{"title":"Infantile Pure Red Cell Aplasia Secondary to Deficiency of Adenosine Deaminase2 (DADA2) Syndrome-Time to Think Beyond Diamond Blackfan Anemia.","authors":"Amiya Ranjan Nayak, Jasmita Dass, Himil Parikh, Swapnil Tripathi, Pratyusha Gudapati, Renjith Verghese, Richa Chauhan, Ganesh Kumar Viswanathan, Pradeep Kumar, Rishi Dhawan, Tulika Seth, Manoranjan Mahapatra, Narendra Kumar Bagri, Mukul Aggarwal","doi":"10.1002/pbc.31656","DOIUrl":null,"url":null,"abstract":"<p><p>Deficiency of adenosine deaminase 2 (DADA2) is a rare autosomal recessive disorder characterized by vasculopathy, immunodeficiency, and hematological abnormalities. Its presentation as infantile pure red cell aplasia (PRCA) often mimics Diamond Blackfan anemia (DBA), leading to diagnostic delays and suboptimal management. This study retrospectively analyzed nine cases of DADA2-related PRCA diagnosed over 5 years at a tertiary care hospital. All patients harbored homozygous ADA2 mutations, predominantly p.Ile93Thr, and presented with severe anemia and reticulocytopenia. Misdiagnosed initially as DBA, none responded to steroid therapy. Our findings emphasize the need for comprehensive genetic analysis in PRCA to distinguish DADA2 from DBA for appropriate treatment.</p>","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":" ","pages":"e31656"},"PeriodicalIF":2.4000,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Pediatric Blood & Cancer","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1002/pbc.31656","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"HEMATOLOGY","Score":null,"Total":0}
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Abstract
Deficiency of adenosine deaminase 2 (DADA2) is a rare autosomal recessive disorder characterized by vasculopathy, immunodeficiency, and hematological abnormalities. Its presentation as infantile pure red cell aplasia (PRCA) often mimics Diamond Blackfan anemia (DBA), leading to diagnostic delays and suboptimal management. This study retrospectively analyzed nine cases of DADA2-related PRCA diagnosed over 5 years at a tertiary care hospital. All patients harbored homozygous ADA2 mutations, predominantly p.Ile93Thr, and presented with severe anemia and reticulocytopenia. Misdiagnosed initially as DBA, none responded to steroid therapy. Our findings emphasize the need for comprehensive genetic analysis in PRCA to distinguish DADA2 from DBA for appropriate treatment.
期刊介绍：
Pediatric Blood & Cancer publishes the highest quality manuscripts describing basic and clinical investigations of blood disorders and malignant diseases of childhood including diagnosis, treatment, epidemiology, etiology, biology, and molecular and clinical genetics of these diseases as they affect children, adolescents, and young adults. Pediatric Blood & Cancer will also include studies on such treatment options as hematopoietic stem cell transplantation, immunology, and gene therapy.
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