Successful haploidentical hematopoietic stem cell transplantation with post-transplant cyclophosphamide in a child with X-linked chronic granulomatous disease: A first report in Asia

Chawisa Janjindamai, Wiparat Manuyakorn, Usanarat Anurathapan, Samart Pakakasama, Duangrurdee Wattanasirichaigoon, Wasu Kamchaisatian, Suwat Benjaponpitak, Suradej Hongeng

Department of Pediatrics, Faculty of Medicine Ramathibodi hospital, Mahidol University, Ratchathewi, Bangkok, Thailand

Abstract

Background: HLA-matched hematopoietic stem cell transplantation (HSCT) is the curative treatment for chronic granulomatous disease (CGD).
Objective: To report a case of X-linked CGD with active infection successfully treated by haploidentical HSCT with post-transplant high dose cyclophosphamide (PTCY).
Methods: A 5-year-old Thai boy with CGD was undergone for haploidentical HSCT using PTCY with correction of the phagocytic function. He presented with Chromobacterium violaceum liver abscess at the age of 9 months and experienced recurrent perianal abscess and invasive pulmonary aspergillosis even receiving antimicrobial prophylaxis. PTCY was given on day 3 and 4, after CD34⁺ cells infusion.
Results: The peripheral blood-nucleated cell chimerism showed 100% on day 16 and remained 100%. Dihydrorhodamine (DHR) assay on day 108 and day 214 showed normal results. Currently at 22 months post HSCT, he does not receive antibiotic and anti-fungal prophylaxis.
Conclusions: Haploidentical HSCT with PTCY could be an effective treatment option for children with CGD.
Key words: Haploidentical transplantation, Hematopoietic stem cell transplantation, Chronic granulomatous disease, Cyclophosphamide, Graft-Versus-Host Disease