Intra-familial variation in clinical phenotype of CARD14-related psoriasis

Marina Eskin-Schwartz, Lina Basel-Vanagaite, Michael David, Irina Lagovsky, Dan Ben-Amitai, Pola Smirin-Yosef, Lihi Atzmony, Emmilia Hodak

Research output: Contribution to journalArticlepeer-review

14 Scopus citations


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 intrafamilial variation in the clinical phenotype of the disease.

Original languageEnglish
Pages (from-to)885-887
Number of pages3
JournalActa Dermato-Venereologica
Issue number7
StatePublished - 1 Nov 2016
Externally publishedYes


  • CARD14 gene
  • Familial
  • Psoriasis

ASJC Scopus subject areas

  • Dermatology


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