , heterozygote , high throughput sequencing , hospital admission , human , immunoglobulin blood level , immunoglobulin deficiency , immunophenotyping , leukocyte , leukocyte count , lymphocyte , lymphocytopenia , male , matched unrelated donor , medical history , metabolite , missense mutation , mother , natural killer cell , neutrophil , nonhuman , onset age , pallor , pathogenesis , patient referral , physical examination , preschool child , prescription , prognosis , rash , recurrent disease , reduced intensity conditioning , regulatory T lymphocyte , segregation analysis , serology , stem cell transplantation , thrombocyte , Toxoplasma , tuberculin test , urticarial rash , genetics , mutation