Expanding the genetic spectrum of DNASE2 variants in the Middle East: first case of neonatal-onset autoinflammatory pancytopenia syndrome from Oman
Year: 2025
Type: article
Study design: Case Report
Abstract: Background: The autoinflammatory pancytopenia syndrome (AIPCS) is a rare autosomal recessive disease caused by a mutation in the DNASE2 gene that is characterized by severe anemia, thrombocytopenia, hepatosplenomegaly, and recurrent fevers. Case Presentation: A case of a preterm female neonate born at 30 + 1 weeks by emergency cesarean section of consanguineous parents was presented, with subsequent antenatal findings of intrauterine growth restriction, fetal anemia, and hypertrophic cardiomyopathy. Postnatal evolution was conducted during admission to neonatal intensive care, with features of apnea, respiratory distress syndrome, persistent pancytopenia, and progressive hepatosplenomegaly. Laboratory and radiology findings indicated that a metabolic and genetic cause was likely, with suspicion raised of an interferon-mediated inflammation disorder. A genetic evaluation by whole exome sequencing showed a compound heterozygous DNASE2 variant of uncertain significance (141_142del (p.Gly48AlafsTer49) and c.2T>C (p.Met1)). Ruxolitinib, a JAK inhibitor, was initially offered and later deferred due to prematurity and low birthweight, which started at the age of 5 months. Conclusion: A rare genetic disease causing early-onset systemic autoinflammatory disease due to DNASE2 mutation was identified. This study emphasized the importance of early detection and the establishment of genetic diagnostic methods for severe, multisystem, idiopathic neonatal inflammatory syndromes to prevent the progression of disease.
Institution: Royal Hospital
Language: English
Subfield: Immunology
Field: Immunology and Microbiology
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W7129055832
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