Abstract Leukocyte Adhesion Deficiency type 1 (LAD-1) is a rare autosomal recessive primary immunodeficiency caused by mutations in the ITGB2 gene, leading to defective neutrophil adhesion and migration. We report a case of a neonate presenting with severe skin infections, omphalitis, ecthyma gangrenosum, and anemia in the context of LAD-1. This case underscores the need for vigilant monitoring, aggressive management, and parental counselling in rare immunodeficiency disorders. A 42-day-old female infant, born full-term via normal delivery, presented with widespread skin ulcerations, omphalitis, fever, and lethargy. On admission to AIIMS Rajkot, patient had multiple necrotic skin lesions, including periumbilical erythema involvement, temporal and retro auricular ulcers, and circumferential neck ulcerations with evidence of secondary bacterial infection. Initial possibility of Inborn error of immunity likely Leukocyte adhesion defect or congenital neutrophil dysfunction was kept. On evaluation total leucocyte count of 189,860 with elevated inflammatory markers CRP 351mg/L ESR 100. Started on empirical broad-spectrum antibiotics, later tailored to sensitivities based on culture results from Klebsiella pneumoniae and Pseudomonas aeruginosa. After this flow cytometry was done which revealed significantly reduced CD18 0.12% and CD11a 0.48% expression on neutrophils, confirming LAD-1. Genetic analysis was done for definitive diagnosis, which showed mutations in the ITGB2 gene c.897 + 1GA homozygous. Antifungal prophylaxis with itraconazole was initiated, and wound care was optimized with daily dressing and topical antibiotics. Serial wound care resulted in marked improvement at discharge, with reduced lesion size and inflammation. After 3 month developed persistent breathing difficulty, anemia, hepatosplenomegaly for which admitted. Possibility of Cytomegalovirus infection, Pneumocystis jiroveci was kept. Bronchoalveolar lavage was done which reveal DNA PCR for Cytomegalovirus 92,200 copies/ml. Patient was started on injection ganciclovir followed by oral valganciclovir. After 4 weeks of treatment respiratory distress improved and able to discharge. Nutritional counselling and breastfeeding support contributed to improved weight gain. Parental education was provided regarding disease progression, potential complications, and the necessity of hematopoietic stem cell transplantation for definitive treatment. This case highlights the critical role of early recognition of associated complication and comprehensive management in neonates with primary immunodeficiency. Multidisciplinary care involving infectious disease specialists, dermatologists, pediatricians, and surgeons is essential for stabilizing patients and preventing life-threatening complications. Moreover, this case illustrates the importance of genetic evaluation for accurate diagnosis and long-term planning. PBy documenting such cases, we aim to enhance clinical awareness and contribute to the growing body of knowledge on rare immunodeficiency disorders. This abstract is funded by: Nil
Singh et al. (Fri,) studied this question.