Authors: Samiya Al Hashmi , Aysha Tahera , Khalid Al Ryiami , Abdullah Shahtta , Basim Abd El-Hady , Muna Al Alawi , Ali Al Jabri , Mujtaba Al AJmi , Requia Aljashmi , Aalya Al Maghari , Aisha Al Balushi

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.

Keywords: Autoinflammatory ,Pancytopenia, preterm neonate, DNASE2 gene.