Citations to this article

Variable phenotypic expression of mutations in genes of the immune system
Rebecca H. Buckley
Rebecca H. Buckley
Published November 1, 2005
Citation Information: J Clin Invest. 2005;115(11):2974-2976. https://doi.org/10.1172/JCI26956.
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Variable phenotypic expression of mutations in genes of the immune system

Abstract

Discovery of mutated genes that cause various types of primary immunodeficiencies has significantly advanced our understanding of the pathogenesis of these diseases and of the functions of normal gene products. However, it is becoming abundantly clear that the phenotypic presentation of mutations in a given gene can be quite different, depending upon the location and type of mutation but also probably upon other genetic factors and environmental influences. In this issue of the JCI, de Villartay et al. describe a third phenotype for mutations in recombination activating gene 1 (RAG1), in addition to the already known phenotypes of SCID and Omenn syndrome.

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Rebecca H. Buckley

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Citations to this article (9)

Title and authors Publication Year
A Specially Designed Multi-Gene Panel Facilitates Genetic Diagnosis in Children with Intrahepatic Cholestasis: Simultaneous Test of Known Large Insertions/Deletions
Wang NL, Lu YL, Zhang P, Zhang MH, Gong JY, Lu Y, Xie XB, Qiu YL, Yan YY, Wu BB, Wang JS 		PloS one 2016
Spectrum of Phenotypes Associated with Mutations in LRBA
OK Alkhairy, H Abolhassani, N Rezaei, M Fang, KK Andersen, Z Chavoshzadeh, I Mohammadzadeh, MA El-Rajab, M Massaad, J Chou, A Aghamohammadi, RS Geha, L Hammarström 		Journal of Clinical Immunology 2015
Primary Immunodeficiency Diseases in Saudi Arabia: a Tertiary Care Hospital Experience over a Period of Three Years (2010-2013).
Al-Saud B, Al-Mousa H, Al Gazlan S, Al-Ghonaium A, Arnaout R, Al-Seraihy A, Elshorbagi S, Elsayed N, Afzal J, Al-Dhekri H, Al-Muhsen S 		Journal of Clinical Immunology 2015
Prevalence and Morbidity of Primary Immunodeficiency Diseases, United States 2001–2007
Kobrynski L, Powell RW, Bowen S 		Journal of Clinical Immunology 2014
RAC2 Loss-of-function Mutation in Two Siblings with Characteristics of Common Variable Immunodeficiency
Alkhairy OK, Rezaei N, Graham RR, Abolhassani H, Borte S, Hultenby K, Wu C, Aghamohammadi A, Williams DA, Behrens TW, Hammarström L, Pan-Hammarström Q 		Journal of Allergy and Clinical Immunology 2014
Targeted NGS: A Cost-Effective Approach to Molecular Diagnosis of PIDs
Stoddard JL, Niemela JE, Fleisher TA, Rosenzweig SD 		Frontiers in immunology 2014
Monozygotic twin pair showing discordant phenotype for X-linked thrombocytopenia and Wiskott-Aldrich syndrome: a role for epigenetics?
Buchbinder D, Nadeau K, Nugent D 		Journal of Clinical Immunology 2011
Genetics of SCID
F Cossu 		Italian Journal of Pediatrics 2010
The European internet-based patient and research database for primary immunodeficiencies: results 2004–06
Eades-Perner AM, Gathmann B, Knerr V, Guzman D, Veit D, Kindle G, Grimbacher B 		Clinical & Experimental Immunology 2007

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