X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene
نویسندگان
چکیده
منابع مشابه
Exome Sequencing Diagnoses X-Linked Moesin-Associated Immunodeficiency in a Primary Immunodeficiency Case
Background We investigated the molecular etiology of a young male proband with confirmed immunodeficiency of unknown cause, presenting with recurrent bacterial and Varicella zoster viral infections in childhood and persistent lymphopenia into early adulthood. Aim To identify causative functional genetic variants related to an undiagnosed primary immunodeficiency. Method Whole genome microar...
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Idiopathic hypogonadotropic hypogonadism (IHH) is a condition caused by low doses of hypothalamic gonadotropin-releasing hormone (GnRH) leading to absence or incomplete sexual maturation. One of the disorders leading to IHH is Kallmann syndrome which is characterized by GnRH deficiency with anosmia or hyposmia. This disorder generally occurs as a hereditary syndrome with X-linked recessive inhe...
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BACKGROUND X-linked retinoschisis (XLRS) is a relatively rare vitreoretinal dystrophy that causes visual loss in young men. Recently, a gene responsible for this disease, designated XLRS1, was identified, and several deleterious gene mutations were reported. OBJECTIVE To analyze Japanese patients clinically diagnosed as having XLRS formutational changes in the XLRS1 gene. METHODS Ten patien...
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ژورنال
عنوان ژورنال: Journal of Allergy and Clinical Immunology
سال: 2016
ISSN: 0091-6749
DOI: 10.1016/j.jaci.2016.04.032