Immunogenetic Diseases Immunogenetic diseases are disorders caused by inherited variations or mutations in genes that regulate the immune system. These genetic alterations can lead to immune deficiency, immune dysregulation, or autoimmunity, making individuals more susceptible to infections, chronic inflammation, or autoimmune conditions. Immunogenetics plays a crucial role in understanding how genetic diversity influences immune responses, disease susceptibility, and treatment outcomes. Conditions such as primary immunodeficiencies, autoimmune diseases, allergic disorders, and immune-mediated inflammatory diseases are closely linked to immunogenetic mechanisms. Advances in genomics , molecular diagnostics, and personalized medicine have significantly improved the identification, management, and targeted treatment of immunogenetic diseases. Immunogenetics, Immunogenetic diseases, Immune system genetics, Autoimmune disorders, Primary immunodeficiency, Genetic immune disorders, H...
Wolf-Hirschhorn Syndrome Wolf–Hirschhorn Syndrome (WHS) is a rare genetic disorder caused by a partial deletion of the short arm of chromosome 4 (4p16.3). It is characterized by distinct craniofacial features often described as a “Greek warrior helmet” appearance, along with growth retardation, intellectual disability, seizures, and developmental delay. Affected individuals may also present with hypotonia , congenital heart defects, skeletal abnormalities, and delayed speech and motor skills. The severity of symptoms varies depending on the size of the chromosomal deletion . WHS typically occurs sporadically, though it can be inherited through chromosomal rearrangements. Early diagnosis through genetic testing and multidisciplinary medical care are essential for improving quality of life and managing associated complications. Wolf–Hirschhorn Syndrome, WHS, chromosome 4p deletion, 4p16.3 deletion, rare genetic disorder, developmental delay, intellectual disability, seizures, cran...