A fatal yet salvageable inborn error – leukocyte adhesion deficiency

Praveen Jhanwar, A. Kawalkar, Pragya Singh
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Abstract

Leukocyte adhesion deficiency (LAD) Type 1 is a rare inborn error in infants characterized by delayed umbilical cord detachment, non-healing ulcers, and leukocytosis. Initially, knowledge of LAD was limited to the impairment of granulocyte function due to the scarcity of cases. However, as more and more cases are being reported, the knowledge of the bio-physiology of white blood cells, platelets, and various intercellular reactivity and signaling provides a new perception of this disease. We present a 17-day-old female child who presented with complaints of fever and redness in the perianal region and popliteal fossa. Investigations showed leukocytosis in blood and cerebrospinal fluid (CSF), raised C-Reactive Protein (CRP), and Pseudomonas-positive blood and CSF culture. Flow cytometry revealed the absence of CD18, CD11a, and CD11c. Aggressive antimicrobial agents were started; however, the baby died on day 30 of life. In this report, we emphasize the essential investigations needed for early diagnosis and effective precautions through which we can decrease the fatality rate of this rare disorder.
这是一种致命但可以挽救的先天缺陷——白细胞粘附缺陷
白细胞粘附缺乏症(LAD) 1型是一种罕见的婴儿先天性错误,其特征是延迟性脐带脱离,不愈合的溃疡和白细胞增多。最初,由于病例的缺乏,对LAD的认识仅限于粒细胞功能的损害。然而,随着越来越多的病例被报道,对白细胞、血小板和各种细胞间反应和信号传导的生物生理学知识提供了对这种疾病的新认识。我们提出一个17天的女儿童谁提出的投诉发烧和发红在肛周区域和腘窝。调查显示血液和脑脊液(CSF)白细胞增多,c反应蛋白(CRP)升高,血液和CSF培养假单胞菌阳性。流式细胞术显示CD18、CD11a和CD11c缺失。开始使用强力抗菌药物;然而,这名婴儿在出生后的第30天死亡。在本报告中,我们强调早期诊断和有效预防所需的基本调查,通过这些调查,我们可以降低这种罕见疾病的死亡率。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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