Role of Skewed X-Chromosome Inactivation in Common Variable Immunodeficiency

The term common variable immunodeficiency (CVID) encompasses a clinically diverse group of disorders, mainly characterized by hypogammaglobulinemia, insufficient specific antibody production, and recurrent infections. The genetics of CVID is complex, and monogenic defects account for only a portion...

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Veröffentlicht in:	Journal of clinical immunology 2024-02, Vol.44 (2), p.54, Article 54
Hauptverfasser:	Garcia-Prat, Marina, Batlle-Masó, Laura, Parra-Martínez, Alba, Franco-Jarava, Clara, Martinez-Gallo, Mónica, Aguiló-Cucurull, Aina, Perurena-Prieto, Janire, Castells, Neus, Urban, Blanca, Dieli-Crimi, Romina, Soler-Palacín, Pere, Colobran, Roger
Format:	Artikel
Sprache:	eng
Schlagworte:	Agammaglobulinemia Alleles Alternative splicing Antibodies Biomedical and Life Sciences Biomedicine CD40 Ligand Chromosomes Common Variable Immunodeficiency Epigenetics Female Humans Hypogammaglobulinemia I-kappa B Kinase Immune system Immunology Infectious Diseases Internal Medicine Medical Microbiology mRNA Original Article Patients Polygenic inheritance X chromosomes X-chromosome inactivation
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