title: Intra-familial Variation in Clinical Phenotype of CARD14-related Psoriasis.
abstract: Psoriasis is a multifactorial chronic inflammatory disease. Monogenic psoriasis has been described recently, including dominantly inherited plaque and generalized pustular types, related to activating mutations in the CARD14 gene. We describe here a family with CARD14-related psoriasis, exhibiting an extreme variability of clinical presentation (from mild plaque-type to generalized pustular psoriasis) and early disease onset. The affected family members harboured the c.349G>A [p.Gly117Ser] mutation in CARD14, which has not previously been linked to pustular psoriatic phenotype. Furthermore, most severely affected individuals carried 3 additional CARD14 coding region polymorphisms (rs2066964, rs34367357 and rs11652075), suggesting their possible effect on disease expression. Early-onset psoriasis co-segregated with the HLA-C*0602, indicating that HLA-C*0602 could potentially modulate the time of disease onset. In summary, this paper describes a family with CARD14-related psoriasis and discusses the possible influence of the specific haplotypes on intra-familial variation in the clinical phenotype of the disease.
authors.affiliation: Department of Dermatology, Tel-Aviv Sourasky Medical Center, Weizman str. 6, Tel-Aviv, Israel. shwartzmarina@gmail.com.
authors.forename: Marina
authors.initials: M
authors.lastname: Eskin-Schwartz
authors.forename: Lina
authors.initials: L
authors.lastname: Basel-Vanagaite
authors.forename: Michael
authors.initials: M
authors.lastname: David
authors.forename: Irina
authors.initials: I
authors.lastname: Lagovsky
authors.forename: Dan
authors.initials: D
authors.lastname: Ben-Amitai
authors.forename: Pola
authors.initials: P
authors.lastname: Smirin-Yosef
authors.forename: Lihi
authors.initials: L
authors.lastname: Atzmony
authors.forename: Emmilia
authors.initials: E
authors.lastname: Hodak
mesh_terms: D000328:Adult; D000483:Alleles; D053468:CARD Signaling Adaptor Proteins / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D053590:Interleukin 1 Receptor Antagonist Protein / Q000235:genetics; D007378:Interleukins / Q000235:genetics; D007585:Jews; D008297:Male; D009154:Mutation; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D011565:Psoriasis / Q000235:genetics*
chemical_list: D053468:CARD Signaling Adaptor Proteins; C507763:IL1RN protein, human; C122187:IL36RN protein, human; D053590:Interleukin 1 Receptor Antagonist Protein; D007378:Interleukins