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
en 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
Colección:
01-internacional
Asunto principal:
Deficiencia de Proteína
/
Enteropatías Perdedoras de Proteínas
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Proteínas Adaptadoras Transductoras de Señales
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Antígeno CTLA-4
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Abatacept
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Síndromes de Inmunodeficiencia
Tipo de estudio:
Prognostic_studies
Límite:
Child, preschool
/
Humans
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Male
Idioma:
En
Revista:
J Pediatr Hematol Oncol
Asunto de la revista:
HEMATOLOGIA
/
NEOPLASIAS
/
PEDIATRIA
Año:
2020
Tipo del documento:
Article