HYPERIMMUNOGLOBULINEMIA E SYNDROME (HYPER IgE): CLINICAL EXOME PANEL (Sec. & CNVs) – 9 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Hyperimmunoglobulinemia E (Hyper-IgE) Syndrome panel analyzes nine genes associated with this group of primary immunodeficiencies characterized by elevated serum IgE levels, recurrent skin and respiratory infections, chronic eczematous dermatitis, and connective tissue or skeletal abnormalities. These conditions can be inherited in an autosomal dominant or recessive manner, depending on the affected gene. Among the most relevant genes are STAT3, whose alteration causes classic Job syndrome; DOCK8, associated with severe forms involving viral infection; and PGM3 or TYK2, implicated in variants combined with other immunological defects. This panel allows for a comprehensive evaluation of the genes involved in immune signaling and the inflammatory response.
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