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Mendelian susceptibility to mycobacterial disease—Challenges in hematopoietic stem cell transplantation
Author(s) -
Patel Shivani,
Uppuluri Ramya,
Vellaichamy Swaminathan Venkateswaran,
Ravichandran Nikila,
Melarcode Ramanan Kesavan,
Raj Revathi
Publication year - 2020
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.28187
Subject(s) - medicine , hematopoietic stem cell transplantation , fludarabine , cyclophosphamide , savior sibling , transplantation , disease , immunosuppression , immunology , oncology , chemotherapy
We present our experience in the hematopoietic stem cell transplantation (HSCT) in two children diagnosed with Mendelian susceptibility to mycobacterial diseases. The first child underwent a haploidentical HSCT with posttransplant cyclophosphamide using a reduced intensity conditioning following which he had primary graft failure. He was subsequently found to have interferon‐γ1 receptor deficiency. He had immune reconstitution and is on antitubercular therapy. The second child diagnosed with IL12RB1 gene mutation underwent matched sibling donor HSCT with myeloablative conditioning following pretransplant immunosuppression with fludarabine and dexamethasone. He is 13 months post‐HSCT with complete and remains disease free.