PAPA Syndrome - Genetics

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

Other articles related to "genetics, genetic":

Giuseppe Sermonti - Biography - Early Life and Career
... He became professor of genetics at the University of Camerino, then at the University of Palermo in 1965, and finally moved to the University of Perugia in 1970, where he is presently emeritus professor ... He is the discoverer of the genetic parasexual recombination in antibiotic-producing Penicillium and Streptomyces ... of the XIV International Congress of Genetics held in Moscow and he was appointed as president of the International Committee of the Working Group on Genetics of Industrial ...
Genetics - Research and Technology - DNA Sequencing and Genomics
... One of the most fundamental technologies developed to study genetics, DNA sequencing allows researchers to determine the sequence of nucleotides in DNA fragments ...
Management Of Baldness - Research - Genetics
... at the University of Bonn announced they have found the genetic basis of two distinct forms of inherited hair loss, opening a broad path to treatments for baldness ... and they are now attempting to gather more genetic and biological data ...
Personalized Medicine - Background
... Advances in medical genetics and human genetics have enabled a more detailed understanding of the impact of genetics in disease ... polymorphisms (SNPs) that account for some of the genetic variability between individuals, and made possible the use of genome-wide association studies (GWAS) to examine ... It is hoped that recent advancements in the genetic etiologies of common diseases will improve pharmaceutical development ...