CARD-CC family

Evolution and species distribution

The protein family is ancient and can be found as far back as

• Loss-of-function mutations in
  fungal infections.^[9][10]
• Gain-of-function variants in
  psychosomatic sequelæ in the UK biobank association between exome sequences and health data.^[11]
• Strong loss-of-function mutations in CARD11 cause severe defects in lymphocyte function since it is a critical downstream signal mediator in T- and B-cell antigen receptor signaling, which results in severe combined immunodeficiency (SCID).^[12]
• Weak (hypomorphic) mutations in CARD11 causes atopic dermatitis disease.^[13]
• Gain-of-function mutations in CARD11 can result in B-cell lymphoma or BENTA.^[14][15]
• Gain-of-function mutations in CARD14 results in psoriasis or PRP.^[16][17]
• There are indications that loss-of-function mutations in CARD14 could result in atopic dermatitis due to disrupted immune responses against skin microbes.^[18]
• There are no obvious gain- or loss-of-function mutations in CARD10, but it is sometimes over-expressed in certain cancer variants,^[19] and there is a SNP in CARD10 associated to glaucoma.^[20]

References