Neonatal-onset T(-)B(-)NK(+) severe combined immunodeficiency and neutropenia caused by mutated phosphoglucomutase 3

J Allergy Clin Immunol. 2016 Jan;137(1):321-324. doi: 10.1016/j.jaci.2015.07.047. Epub 2015 Sep 26.

Authors

Jens Magnus Bernth-Jensen¹, Mette Holm², Mette Christiansen³

Affiliations

¹ Department of Clinical Immunology, Aarhus University Hospital, Aarhus, Denmark. Electronic address: jejensen@rm.dk.
² Department of Pediatrics, Aarhus University Hospital, Aarhus, Denmark.
³ Department of Clinical Immunology, Aarhus University Hospital, Aarhus, Denmark.

PMID: 26409661
DOI: 10.1016/j.jaci.2015.07.047

No abstract available

Publication types

Case Reports
Letter

MeSH terms

B-Lymphocytes / immunology
Humans
Infant, Newborn
Killer Cells, Natural / immunology
Male
Mutation
Neutropenia / genetics*
Neutropenia / immunology
Phosphoglucomutase / genetics*
Severe Combined Immunodeficiency / genetics*
Severe Combined Immunodeficiency / immunology
T-Lymphocytes / immunology

Substances

PGM3 protein, human
Phosphoglucomutase