Digenic inheritance of IL-36RA and SEC61A1 mutations underlies generalized pustular psoriasis with hypogammaglobulinemia.
Clin Immunol
; 235: 108930, 2022 02.
Article
em En
| MEDLINE
| ID: mdl-35063669
ABSTRACT
We report a female patient presenting with generalized pustular psoriasis and hypogammaglobulinemia due to digenic mutations in IL-36RA and SEC61A1. The patient presented with recurrent fevers, elevated inflammatory markers, hepatosplenomegaly, and recurrent sinopulmonary infections in the context of hypogammaglobulinemia which improved on immunoglobulin replacement. This report demonstrates how digenic inheritance leads to complex phenotypes, and illustrates the importance of following an unbiased approach to identifying variants, especially in patients with atypical clinical presentations.
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Base de dados:
MEDLINE
Assunto principal:
Psoríase
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Interleucinas
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Predisposição Genética para Doença
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Agamaglobulinemia
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Canais de Translocação SEC
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article