Spectrum of Phenotypes Associated With Mutations in Lrba

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Spectrum of Phenotypes Associated With Mutations in Lrba Publisher Pubmed

Alkhairy OK^{1, 2} ; Abolhassani H^{1, 3} ; Rezaei N^{3, 4} ; Fang M^{1, 5} ; Andersen KK¹ ; Chavoshzadeh Z⁶ ; Mohammadzadeh I⁷ ; Elrajab MA⁸ ; Massaad M⁹ ; Chou J⁹ ; Aghamohammadi A³ ; Geha RS⁹ ; Hammarstrom L¹

Source: Journal of Clinical Immunology Published:2016

Abstract

To date, several germline mutations have been identified in the LRBA gene in patients suffering from a variety of clinical symptoms. These mutations abolish the expression of the LRBA protein, leading to autoimmunity, chronic diarrhea, B-cell deficiency, hypogammaglobulinemia, functional T-cell defects and aberrant autophagy. We review the clinical and laboratory features of patients with LRBA mutations and present five novel mutations in eight patients suffering from a multitude of clinical features. © 2015, Springer Science+Business Media New York.

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Style	Citing Format
MLA	Alkhairy OK, et al.. "Spectrum of Phenotypes Associated With Mutations in Lrba." Journal of Clinical Immunology, vol. 36, no. 1, 2016, pp. 33-45.
APA	Alkhairy OK, Abolhassani H, Rezaei N, Fang M, Andersen KK, Chavoshzadeh Z, Mohammadzadeh I, Elrajab MA, Massaad M, Chou J, Aghamohammadi A, Geha RS, Hammarstrom L (2016). Spectrum of Phenotypes Associated With Mutations in Lrba. Journal of Clinical Immunology, 36(1), 33-45.
Chicago	Alkhairy OK, Abolhassani H, Rezaei N, Fang M, Andersen KK, Chavoshzadeh Z, Mohammadzadeh I, et al.. "Spectrum of Phenotypes Associated With Mutations in Lrba." Journal of Clinical Immunology 36, no. 1 (2016): 33-45.
Harvard	Alkhairy OK et al. (2016) 'Spectrum of Phenotypes Associated With Mutations in Lrba', Journal of Clinical Immunology, 36(1), pp. 33-45.
Vancouver	Alkhairy OK, Abolhassani H, Rezaei N, Fang M, Andersen KK, Chavoshzadeh Z, et al.. Spectrum of Phenotypes Associated With Mutations in Lrba. Journal of Clinical Immunology. 2016;36(1):33-45.
BibTex	@article{ author = {Alkhairy OK and Abolhassani H and Rezaei N and Fang M and Andersen KK and Chavoshzadeh Z and Mohammadzadeh I and Elrajab MA and Massaad M and Chou J and Aghamohammadi A and Geha RS and Hammarstrom L}, title = {Spectrum of Phenotypes Associated With Mutations in Lrba}, journal = {Journal of Clinical Immunology}, volume = {36}, number = {1}, pages = {33-45}, year = {2016} }
RIS	TY - JOUR AU - Alkhairy OK AU - Abolhassani H AU - Rezaei N AU - Fang M AU - Andersen KK AU - Chavoshzadeh Z AU - Mohammadzadeh I AU - Elrajab MA AU - Massaad M AU - Chou J AU - Aghamohammadi A AU - Geha RS AU - Hammarstrom L TI - Spectrum of Phenotypes Associated With Mutations in Lrba JO - Journal of Clinical Immunology VL - 36 IS - 1 SP - 33 EP - 45 PY - 2016 ER -

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