Infantile Pure Red Cell Aplasia Secondary to Deficiency of Adenosine Deaminase2 (DADA2) Syndrome—Time to Think Beyond Diamond Blackfan Anemia

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.

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Publication Details

Journal
Pediatric Blood & Cancer
Published
2025-03-17
DOI
https://doi.org/10.1002/pbc.31656
Primary Topic
Adenosine and Purinergic Signaling
Type
article
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article

Infantile Pure Red Cell Aplasia Secondary to Deficiency of Adenosine Deaminase2 (DADA2) Syndrome—Time to Think Beyond Diamond Blackfan Anemia

Swapnil Tripathi, Mukul Aggarwal, Narendra Kumar Bagri, Renjith Verghese et al.
Pediatric Blood & Cancer
Adenosine and Purinergic Signaling
article

Infantile Pure Red Cell Aplasia Secondary to Deficiency of Adenosine Deaminase2 (DADA2) Syndrome—Time to Think Beyond Diamond Blackfan Anemia

Swapnil Tripathi, Mukul Aggarwal, Narendra Kumar Bagri, Renjith Verghese, Amiya Ranjan Nayak, Jasmita Dass, Tulika Seth, Rishi Dhawan, Pratyusha Gudapati, Pradeep Kumar, Ganesh Kumar Viswanathan, Richa Chauhan, Manoranjan Mahapatra, Himil Parikh
article en

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.

Pediatric Blood & CancerVol. 72(6)
Southern Command Hospital (IN), All India Institute of Medical Sciences (IN)
Good health and well-being
Openalex Percentile: Top 94%
Adenosine and Purinergic Signaling
DOIOpen Access PDFOpenAlex
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Infantile Pure Red Cell Aplasia Secondary to Deficiency of Adenosine Deaminase2 (DADA2) Syndrome—Time to Think Beyond Diamond Blackfan Anemia — Swapnil Tripathi, Mukul Aggarwal, et al. · Pediatric Blood & Cancer (2025) | TGRS Research Map | TGRS