📂 Diseases
severe combined immunodeficiency due to CARD11 deficiency — Definition
CARD11 eksikliğine bağlı ağır kombine immün yetmezlik / severe combined immunodeficiency due to CARD11 deficiency
The result of mutations in CARD11 gene is a primary immunodeficiency disease with autozomal resessive transition, characterized by disruption of the development and functions of T and B lymphocytes. The disease manifests itself with severe and repetitive infections starting in early childhood. CARD11 protein is a critical adapter molecule in the way of the NF- sinyalB signal required for lymphocyte activation, its deficiency leads to a deep insufficiency in both cellular and humoral immunoresponses.
Frequently Asked Questions
❓ What is CARD11 eksikliğine bağlı ağır kombine immün yetmezlik?
CARD11 eksikliğine bağlı ağır kombine immün yetmezlik; the result of mutations in CARD11 gene is a primary immunodeficiency disease with autozomal resessive transition, characterized by disruption of the development and functions of T and B lymphocytes. The disease manifests itself with severe and repetitive infections starting in early childhood. CARD11 protein is a critical adapter molecule in the way of the NF- sinyalB signal required for lymphocyte activation, its deficiency leads to a deep insufficiency in both cellular and humoral immunoresponses.
❓ What is severe combined immunodeficiency due to CARD11 deficiency in Turkish?
The Turkish equivalent of "severe combined immunodeficiency due to CARD11 deficiency" is CARD11 eksikliğine bağlı ağır kombine immün yetmezlik.
❓ Which medical field is CARD11 eksikliğine bağlı ağır kombine immün yetmezlik related to?
This term belongs to the Diseases category.