A novel mutation in FOXN1 resulting in SCID: a case report and literature review

Clin Immunol. 2014 Nov;155(1):30-32. doi: 10.1016/j.clim.2014.08.005. Epub 2014 Aug 27.

Authors

Janet Chou¹, Michel J Massaad¹, Rima Hanna Wakim², Wayne Bainter¹, Ghassan Dbaibo², Raif S Geha³

Affiliations

¹ Division of Immunology, Boston Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
² Department of Pediatrics and Adolescent Medicine, American University of Beirut, Beirut, Lebanon.
³ Division of Immunology, Boston Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, MA, USA. Electronic address: raif.geha@childrens.harvard.edu.

PMID: 25173801
DOI: 10.1016/j.clim.2014.08.005

No abstract available

Keywords: FOXN1; Severe combined immunodeficiency; Whole exome sequencing.

Publication types

Case Reports
Letter
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Review

MeSH terms

Fatal Outcome
Female
Forkhead Transcription Factors / genetics
Forkhead Transcription Factors / metabolism*
Humans
Infant
Mutation
Severe Combined Immunodeficiency / metabolism*
Severe Combined Immunodeficiency / therapy
Stem Cell Transplantation / adverse effects

Substances

Forkhead Transcription Factors
Whn protein

Grants and funding