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Intra-familial Variation in Clinical Phenotype of CARD14-related Psoriasis

Marina Eskin-Schwartz1, Lina Basel-Vanagaite, Michael David

  • 1Department of Dermatology, Tel-Aviv Sourasky Medical Center, Weizman str. 6, Tel-Aviv, Israel. shwartzmarina@gmail.com.

Acta Dermato-Venereologica
|March 18, 2016
PubMed

Insights

This study details a family with CARD14-related psoriasis, showing varied symptoms from mild to severe pustular types. Genetic factors like CARD14 mutations and polymorphisms influence disease presentation and onset.

Area of Science:

  • Genetics
  • Dermatology
  • Immunology

Background:

  • Psoriasis is a chronic inflammatory condition with complex genetic underpinnings.
  • Monogenic forms of psoriasis, linked to CARD14 gene mutations, have recently been identified.
  • Understanding genetic variations is crucial for diagnosing and managing psoriasis phenotypes.

Observation:

  • A family exhibiting CARD14-related psoriasis presented with diverse clinical manifestations, ranging from plaque-type to generalized pustular psoriasis.
  • Affected individuals carried the c.349G>A [p.Gly117Ser] mutation in CARD14, a novel association with pustular psoriasis.
  • Severe phenotypes were associated with additional CARD14 polymorphisms (rs2066964, rs34367357, rs11652075).

Findings:

  • The CARD14 c.349G>A [p.Gly117Ser] mutation is linked to variable psoriasis phenotypes within a family.
  • Specific CARD14 polymorphisms may influence the severity and clinical expression of psoriasis.
  • Early-onset psoriasis in this family co-segregated with HLA-C*0602, suggesting its role in modulating disease onset.

Implications:

  • This research highlights the significant role of CARD14 genetics in psoriasis variability.
  • Identifying specific genetic factors can improve understanding of disease pathogenesis and progression.
  • Further research into CARD14 haplotypes and their interaction with HLA-C*0602 may offer new therapeutic targets for psoriasis.

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