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A De Novo Cause of PGM3 Deficiency Treated with Hematopoietic Stem Cell Transplantation

A De Novo Cause of PGM3 Deficiency Treated with Hematopoietic Stem Cell Transplantation Journal of Clinical Immunology (2022) 42:691–694 https://doi.org/10.1007/s10875-021-01196-z LE T TER TO   EDITOR A De Novo Cause of PGM3 Deficiency Treated with Hematopoietic Stem Cell Transplantation 1 2 3 3 1 Andrew Winslow  · Elizabeth R. Jalazo  · April Evans  · Mike Winstead  · Timothy Moran Received: 1 September 2021 / Accepted: 7 December 2021 / Published online: 18 January 2022 © The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature 2021 To the Editor, immunodeficiency and was treated with HSCT. At presenta- tion the patient was a term 3460-g Hispanic female born to a 38-year-old multiparous HIV-negative mother via vaginal Phosphoglucomutase 3 (PGM3) is a glycosylation enzyme delivery following an uncomplicated gestation. There was no that catalyzes Glc-NAc-6-P conversion to Glc-NAc-1-P; its history of parental consanguinity or family history of known downstream product, UDP-GlcNAc, is an essential glyco- inborn errors of immunity, fetal demise, or early childhood sylation precursor [1]. PGM3 deficiency is an autosomal death. Newborn screening collected at 24 h showed abnor- recessive congenital disorder of glycosylation for which mal T-cell receptor excision circle (TREC) assay. Examina- a variety of clinical features have been described: atopy, tion at 2 weeks of life was remarkable for oral and diaper recurrent infections (especially http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Journal of Clinical Immunology Springer Journals

A De Novo Cause of PGM3 Deficiency Treated with Hematopoietic Stem Cell Transplantation

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References (7)

Publisher
Springer Journals
Copyright
Copyright © The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature 2021
ISSN
0271-9142
eISSN
1573-2592
DOI
10.1007/s10875-021-01196-z
Publisher site
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Abstract

Journal of Clinical Immunology (2022) 42:691–694 https://doi.org/10.1007/s10875-021-01196-z LE T TER TO   EDITOR A De Novo Cause of PGM3 Deficiency Treated with Hematopoietic Stem Cell Transplantation 1 2 3 3 1 Andrew Winslow  · Elizabeth R. Jalazo  · April Evans  · Mike Winstead  · Timothy Moran Received: 1 September 2021 / Accepted: 7 December 2021 / Published online: 18 January 2022 © The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature 2021 To the Editor, immunodeficiency and was treated with HSCT. At presenta- tion the patient was a term 3460-g Hispanic female born to a 38-year-old multiparous HIV-negative mother via vaginal Phosphoglucomutase 3 (PGM3) is a glycosylation enzyme delivery following an uncomplicated gestation. There was no that catalyzes Glc-NAc-6-P conversion to Glc-NAc-1-P; its history of parental consanguinity or family history of known downstream product, UDP-GlcNAc, is an essential glyco- inborn errors of immunity, fetal demise, or early childhood sylation precursor [1]. PGM3 deficiency is an autosomal death. Newborn screening collected at 24 h showed abnor- recessive congenital disorder of glycosylation for which mal T-cell receptor excision circle (TREC) assay. Examina- a variety of clinical features have been described: atopy, tion at 2 weeks of life was remarkable for oral and diaper recurrent infections (especially

Journal

Journal of Clinical Immunology – Springer Journals

Published: Apr 1, 2022

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