Long-term management of leukocyte adhesion deficiency type III without hematopoietic stem cell transplantation.
作者信息
Saultier Paul, Szepetowski Sarah, Canault Matthias, Falaise Céline, Poggi Marjorie, Suchon Pierre, Barlogis Vincent, Michel Gérard, Loyau Stéphane, Jandrot-Perrus Martine, Bordet Jean-Claude, Alessi Marie-Christine, Chambost Hervé
机构信息
APHM, La Timone Children's Hospital, Department of pediatric hematology and oncology, Marseille, France
Aix Marseille Univ, INSERM, INRA, C2VN, France.
出版信息
Haematologica. 2018 Jun;103(6):e264-e267. doi: 10.3324/haematol.2017.186304. Epub 2018 Feb 22.
Abstract
摘要
相似文献
1
Long-term management of leukocyte adhesion deficiency type III without hematopoietic stem cell transplantation.不进行造血干细胞移植的III型白细胞黏附缺陷的长期管理。
Haematologica. 2018 Jun;103(6):e264-e267. doi: 10.3324/haematol.2017.186304. Epub 2018 Feb 22.
2
Leukocyte adhesion deficiency type III: clinical features and treatment with stem cell transplantation.III型白细胞黏附缺陷症：临床特征及干细胞移植治疗
J Pediatr Hematol Oncol. 2015 May;37(4):264-8. doi: 10.1097/MPH.0000000000000228.
3
Novel integrin-dependent platelet malfunction in siblings with leukocyte adhesion deficiency-III (LAD-III) caused by a point mutation in FERMT3.新型整合素依赖性血小板功能障碍在白细胞黏附缺陷 III 型（LAD-III）患者中，由 FERMT3 点突变引起。
Thromb Haemost. 2010 May;103(5):1053-64. doi: 10.1160/TH09-10-0689. Epub 2010 Mar 9.
4
Kindlin-3-independent adhesion of neutrophils from patients with leukocyte adhesion deficiency type III.III型白细胞黏附缺陷患者中性粒细胞的Kindlin-3非依赖性黏附
J Allergy Clin Immunol. 2014 Apr;133(4):1215-8. doi: 10.1016/j.jaci.2013.10.020. Epub 2013 Dec 15.
5
Successful hematopoietic stem cell transplant in leukocyte adhesion deficiency type III presenting primarily as malignant infantile osteopetrosis.白细胞黏附缺陷症 III 型患者主要表现为恶性婴儿骨硬化症，成功进行造血干细胞移植。
Clin Immunol. 2020 Apr;213:108365. doi: 10.1016/j.clim.2020.108365. Epub 2020 Feb 21.
6
Adaptive immune defects in a patient with leukocyte adhesion deficiency type III with a novel mutation in FERMT3.一名患有III型白细胞黏附缺陷且FERMT3基因有新突变患者的适应性免疫缺陷
Pediatr Allergy Immunol. 2016 Mar;27(2):214-7. doi: 10.1111/pai.12485. Epub 2015 Oct 22.
7
Highlighting the problematic reliance on CD18 for diagnosing leukocyte adhesion deficiency type 1.强调了在诊断1型白细胞黏附缺陷症时对CD18的问题性依赖。
Immunol Res. 2016 Apr;64(2):476-82. doi: 10.1007/s12026-015-8706-5.
8
A new mutation in the KINDLIN-3 gene ablates integrin-dependent leukocyte, platelet, and osteoclast function in a patient with leukocyte adhesion deficiency-III.KINDLIN-3基因的一种新突变使白细胞黏附缺陷III型患者的整合素依赖性白细胞、血小板和破骨细胞功能丧失。
Pediatr Blood Cancer. 2015 Sep;62(9):1677-9. doi: 10.1002/pbc.25537. Epub 2015 Apr 8.
9
Genetics, biology and clinical management of myeloid cell primary immune deficiencies: chronic granulomatous disease and leukocyte adhesion deficiency.髓系细胞原发性免疫缺陷的遗传学、生物学及临床管理：慢性肉芽肿病和白细胞黏附缺陷
Curr Opin Hematol. 2007 Jan;14(1):29-36. doi: 10.1097/00062752-200701000-00007.
10
A novel leukocyte adhesion deficiency III variant: kindlin-3 deficiency results in integrin- and nonintegrin-related defects in different steps of leukocyte adhesion.一种新型白细胞黏附缺陷 III 型变异：连接蛋白-3 缺陷导致白细胞黏附中不同步骤的整合素和非整合素相关缺陷。
J Immunol. 2011 May 1;186(9):5273-83. doi: 10.4049/jimmunol.1003141. Epub 2011 Mar 25.
引用本文的文献
1
Leukocyte adhesion deficiency type III in an infant presenting with intestinal perforation and low percentage of natural killer cells: first case report from Iran.一名患有肠穿孔且自然杀伤细胞百分比低的婴儿的III型白细胞黏附缺陷症：伊朗首例病例报告
BMC Pediatr. 2025 Apr 22;25(1):315. doi: 10.1186/s12887-025-05674-w.
2
Case Report: Early diagnosis of LAD-III in newborn with persistent leukocytosis and hemangioma-like lesion of the urinary bladder.病例报告：新生儿LAD-III的早期诊断，伴有持续性白细胞增多和膀胱血管瘤样病变。
Front Pediatr. 2025 Mar 7;13:1550643. doi: 10.3389/fped.2025.1550643. eCollection 2025.
3
Integrins in Health and Disease-Suitable Targets for Treatment?整合素在健康与疾病中的作用——治疗的合适靶点？
Cells. 2024 Jan 23;13(3):212. doi: 10.3390/cells13030212.
4
LAD-III, a Mild Phenotype Resulting From a Novel Variant of FERMT3 Gene: A Case Report.III型赖利-戴综合征，一种由FERMT3基因新变异导致的轻型表型：病例报告
Cureus. 2023 Dec 25;15(12):e51062. doi: 10.7759/cureus.51062. eCollection 2023 Dec.
5
Novel and Mutations Associated with Leukocyte Adhesion Deficiency-III and Sensorineural Hearing Loss.与白细胞黏附缺陷III型和感音神经性听力损失相关的新突变
J Pediatr Genet. 2021 Aug 20;12(4):348-351. doi: 10.1055/s-0041-1733948. eCollection 2023 Dec.
6
Successful allogeneic stem cell transplantation with a reduced-intensity conditioning in a case of leukocyte adhesion deficiency type III.在一例III型白细胞黏附缺陷患者中采用减低剂量预处理成功进行异基因干细胞移植。
Hematol Transfus Cell Ther. 2024 Jul-Sep;46(3):300-302. doi: 10.1016/j.htct.2022.01.007. Epub 2022 Feb 15.
7
Case Report: A Case of Leukocyte Adhesion Deficiency, Type III Presenting With Impaired Platelet Function, Lymphocytosis and Granulocytosis.病例报告：一例伴有血小板功能受损、淋巴细胞增多和粒细胞增多的III型白细胞黏附缺陷症病例。
Front Pediatr. 2021 Aug 16;9:713921. doi: 10.3389/fped.2021.713921. eCollection 2021.
8
Allogeneic hematopoietic stem cell transplantation in leukocyte adhesion deficiency type I and III.I型和III型白细胞黏附缺陷症的异基因造血干细胞移植
Blood Adv. 2021 Jan 12;5(1):262-273. doi: 10.1182/bloodadvances.2020002185.
9
Higher Incidence of B Cell Malignancies in Primary Immunodeficiencies: A Combination of Intrinsic Genomic Instability and Exocytosis Defects at the Immunological Synapse.原发性免疫缺陷中 B 细胞恶性肿瘤发病率较高：免疫突触处的固有基因组不稳定性和胞吐缺陷的综合作用。
Front Immunol. 2020 Nov 9;11:581119. doi: 10.3389/fimmu.2020.581119. eCollection 2020.
10
Primary Immunodeficiencies With Defects in Innate Immunity: Focus on Orofacial Manifestations.原发性先天性免疫缺陷病：关注口腔表现。
Front Immunol. 2020 Jun 18;11:1065. doi: 10.3389/fimmu.2020.01065. eCollection 2020.
本文引用的文献
1
Procoagulant platelets: generation, function, and therapeutic targeting in thrombosis.促凝血小板：血栓形成中的生成、功能和治疗靶点。
Blood. 2017 Nov 16;130(20):2171-2179. doi: 10.1182/blood-2017-05-787259. Epub 2017 Sep 27.
2
Macrothrombocytopenia and dense granule deficiency associated with FLI1 variants: ultrastructural and pathogenic features.与FLI1变异相关的巨血小板减少症和致密颗粒缺乏：超微结构和致病特征
Haematologica. 2017 Jun;102(6):1006-1016. doi: 10.3324/haematol.2016.153577. Epub 2017 Mar 2.
3
New Insights Into the Treatment of Glanzmann Thrombasthenia.对血小板无力症治疗的新见解
Transfus Med Rev. 2016 Apr;30(2):92-9. doi: 10.1016/j.tmrv.2016.01.001. Epub 2016 Jan 30.
4
Adaptive immune defects in a patient with leukocyte adhesion deficiency type III with a novel mutation in FERMT3.一名患有III型白细胞黏附缺陷且FERMT3基因有新突变患者的适应性免疫缺陷
Pediatr Allergy Immunol. 2016 Mar;27(2):214-7. doi: 10.1111/pai.12485. Epub 2015 Oct 22.
5
Eptacog alfa activated: a recombinant product to treat rare congenital bleeding disorders.活化依普他肽：一种用于治疗罕见先天性出血性疾病的重组产品。
Blood Rev. 2015 Jun;29 Suppl 1:S26-33. doi: 10.1016/S0268-960X(15)30005-9.
6
Platelet glycoprotein VI binds to polymerized fibrin and promotes thrombin generation.血小板糖蛋白 VI 结合于聚合纤维蛋白并促进凝血酶生成。
Blood. 2015 Jul 30;126(5):683-91. doi: 10.1182/blood-2015-02-629717. Epub 2015 May 14.
7
Leukocyte adhesion deficiency III - when integrins activation fails.白细胞黏附缺陷III型——整合素激活失败时的情况。
J Clin Immunol. 2014 Nov;34(8):900-3. doi: 10.1007/s10875-014-0094-4. Epub 2014 Sep 20.
8
Reduced-intensity conditioning for allogeneic stem cell transplant in primary immune deficiencies.原发性免疫缺陷病的异基因造血干细胞移植的低强度预处理方案。
Expert Rev Clin Immunol. 2012 Mar;8(3):255-66; quiz 267. doi: 10.1586/eci.12.9.
9
A novel leukocyte adhesion deficiency III variant: kindlin-3 deficiency results in integrin- and nonintegrin-related defects in different steps of leukocyte adhesion.一种新型白细胞黏附缺陷 III 型变异：连接蛋白-3 缺陷导致白细胞黏附中不同步骤的整合素和非整合素相关缺陷。
J Immunol. 2011 May 1;186(9):5273-83. doi: 10.4049/jimmunol.1003141. Epub 2011 Mar 25.
10
LAD-1/variant syndrome is caused by mutations in FERMT3.LAD-1/变异综合征由FERMT3基因突变引起。
Blood. 2009 May 7;113(19):4740-6. doi: 10.1182/blood-2008-10-182154. Epub 2008 Dec 8.
Zotero 插件