Precise diagnosis of immune-related disorders is the basis for establishing life-changing treatment and management options. By leveraging CentoMD®, our robust mutation database for rare diseases, we carefully curate and document all variants that have clinical relevance for related symptoms – providing the most comprehensive diagnosis of immune-related diseases.
Articles on Immunology
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BioHFS – Biomarker for Hyaline Fibromatosis Syndrome
Hyaline fibromatosis syndrome (HFS) is rare autosomal recessive disease characterized by the deposition of amorphous hyaline material in skin and visceral organs. The goal of this study is to identify and validate a new biochemical marker from the plasma of affected patients helping to benefit other…
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A Race Against the Clock – Diagnosing Genetic Conditions in Newborns and Children
Up to one third of all babies and children admitted to the intensive care unit (ICU) have a genetic disease. For many of them early identification can make a difference for their immediate and later health.