SERPINA1, generalized pustular psoriasis, and adult-onset immunodeficiency.
J Dermatol
; 48(10): 1597-1601, 2021 Oct.
Article
em En
| MEDLINE
| ID: mdl-34390020
ABSTRACT
Adult-onset immunodeficiency syndrome (AOID) with anti-interferon (IFN)-γ autoantibodies is characterized by an AIDS-like illness with disruptive IFN-γ signaling. Patients generally present with recurrent and disseminated opportunistic infections along with neutrophilic dermatoses. Generalized pustular psoriasis (GPP; Online Mendelian Inheritance in Man #614204) is characterized by acute generalized erythema and scaling with numerous aseptic pustules. Mutations in SERPINA3 have been reported as predisposing risk factors for both AOID and GPP. Here, we report two unrelated patients, one with AOID and a pustular skin reaction and the other with GPP, who both carried the same heterozygous variant c.718G>A (p.Val240Met) in SERPINA1. Our observation of a shared mutation in SERPINA1 in AOID and GPP indicate possible pathobiological and disease mechanism similarities in these two disorders. Thus, variants in both SERPINA1, SERPINA3, and potentially other SERPIN family members may be associated with the etiology of GPP and AOID.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Psoríase
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Alfa 1-Antitripsina
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Dermatopatias Vesiculobolhosas
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Síndromes de Imunodeficiência
Tipo de estudo:
Diagnostic_studies
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Risk_factors_studies
Limite:
Adult
/
Humans
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article