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01.01.2016 | CME Review

Spectrum of Phenotypes Associated with Mutations in LRBA

verfasst von: Omar K. Alkhairy, Hassan Abolhassani, Nima Rezaei, Mingyan Fang, Kasper Krogh Andersen, Zahra Chavoshzadeh, Iraj Mohammadzadeh, Mariam A. El-Rajab, Michel Massaad, Janet Chou, Asghar Aghamohammadi, Raif S. Geha, Lennart Hammarström

Erschienen in: Journal of Clinical Immunology | Ausgabe 1/2016

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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.

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Titel: Spectrum of Phenotypes Associated with Mutations in LRBA
verfasst von: Omar K. Alkhairy
Hassan Abolhassani
Nima Rezaei
Mingyan Fang
Kasper Krogh Andersen
Zahra Chavoshzadeh
Iraj Mohammadzadeh
Mariam A. El-Rajab
Michel Massaad
Janet Chou
Asghar Aghamohammadi
Raif S. Geha
Lennart Hammarström
Publikationsdatum: 01.01.2016
Verlag: Springer US
Erschienen in: Journal of Clinical Immunology / Ausgabe 1/2016
Print ISSN: 0271-9142
Elektronische ISSN: 1573-2592
DOI: https://doi.org/10.1007/s10875-015-0224-7

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Spectrum of Phenotypes Associated with Mutations in LRBA

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