Immunological repertoire linked to PSTPIP1-associated myeloid-related inflammatory (PAMI) syndrome.
Pediatr Rheumatol Online J
; 19(1): 126, 2021 Aug 16.
Article
em En
| MEDLINE
| ID: mdl-34399798
BACKGROUND: Mutations along PSTPIP1 gene are associated to two specific conditions, PAPA syndrome and PAMI syndrome, both autoinflammatory disorders associated to disturbances in cytoskeleton formation. Immunological aspects of PAMI syndrome has not yet been reported neither the clinical impact on therapeutical decisions. METHODS: Clinical data of patients records were retrospectively accessed. Genomic DNA were extracted and sequenced following standard procedures. Peripheral lymphocytes were quantified in T, B e FOXP3 phenotypes. RESULTS: We describe two related patients with PAMI syndrome harboring the usual E250K mutation. Anti-IL1 therapy could partially control the disease in the index patient. A broad spectrum of immunological effects as well as an aberrant expression of FOXP3 could be observed. CONCLUSIONS: Here we report two related brazilian patients with PAMI syndromes harboring the E250K mutation in PSTPIP1, their immunological aspects and the therapeutical response to canakinumab.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Proteínas do Citoesqueleto
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Proteínas Adaptadoras de Transdução de Sinal
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Interleucina-1beta
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Doenças Hereditárias Autoinflamatórias
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Anticorpos Monoclonais Humanizados
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Anemia
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Neutropenia
Tipo de estudo:
Diagnostic_studies
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Etiology_studies
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Prognostic_studies
/
Risk_factors_studies
Limite:
Adult
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Child, preschool
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Female
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Humans
Idioma:
En
Revista:
Pediatr Rheumatol Online J
Ano de publicação:
2021
Tipo de documento:
Article
País de afiliação:
Brasil
País de publicação:
Reino Unido