A novel <i>CARD11</i> heterozygous missense variant in a CADINS patient.

ABSTRACT:

Background

CARD11-associated atopy with dominant interference of NF-κB signaling (CADINS) is developed as a result of heterozygous loss-of-function variants in CARD11 that function as strong dominant-negative alleles. In lymphocytes, CARD11 encodes a scaffold protein that links activation of the antigen receptor with downstream signaling. Patients with CADINS generally experience severe atopic dermatitis, asthma, recurrent pneumonia and other upper respiratory tract infections, skin infections, and allergies to a variety of dietary and environmental antigens. Additionally, patients experience elevated levels of serum IgE, but low to normal levels of other immunoglobulin types.

Objective

We performed genetic diagnosis of a patient of nonconsanguineous des

SUBMITTER: AlYafie RS 

PROVIDER: S-EPMC12018100 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature