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Front Pediatr. 2019 May 14;7:170. doi: 10.3389/fped.2019.00170. eCollection 2019.

Hematopoietic Stem Cell Transplant for the Treatment of X-MAID.

Author information

1
Division of Allergy and Immunology, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.
2
Perelman School of Medicine, Institute for Immunology, University of Pennsylvania, Philadelphia, PA, United States.
3
Laboratory of Human Lymphohematopoiesis, INSERM UMR 1163, Paris, France.
4
Imagine Institute, Paris Descartes - Sorbonne Paris Cité University, Paris, France.
5
The Children's Hospital of Philadelphia, Department of Human Genetics, Philadelphia, PA, United States.
6
Division of Allergy/Immunology and Infectious Diseases, Rutgers-New Jersey Medical School, Newark, NJ, United States.
7
Pediatric Immuno-Hematology Unit, Necker Children Hospital, Assistance-Publique Hopitaux de Paris, Paris, France.
8
Division of Oncology, Bone Marrow Transplant and Cellular Therapy, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.

Abstract

We report outcomes after hematopoietic stem cell transplant for three patients with X-MAID, including 1 patient from the originally described cohort and two brothers with positive TREC newborn screening for SCID who were found to have a T-B-NK+ SCID phenotype attributable to X-linked moesin associated immunodeficiency (X-MAID). A c.511C>T variant in moesin was identified via exome sequencing in the older of these siblings in the setting of low lymphocyte counts and poor proliferative responses consistent with SCID. He received reduced intensity conditioning due to CMV, and was transplanted with a T-depleted haploidentical (maternal) donor. His post-transplant course was complicated by hemolytic anemia, neutropenia, and sepsis. He had poor engraftment, requiring a 2nd transplant. His younger brother presented with the same clinical phenotype and was treated with umbilical cord blood transplant following myeloablative conditioning, has engrafted and is doing well. The third case also presented with severe lymphopenia in infancy, received a matched related bone marrow transplant following myeloablative conditioning, has engrafted and is doing well. These cases represent a novel manifestation of non-radiosensitive X-linked form of T-B-NK+ SCID that is able to be detected by TREC based newborn screening and effectively treated with HCT.

KEYWORDS:

HCT; NBS; SCID; WES; moesin

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