Clinical, Immunological, and Molecular Findings in Four Cases of B Cell Expansion With NF-κB and T Cell Anergy Disease for the First Time From India.
Front Immunol
; 9: 1049, 2018.
Article
en En
| MEDLINE
| ID: mdl-29963038
ABSTRACT
B cell expansion with NF-κB and T cell anergy (BENTA) is a rare primary immunodeficiency disorder caused by mutations in the CARD11 gene and results in constitutive NF-κB activation in B and T cells. Affected patients present with polyclonal expansion of B cells at an early age with splenomegaly, lymphadenopathy, and mild autoimmunity. Here, we discuss four BENTA cases with unusual clinical manifestations not previously reported. All patients showed previously reported gain-of-function mutations (G123S, G123D, and C49Y) in the CARD11 gene. Severe autoimmune manifestations were noted for the first time in all our patients.
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Linfocitos B
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Linfocitos T
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FN-kappa B
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Anergia Clonal
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Proteínas Adaptadoras de Señalización CARD
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Síndrome Linfoproliferativo Autoinmune
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Guanilato Ciclasa
Tipo de estudio:
Diagnostic_studies
Límite:
Child, preschool
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Female
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Humans
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Infant
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Male
País/Región como asunto:
Asia
Idioma:
En
Año:
2018
Tipo del documento:
Article