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Updated: Aug 15, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Genetic predisposition to infectious pathogens: a review of less familiar variants
Raz Somech1, Ninette Amariglio, Zvi Spirer
1Pediatric Hemato-Oncology, Chaim Sheba Medical Center, Tel Hashomer, Israel.
Abstract:
The susceptibility and clinical manifestations of infectious diseases in human populations are influenced by a variety of factors, among them host genetics. Obvious examples for the effect of host genetics on predisposition to unique infections are the primary immunodeficiency diseases. Minor gene variants that influence the host immune system are much more common. The iceberg model can be used to illustrate the epidemiology of immunodeficiency states. Accordingly only a few individuals have known and severe recognized primary immunodeficiencies, whereas many more patients have mild immunodeficiencies that may remain undiagnosed and are predisposed to a unique infectious disease. We review some of the less common variants that influence the host defense and predispose to certain infectious agents or change their outcome.
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