Late presenting atypical severe combined immunodeficiency (SCID) associated with a novel missense mutation in DCLRE1C

Pediatr Allergy Immunol. 2018 Feb;29(1):108-111. doi: 10.1111/pai.12812. Epub 2017 Dec 12.

Authors

Mikael Sundin¹, Michael Uhlin², Ahmed Gaballa², Kim Ramme¹, Antonios Ga Kolios³, Per Marits², Jakob Nilsson^{2

3}

Affiliations

¹ The Astrid Lindgren Children's Hospital, Karolinska University Hospital, Karolinska Institutet, Huddinge, Sweden.
² Department of Clinical Immunology, Karolinska University Hospital, Karolinska Institutet, Huddinge, Sweden.
³ Department of Immunology, University Hospital Zurich, Switzerland.

PMID: 28981982
DOI: 10.1111/pai.12812

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Child, Preschool
DNA-Binding Proteins
Endonucleases / genetics*
Hematopoietic Stem Cell Transplantation / methods
Humans
Male
Mutation, Missense
Nuclear Proteins / genetics*
Severe Combined Immunodeficiency / diagnosis
Severe Combined Immunodeficiency / genetics*
Severe Combined Immunodeficiency / therapy

Substances

DNA-Binding Proteins
Nuclear Proteins
DCLRE1C protein, human
Endonucleases

Supplementary concepts

Severe combined immunodeficiency, atypical