Category: Immunodeficiency
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Omenn Syndrome: When Your Body Throws Its Own Surprise Party
Imagine your immune system as an overzealous party planner, but instead of organizing a fun bash, it’s staging a revolt against your own body. Welcome to the world of Omenn syndrome, where your T cells decide to go rogue and treat your organs like they’re uninvited guests. These rebellious T cells, armed with mutant RAG…
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Adenosine deaminase deficiency (ADA deficiency) was discovered in 1972 and recognized as the first immunodeficiency disorder
Adenosine deaminase deficiency (ADA deficiency) is a metabolic disorder that causes immunodeficiency. It is caused by mutations in the ADA gene. It accounts for about 10–15% of all cases of autosomal recessive forms of severe combined immunodeficiency (SCID) among non-inbred populations. ADA deficiency can present in infancy, childhood, adolescence, or adulthood. Age of onset and severity is related to some 29 known genotypes associated with the disorder. It occurs…
