Figure 1.

Family pedigree and CARD11 domains in health and diseases. (A) Family pedigree. (B) Multiple species alignment of CARD11 protein (AA 52-101) showing high conservation of Arg75 across species. Red: full conservation. (C) Schematic representation of CARD11, with functional domains and reported variants, including monoallelic gain-of-function (GOF) variants in BENTA, biallelic LOF variants in SCID, monoallelic DN LOF variants in CARD11-associated atopy with dominant interference of NF-κB signaling (CADINS), additionally monoallelic DN LOF variants in CADINS and carcinoma. DN, dominant negative; LOF, loss of function; SCID, severe combined immunodeficiency, * truncating variant. (D) Sanger DNA sequencing electropherograms showing the novel heterozygote variant of the CARD11 gene in III.4, his mother II.2 and his cousin III.2.