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Coinheritance of generalized pustular psoriasis and familial Behçet‐like autoinflammatory syndrome with variants in IL 36 RN and TNFAIP 3 in the heterozygous state
Author(s) -
Liang Jianying,
Zhang Hui,
Guo Yifeng,
Yang Kaihua,
Ni Cheng,
Yu Hong,
Kong Xiangsheng,
Li Ming,
Lu Zhiyong,
Yao Zhirong
Publication year - 2019
Publication title -
the journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.9
H-Index - 65
eISSN - 1346-8138
pISSN - 0385-2407
DOI - 10.1111/1346-8138.15034
Subject(s) - sanger sequencing , exome sequencing , generalized pustular psoriasis , genetics , locus (genetics) , phenotype , psoriasis , biology , gene , dna sequencing , immunology
Generalized pustular psoriasis ( GPP ) is now known to be caused by biallelic variants in IL 36 RN and monoallelic variants in CARD 14 and AP 1S3 . The presence of a modifier locus or oligogenic inheritance have been hypothesized. We report on a patient with a unique coinheritance of pathogenic variants in IL 36 RN (c.115+6T>C) and TNFAIP 3 (c.547C>T, p.R183 * ) causing the genetic entities GPP and familial Behçet‐like autoinflammatory syndrome ( AISBL ). The heterozygous variant in IL 36 RN identified by Sanger sequencing was inherited from his unaffected father, while the heterozygous variant in TNFAIP 3 was detected by whole‐exome sequencing and was also identified in the patient's AISBL ‐affected maternal relatives. Further functional studies are required to research whether the variant of TNFAIP 3 plays a part in the development of GPP or simply causes the Behçet's disease phenotype. However, our data suggest that whole‐exome sequencing for the heterozygous carrier of the IL 36 RN gene in GPP be used to find the potential second genetic locus.