Phenoidentical HLA-Related Hematopoietic Stem Cell Transplant Without Conditioning to Reconstitute a Patient with a Puta
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LETTER TO EDITOR
Phenoidentical HLA-Related Hematopoietic Stem Cell Transplant Without Conditioning to Reconstitute a Patient with a Putative Loss-of-Function CARD11 Mutation Bashayer Al-Rasheed 1 & Anas M. Alazami 2 & Hamoud Al-Mousa 1,3 Received: 22 May 2020 / Accepted: 13 August 2020 # Springer Science+Business Media, LLC, part of Springer Nature 2020
To the Editor: Caspase recruitment domain family, member 11 (CARD11) is a part of the “CBM” signalosome complex, whose other members include B cell chronic lymphocytic leukemia 10 (BCL10) and mucosa-associated lymphoid tissue lymphoma translocation 1 (MALT1). The complex, by regulating NF-kB activation in lymphoid cells, is fundamental for lymphoid cell survival and antigen-dependent cell proliferation [1, 2]. Homozygous loss-of-function mutations in CARD11 cause combined immunodeficiency whose features include early onset of viral, bacterial, and opportunistic infections with normal counts of T cells and B cells but poor lymphocyte function [1, 2]. Only four cases of such mutations in CARD11 have been reported in the literature, and one of them presented with Omenn syndrome due to a somatic second site missense mutation leading to partial restoration of CARD11 function [1–5]. Three of the reported cases were treated with hematopoietic stem cell transplantation (HSCT) [1–5]. Two of them received pre-transplant myeloablative conditioning consisting of busulfan, fludarabine, and ATG, and one case Capsule Summary Homozygous loss-of-function mutations in CARD11 cause combined immunodeficiency that can be cured with hematopoietic stem cell transplantation from an HLA-matched related donor without conditioning Electronic supplementary material The online version of this article (https://doi.org/10.1007/s10875-020-00846-y) contains supplementary material, which is available to authorized users. * Hamoud Al-Mousa [email protected] 1
Pediatric Allergy & Clinical Immunology, Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, MBC 58, P.O.Box 3354, Riyadh 11211, Saudi Arabia
2
Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
3
College of Medicine, Alfaisal University, Riyadh, Saudi Arabia
received reduced intensity conditioning due to chronic lung disease, consisting of treosulfan, fludarabine, alemtuzumab that required multiple boosts of donor lymphocytes infusion because of progressive falling of donor chimerism [1–4]. Here, we report a case with a novel homozygous CARD11 nonsense mutation diagnosed by targeted next generation sequencing and treated successfully with phenoidentical HLAmatched related hematopoietic stem cell transplantation from his mother without conditioning. This male patient is the second child of consanguineous parents with a family history of a brother who died at the age of 3 months with severe chest infection. He is a product of a full-term pregnancy with a birth weight of 2.9 kg. He was doing well until the age of 6 months when he started to have fever and
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