PAPA Syndrome - Genetics


PAPA syndrome is inherited in an autosomal dominant fashion, which means that if one parent is affected, there is a 100% chance that a child will inherit the disease from an homozygous affected parent, and a 50% chance that a child will inherit the disease from an affected heterozygous parent.

Recently the responsible gene has been identified on Chromosome 15. Two mutations have been found in a protein called CD2 binding protein 1 (CD2BP1). This protein is part of an inflammatory pathway associated with other autoinflammatory diseases such as familial Mediterranean fever, Hyperimmunoglobulinemia D with recurrent fever, Muckle-Wells syndrome, neonatal onset multisystem inflammatory disease and familial cold urticaria.

Read more about this topic:  PAPA Syndrome

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