Combined immunodeficiency associated with homozygous MALT1 mutations

J Allergy Clin Immunol. 2014 May;133(5):1458-62, 1462.e1-7. doi: 10.1016/j.jaci.2013.10.045. Epub 2013 Dec 12.

Authors

Margaret L McKinnon¹, Jacob Rozmus², Shan-Yu Fung², Aaron F Hirschfeld², Kate L Del Bel², Leah Thomas², Nico Marr², Spencer D Martin³, Ashish K Marwaha⁴, John J Priatel⁴, Rusung Tan⁴, Christof Senger⁴, Angela Tsang⁴, Julie Prendiville², Anne K Junker², Michael Seear², Kirk R Schultz², Laura M Sly², Robert A Holt³, Millan S Patel¹, Jan M Friedman¹, Stuart E Turvey⁵

Affiliations

¹ Department of Medical Genetics, Child & Family Research Institute, University of British Columbia, Vancouver, British Columbia, Canada.
² Department of Pediatrics, Child & Family Research Institute, University of British Columbia, Vancouver, British Columbia, Canada.
³ Michael Smith Genome Sciences Centre, British Columbia Cancer Agency, Vancouver, British Columbia, Canada.
⁴ Department of Pathology and Laboratory Medicine, Child & Family Research Institute, University of British Columbia, Vancouver, British Columbia, Canada.
⁵ Department of Pediatrics, Child & Family Research Institute, University of British Columbia, Vancouver, British Columbia, Canada. Electronic address: [email protected].

PMID: 24332264
DOI: 10.1016/j.jaci.2013.10.045

No abstract available

Publication types

Case Reports
Clinical Trial
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Caspases* / genetics
Caspases* / immunology
Female
Homozygote*
Humans
Mucosa-Associated Lymphoid Tissue Lymphoma Translocation 1 Protein
Mutation*
Neoplasm Proteins* / genetics
Neoplasm Proteins* / immunology
Severe Combined Immunodeficiency / genetics*
Severe Combined Immunodeficiency / immunology
Severe Combined Immunodeficiency / pathology

Substances

Neoplasm Proteins
Caspases
MALT1 protein, human
Mucosa-Associated Lymphoid Tissue Lymphoma Translocation 1 Protein

Grants and funding

Canadian Institutes of Health Research/Canada