Complete absence of CARD11 protein, which is a rare autosomal recessive condition, causes hypogammaglobulinemia and T cell dysfunction in spite of normal T cell numbers.

Jun 23, 2025 · Pathogenic variants in the CARD11 gene result in a broad spectrum of syndromic immunodeficiencies with variable severity and clinical outcomes.

Jun 23, 2025 · In this review, we summarize the broad spectrum of CARD11-related diseases, their underlying pathophysiological mechanisms, multidisciplinary management strategies, and …

In CARD11 deficiency, numbers of T cells, B cells, and NK cells are generally normal. However, transitional B cells are markedly increased while naïve B cells and class-switched B cells are …

For clinicians, this study also provides an improved differential diagnosis for immune deficiency and dysregulation linked to CARD11 mutations. An algorithm detailing our strategy for …

Immunodeficiency 11 occurs when both copies of the CARD11 gene are mutated. The mutations are described as "loss of function" because they lead to production of an abnormally short, …

A rare non-severe combined immunodeficiency characterized by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo- to agammaglobulinemia, …

Severe Combined Immunodeficiency (SCID) is a rare but life-threatening condition that severely impairs the immune system's ability to fight off infections. Among its various forms, SCID due …

Immunodeficiency-11A is an autosomal recessive primary immunodeficiency characterized by normal numbers of T and B lymphocytes, but defective intracellular signaling.

Sep 19, 2018 · Three different forms of primary immunodeficiency (PID) have been described so far that result from germline mutations in the CARD11 gene, (1) CARD11 deficiency, (2) BENTA …