Rare Disease & the Difficult and Complicated Disease

Cord blood transplantation in leukocyte adhesion deficiency type-1: a case report with 4 years follow-up

  • Jiao CHEN ,
  • Zhouyang LIU ,
  • Shifen FAN ,
  • Fan JIANG ,
  • Zhixin JIANG ,
  • Yuan SUN
Expand
  • Beijing Jingdu Children’s Hospital, Beijing 102208, China

Received date: 2021-04-14

  Online published: 2022-07-08

Abstract

Leukocyte adhesion deficiency type-1 (LAD-1) is a primary immunodeficiency disease. It is caused by mutations in the ITGB2 gene that cause damage to leukocyte adhesion. It is characterized by recurrent infections, delayed detachment of the umbilical cord, impaired wound healing and leukocytosis. It can be cured by allogeneic hematopoietic stem cell transplantation. The patient was a boy. He started to have recurrent fever, pneumonia and enteritis at 1 month old. He was diagnosed as LAD-1 based on markedly elevated leukocyte counts and ITGB2 gene homozygous mutation. He was cured after undergoing cord blood transplantation at 6.5 months old. Umbilical cord blood stem cell transplantation is a safe and effective method to cure LAD-1.

Cite this article

Jiao CHEN , Zhouyang LIU , Shifen FAN , Fan JIANG , Zhixin JIANG , Yuan SUN . Cord blood transplantation in leukocyte adhesion deficiency type-1: a case report with 4 years follow-up[J]. Journal of Clinical Pediatrics, 2022 , 40(7) : 545 -549 . DOI: 10.12372/jcp.2022.21e0551

References

[1] Chakraborty S, Gupta D, Thakral D, et al. Successful reconstitution of leukocyte adhesion defect after umbilical cord blood stem cell transplant[J]. Centr Eur J Immunol, 2020, 45(1): 117-121.
[2] Das J, Sharma A, Jindal A, et al. Leukocyte adhesion defect: Where do we stand circa 2019?[J]. Genes Dis, 2019, 7(1): 107-114.
[3] Justiz Vaillant AA, Ahmad F. Leukocyte adhesion deficiency[M]. StatPearlsInternet, Treasure Island (FL): StatPearls Publishing, 2021.
[4] 栾佐, 肖佩芳. 儿童恶性血液病脐带血移植专家共识[J]. 中华儿科杂志, 2016, 54: 804-807.
[5] Qian X, Wang P, Wang H, et al. Successful umbilical cord blood transplantation in children with leukocyte adhesion deficiency type I[J]. Transl Pediatr, 2020, 9(1): 34-42.
[6] Przepiorka D, Weisdorf D, Martin P, et al. 1994 Consensus Conference on Acute GVHD Grading[J]. Bone Marrow Transplant, 1995, 15(6): 825-828.
[7] Martin PJ, Lee SJ, Przepiorka D, et al. National Institutes of Health Consensus Development Project on Criteria for Clinical Trials in Chronic Graft-versus-Host Disease: VI. The 2014 Clinical Trial Design Working Group Report[J]. Biol Blood Marrow Transplant, 2015, 21(8): 1343-1359.
[8] 陈同辛. 白细胞黏附缺陷的诊断和治疗[J]. 中华儿科杂志, 2012, 50: 62-64.
[9] 林毅, 郑红英, 咸雨蔚, 等. ITGB2新发突变致白细胞黏附分子缺陷病的致病机制研究[J]. 中华儿科杂志, 2018, 56: 617-622.
[10] Bauer TR, Tuschong LM, Calvo KR, et al. Long-term follow-up of foamy viral ector-mediated gene therapy for canine leukocyte adhesion deficiency[J]. Mol Ther, 2013, 21(5): 964-972.
[11] Hajishengallis G, Moutsopoulos NM. Etiology of leukocyte adhesion eficiency-associated periodontitis revisited: not a raging infection but a raging inflammatory response[J]. Expert Rev Clin Immunol, 2014, 10(8): 973-975.
[12] Moutsopoulos NM, Zerbe CS, Wild T, et al. Interleukin-12 and interleukin-23 blockade in leukocyte adhesion deficiency type 1[J]. N Engl J Med, 2017, 376(12): 1141-1146.
[13] 李黎, 周丽娜, 赵晓东, 等. 1例ITGB2基因突变致白细胞黏附分子缺陷病Ⅰ型患儿临床分子特征分析[J]. 免疫学杂志, 2021, 37: 719-725.
[14] 汪涛, 蒋利萍, 高红, 等. 1例白细胞黏附分子缺陷病Ⅰ型的临床及分子特征分析[J]. 免疫学杂志, 2017, 33: 697-702.
[15] 孙松, 郑珊, 黄瑛, 等. 免疫缺陷伴发的炎症性肠病的临床特征及急诊外科治疗[J]. 中华小儿外科杂志, 2019, 40: 707-712.
[16] Almarza Novoa E, Kasbekar S, Thrasher AJ, et al. Leukocyte adhesion deficiency-I: a comprehensive review of all published cases[J]. J Allergy Clin Immunol Pract, 2018, 6(4): 1418-1420.
[17] Qasim W, Cavazzana-Calvo M, Davies EG, et al. Allogeneic hematopoietic stem-cell transplantation for leukocyte adhesion deficiency[J]. Pediatrics. 2009, 123(3): 836-840.
[18] Al-Dhekri H, Al-Mousa H, Ayas M, et al. Allogeneic hematopoietic stem cell transplantation in leukocyte adhesion deficiency type 1: a single center experience[J]. Biol Blood Marrow Transplant, 2011, 17(8): 1245-1249.
[19] Hamidieh AA, Pourpak Z, Hosseinzadeh M, et al. Reduced-intensity conditioning hematopoietic SCT for pediatric patients with LAD-1: clinical efficacy and importance of chimerism[J]. Bone Marrow Transplantation, 2012, 47(5): 646-650.
Outlines

/