Department of Paediatrics, Cork University Hospital, Cork, Republic of Ireland.
Department of Immunology, St James' Hospital, Dublin, Republic of Ireland.
Ir Med J. 2020 Jul 30;113(7):129.
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.
一名婴儿出现明显的中性粒细胞增多和脐炎，最终诊断为爱尔兰首例白细胞黏附缺陷 1 型（LAD1）。诊断 LAD1 需要特定的分子诊断才能正确识别。结果：早期识别该疾病可使患者迅速转介接受造血干细胞移植，这为该患者带来了极好的结果。结论：在爱尔兰发现一种先前未知的 ITGB2 突变导致 LAD1，这应该提醒医生注意这种极其罕见疾病的诊断可能性。
