Get Group Change Card11 - Nclm

Other dominant negative variants in CARD11 cause a type of hyper IgE syndrome and have been found in children with severe allergies, eczema, and variable antibody deficiency with risk of recurrent infections.

The CARD11 gene provides instructions for making a protein involved in the function of immune system cells called lymphocytes, particularly certain types called T cells and B cells. These cells identify foreign substances such as bacteria, viruses, and fungi and defend the body against infection.

Upon TCR or BCR stimulation, caspase recruitment domain family, member 11 (CARD11) is phosphorylated, enabling its association with BCL10–MALT1 complex, to form the CBM complex. The CBM complex allows for activation of the NEMO–IκB kinase (IKK) complex, which induces phosphorylation of IκB and causes its breakdown.

At least five CARD11 gene mutations have been identified in people with a skin disorder called atopic dermatitis (also known as atopic eczema). This condition is characterized by dry, itchy skin and red rashes. The word "atopic" indicates an association with allergies.

On the C-terminus of CARD11 there is the MAGUK domain that is associated with the cell membrane. This domain is often referred to as the inhibitory domain. Protein kinase C activates CARD11 by phosphorylating serine residues within the inhibitory domain.