Genetic findings in a patient with paradoxical pyoderma gangrenosum induced by brodalumab

Aromolo, Italo Francesco; Maronese, Carlo Alberto; Moltrasio, Chiara; Boggio, Francesca; Violetti, Silvia Alberti; Avallone, Gianluca; Morini, Nicole; Carrera, Carlo Giovanni; Genovese, Giovanni; Marzano, Angelo Valerio

doi:10.1093/ced/llac117

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X-linked Agammaglobulinemia1

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2023

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“…36 IL-6 upregulation has been reported in gene expression studies of PG, which provides a plausible pathogenesis for PG in XLA. 26,[37][38][39] IL-6 favours T H 17 differentiation promoting the downstream elevation of cytokines reported in PG (e.g. IL-23).…”

Section: X-linked Agammaglobulinemiamentioning

confidence: 99%

What can inherited immunodeficiencies reveal about pyoderma gangrenosum?

Oprea,

Kody,

Shakshouk

et al. 2023

Experimental Dermatology

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Pyoderma gangrenosum (PG) is a rare ulcerative neutrophilic dermatosis that is occasionally associated with primary immunodeficiency. Though contributions from dysregulation of the innate immune system, neutrophil dysfunction and genetic predisposition have been postulated, the precise pathogenesis of PG has not yet been elucidated. This article reviews reported cases of coexisting PG and primary immunodeficiency in order to gain insight into the complex pathophysiology of PG. Our findings suggest that variations in genes such as RAG1, ITGB2, IRF2BP2 and NFκB1 might play a role in genetically predisposing patients to develop PG. These studies support the feasibility of the role of somatic gene variation in the pathogenesis of PG which warrants further exploration to guide targeted therapeutics.

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