PMID- 36353617 OWN - NLM STAT- MEDLINE DCOM- 20221111 LR - 20221222 IS - 1664-3224 (Electronic) IS - 1664-3224 (Linking) VI - 13 DP - 2022 TI - Case report: HLA-haploidentical hematopoietic cell transplant with posttransplant cyclophosphamide in a patient with leukocyte adhesion deficiency type I. PG - 1020362 LID - 10.3389/fimmu.2022.1020362 [doi] LID - 1020362 AB - Leukocyte adhesion deficiency type I (LAD-I) is a rare autosomal recessive inborn error of immunity (IEI) caused by the defects in CD18, encoded by the ITGB2 gene. LAD-I is characterized by defective leukocyte adhesion to the vascular endothelium and impaired migration of leukocytes. Allogeneic hematopoietic cell transplant (HCT) is the only curative treatment for LAD-I. In an absence of ideal donor for HCT, human leukocyte antigen (HLA)-haploidentical HCT is performed. Posttransplant cyclophosphamide (PT-CY) is a relatively new graft-versus-host disease (GVHD) prophylactic measure and has been increasingly used in HLA-haploidentical HCT for malignant and nonmalignant diseases. However, experience in using PT-CY for rare IEIs, such as LAD-I, is very limited. We report a case of LAD-I successfully treated with HLA-haploidentical HCT with PT-CY. Complete chimerism was achieved, and the patient was cured. Her transplant course was complicated by mild GVHD, cytomegalovirus reactivation and veno-occlusive disease/sinusoidal obstruction syndrome, which were successfully treated. HLA-haploidentical HCT with PT-CY is a safe and effective option for patients with LAD-I when HLA-matched donors are unavailable. CI - Copyright (c) 2022 Yamashita, Eguchi, Tomomasa, Kamiya, Niizato, Mitsuiki, Isoda, Funakoshi, Mizuno, Okamoto, Nguyen, Takada, Takagi, Imai, Morio and Kanegane. FAU - Yamashita, Motoi AU - Yamashita M AD - Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan. FAU - Eguchi, Shiori AU - Eguchi S AD - Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan. FAU - Tomomasa, Dan AU - Tomomasa D AD - Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan. FAU - Kamiya, Takahiro AU - Kamiya T AD - Division of Clinical Management, Clinical Research Center, Tokyo Medical and Dental University (TMDU), Tokyo, Japan. FAU - Niizato, Daiki AU - Niizato D AD - Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan. FAU - Mitsuiki, Noriko AU - Mitsuiki N AD - Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan. FAU - Isoda, Takeshi AU - Isoda T AD - Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan. FAU - Funakoshi, Hanako AU - Funakoshi H AD - Division of Infectious Diseases, Department of Pediatrics, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan. FAU - Mizuno, Yuki AU - Mizuno Y AD - Department of Pediatric Surgery, Tokyo Medical and Dental University Hospital, Tokyo, Japan. FAU - Okamoto, Kentaro AU - Okamoto K AD - Department of Pediatric Surgery, Tokyo Medical and Dental University Hospital, Tokyo, Japan. FAU - Nguyen, Tuan Minh AU - Nguyen TM AD - Department of Hematology, Children's Hospital 1, HCM, Vietnam. FAU - Takada, Hidetoshi AU - Takada H AD - Department of Child Health, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan. FAU - Takagi, Masatoshi AU - Takagi M AD - Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan. FAU - Imai, Kohsuke AU - Imai K AD - Department of Community Pediatrics, Perinatal and Maternal Medicine, Tokyo Medical and Dental University (TUDU), Tokyo, Japan. AD - Department of Pediatrics, National Defense Medical College, Tokorozawa, Japan. FAU - Morio, Tomohiro AU - Morio T AD - Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan. FAU - Kanegane, Hirokazu AU - Kanegane H AD - Department of Child Health and Development, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan. LA - eng PT - Case Reports PT - Research Support, Non-U.S. Gov't DEP - 20221024 PL - Switzerland TA - Front Immunol JT - Frontiers in immunology JID - 101560960 RN - 8N3DW7272P (Cyclophosphamide) RN - 0 (HLA Antigens) RN - Leukocyte adhesion deficiency type 1 SB - IM MH - Humans MH - Female MH - *Graft vs Host Disease/etiology/prevention & control MH - *Hematopoietic Stem Cell Transplantation/adverse effects MH - Cyclophosphamide/therapeutic use MH - HLA Antigens/genetics PMC - PMC9638093 OTO - NOTNLM OT - graft-versus-host disease OT - hematopoietic cell transplantation OT - inborn errors of immunity OT - leukocyte adhesion deficiency OT - posttransplant cyclophosphamide COIS- The handling editor HM declared a past co-authorship with the author HK. The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. EDAT- 2022/11/11 06:00 MHDA- 2022/11/15 06:00 PMCR- 2022/01/01 CRDT- 2022/11/10 02:24 PHST- 2022/08/16 00:00 [received] PHST- 2022/09/30 00:00 [accepted] PHST- 2022/11/10 02:24 [entrez] PHST- 2022/11/11 06:00 [pubmed] PHST- 2022/11/15 06:00 [medline] PHST- 2022/01/01 00:00 [pmc-release] AID - 10.3389/fimmu.2022.1020362 [doi] PST - epublish SO - Front Immunol. 2022 Oct 24;13:1020362. doi: 10.3389/fimmu.2022.1020362. eCollection 2022.