Leukocyte Adhesion Deficiency Type 1 Due to Novel ITGB2 Mutation

Aim Marked neutrophilia and omphalitis in an infant resulted in the diagnosis of the first case of leukocyte adhesion deficiency type 1 (LAD1) in Ireland. Diagnosis LAD1 requires specific molecular diagnostics for its correct identification. Results Early identification of this disorder allowed for rapid referral for haemotopoeitic stem cell transplant which has resulted in an excellent outcome for this patient. Conclusion The identification of a previously unknown ITGB2 mutation resulting in LAD1 in Ireland should alert physicians to the diagnostic possibility of this extremely rare disorder.