Unusual Late-onset Enteropathy in a Patient With Lipopolysaccharide-responsive Beige-like Anchor Protein Deficiency.
J Pediatr Hematol Oncol
; 42(8): e768-e771, 2020 11.
Article
em En
| MEDLINE
| ID: mdl-31876783
ABSTRACT
In recent years, monogenic causes of immune dysregulation syndromes, with variable phenotypes, have been documented. Mutations in the lipopolysaccharide-responsive beige-like anchor (LRBA) protein are associated with common variable immunodeficiency, autoimmunity, chronic enteropathy, and immune dysregulation disorders. The LRBA protein prevents degradation of cytotoxic T-lymphocyte antigen 4 (CTLA4) protein, thus inhibiting immune responses. Both LRBA and CTLA4 deficiencies usually present with immune dysregulation, mostly characterized by autoimmunity and lymphoproliferation. In this report, we describe a patient with an atypical clinical onset of LRBA deficiency and the patient's response to abatacept, a fusion protein-drug that mimics the action of CTLA4.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Deficiência de Proteína
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Enteropatias Perdedoras de Proteínas
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Proteínas Adaptadoras de Transdução de Sinal
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Antígeno CTLA-4
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Abatacepte
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Síndromes de Imunodeficiência
Tipo de estudo:
Prognostic_studies
Limite:
Child, preschool
/
Humans
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Male
Idioma:
En
Ano de publicação:
2020
Tipo de documento:
Article