Cookies on this website
We use cookies to ensure that we give you the best experience on our website. If you click 'Continue' we'll assume that you are happy to receive all cookies and you won't see this message again. Click 'Find out more' for information on how to change your cookie settings.

Nude severe combined immunodeficiency is a rare inherited disease caused by autosomal recessive loss-of-function mutations in FOXN1. This gene encodes a transcription factor essential for the development of the thymus, the primary lymphoid organ that supports T-cell development and selection. To date nine cases have been reported presenting with the clinical triad of absent thymus resulting in severe T-cell immunodeficiency, congenital alopecia universalis and nail dystrophy. Diagnosis relies on testing for FOXN1 mutations, which allows genetic counselling and guides therapeutic management. Options for treating the underlying immune deficiency include HLA-matched genoidentical haematopoietic cell transplantation containing mature donor T-cells or thymus tissue transplantation. Experience from other severe combined immune deficiency syndromes suggests that early diagnosis, supportive care and definitive management result in better patient outcomes. Without these the prognosis is poor due to early-onset life threatening infections.

Original publication

DOI

10.1186/s13023-016-0557-1

Type

Journal article

Journal

Orphanet journal of rare diseases

Publication Date

11/01/2017

Volume

12

Pages

6 - 6

Addresses

Developmental Immunology Group, Department of Paediatrics, University of Oxford, Oxford, UK.

Keywords

T-Lymphocytes, Animals, Mice, Nude, Mice, SCID, Severe Combined Immunodeficiency, Alopecia, Receptors, Interleukin-7, Mutation, Forkhead Transcription Factors