Abstract Severe combined immunodeficiency (SCID) encompasses a group of inherited disorders characterized by defective T- and B-cell development, leading to life-threatening infections early in infancy. Reticular dysgenesis (RD) is a rare and severe form of SCID caused by mutations in the AK2 gene, resulting in profound neutropenia and lymphopenia. Affected infants are highly susceptible to viral, fungal, and early-onset severe bacterial infections. We report the case of a 3-month-old male infant who presented with fever, multiple skin lesions, and respiratory distress, initially appearing around the 20 th day of life. Despite prolonged empirical treatment at an outside facility, the skin lesions progressed to necrotic ulcers resembling pyoderma gangrenosum. Laboratory investigations revealed persistent neutropenia, lymphopenia, and hypogammaglobulinemia. Whole exome sequencing confirmed a pathogenic AK2 mutation consistent with RD. Although there was a transient improvement with antimicrobial therapy and intravenous immunoglobulin, the infant eventually succumbed to overwhelming sepsis. This case highlights the importance of early recognition, genetic confirmation, and timely referral for hematopoietic stem cell transplantation in rare immunodeficiency syndromes like RD.
Naik et al. (Tue,) studied this question.