Çelik F.Ç.Soyöz Ö.Bölük S.Ö.Taşklrdl I.Hacl I.A.Kaya M.A.Demir A.Uzunoǧlu B.Ylldlrlm A.T.Onay H.Gözmen S.Gülez N.Genel F.2024-07-222024-07-22202417410541http://akademikarsiv.cbu.edu.tr:4000/handle/123456789/11641A 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.EnglishAdenosine DeaminaseChild, PreschoolGlucoseHumansMaleMutationOxidoreductasesPhosphatesSevere combined immunodeficiency due to adenosine deaminase deficiencyadenineadenosineadenosine deaminasearginineBCG vaccinebusulfancotrimoxazolecysteinecytosinedeoxyadenosineelapegademasefludarabineglucose 6 phosphate dehydrogenaseguaninehemagglutininhemoglobinimmunoglobulinimmunoglobulin antibodyimmunoglobulin Eimmunoglobulin Gimmunoglobulin Mlevothyroxinemethylprednisoloneprednisonepurine nucleoside phosphorylaseserinethiotepathyminethymocyte antibodytryptophanadenosine deaminaseglucoseoxidoreductasephosphateADA geneadenosine deaminase deficiencyanemiaantibody titerArticleautoimmunityB lymphocyteBCG vaccinationbone marrow aspirationbone marrow transplantationbronchiolitiscase reportCD25+ T lymphocyteCD3+ T lymphocyteCD4+ T lymphocytechickenpoxchildchimeraclinical articleCoombs testCytomegalovirusdiaper dermatitisdisease severitydried blood spot testingengraftmentenzyme replacementEpstein Barr viruserythrocyte transfusionfatherfeverflow cytometryfollow upG6PD genegenegene mutationgene sequencegenetic variabilityHashimoto diseasehearing impairmenthematopoietic stem cell transplantationhemizygotehemoglobinuriahemolysishemolytic anemiahepatosplenomegalyheterozygotehigh throughput sequencinghospital admissionhumanimmunoglobulin blood levelimmunoglobulin deficiencyimmunophenotypingleukocyteleukocyte countlymphocytelymphocytopeniamalematched unrelated donormedical historymetabolitemissense mutationmothernatural killer cellneutrophilnonhumanonset agepallorpathogenesispatient referralphysical examinationpreschool childprescriptionprognosisrashrecurrent diseasereduced intensity conditioningregulatory T lymphocytesegregation analysisserologystem cell transplantationthrombocyteToxoplasmatuberculin testurticarial rashgeneticsmutationArticle10.2217/pme-2023-0111