Clinical and laboratory findings in patients with leukocyte adhesion deficiency type I: A multicenter study in Turkey,Clinical & Experimental Immunology

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Clinical and laboratory findings in patients with leukocyte adhesion deficiency type I: A multicenter study in Turkey
Clinical & Experimental Immunology ( IF 3.4 ) Pub Date : 2021-07-26 , DOI: 10.1111/cei.13645
Ismail Yaz ₁ , Begum Ozbek ₁ , Hacer Neslihan Bildik ₁ , Cagman Tan ₁ , Sevil Oskay Halacli ₁ , Elif Soyak Aytekin ₁ , Saliha Esenboga ₁ , Sukru Cekic ₂ , Sara Sebnem Kilic ₂ , Ozlem Keskin ₃ , Karin van Leeuwen ₄ , Dirk Roos ₄ , Deniz Cagdas ₁ , Ilhan Tezcan ₁

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Leukocyte adhesion deficiency type I is a rare primary immunodeficiency disorder characterized by mutations in the ITGB2 gene encoding CD18. We present clinical and immunological features of 15 patients with leukocyte adhesion deficiency type 1 (LAD-1). Targeted next-generation sequencing was performed with either a primary immunodeficiency gene panel comprising 266 genes or a small LAD-panel consisting of five genes for genetic analysis. To measure the expression level of integrins on the leukocyte surface, flow cytometry analysis was performed. The median age of the patients at diagnosis was 3 (1–48) months. Eleven (73%) of the 15 patients had a LAD-1 diagnosis in their first 6 months and 14 (93%) patients had consanguineous parents. Delayed separation of the umbilical cord was present in 80% (n = 12) of the patients in our cohort, whereas omphalitis was observed in 53% (n = 8) of the patients. Leukocytosis with neutrophil predominance was observed in 73% (n = 11) patients. Nine distinct variants in the ITGB2 gene in 13 of the 15 patients with LAD-1 were characterized, two of which (c.305_306delAA and c.779_786dup) are novel homozygous mutations of ITGB2. Four unrelated patients from Syria had a novel c.305_306delAA mutation that might be a founder effect for patients of Syrian origin. Four (27%) patients underwent hematopoietic stem cell transplantation. Two patients died because of HSCT complications and the other two are alive and well. Early differential diagnosis of the patients is critical in the management of the disease and genetic evaluation provides a basis for family studies and genetic counseling.

中文翻译：

I 型白细胞粘附缺陷患者的临床和实验室发现：土耳其的一项多中心研究

I 型白细胞粘附缺陷是一种罕见的原发性免疫缺陷病，其特征在于编码 CD18 的 ITGB2 基因发生突变。我们介绍了 15 名白细胞粘附缺陷 1 型 (LAD-1) 患者的临床和免疫学特征。使用包含 266 个基因的原发性免疫缺陷基因组或由五个基因组成的小型 LAD-panel 进行靶向下一代测序，用于遗传分析。为了测量白细胞表面整联蛋白的表达水平，进行了流式细胞术分析。诊断时患者的中位年龄为 3 (1-48) 个月。15 名患者中有 11 名 (73%) 在前 6 个月诊断为 LAD-1，14 名 (93%) 患者有近亲。80%（n = 12) 我们队列中的患者，而在 53% ( n = 8) 的患者中观察到脐炎。在 73% ( n = 11) 的患者中观察到以中性粒细胞为主的白细胞增多。在 15 名 LAD-1 患者中，有 13 名患者的ITGB2基因有九种不同的变异，其中两种（c.305_306delAA 和 c.779_786dup）是新的ITGB2纯合突变. 来自叙利亚的四名无关患者有一个新的 c.305_306delAA 突变，这可能是叙利亚血统患者的创始效应。四名（27%）患者接受了造血干细胞移植。两名患者因 HSCT 并发症而死亡，另外两名患者活得很好。患者的早期鉴别诊断对于疾病的管理至关重要，遗传评估为家庭研究和遗传咨询提供了基础。

更新日期：2021-09-17

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