TACI mutation with invasive polyclonal CD8+ T-cell lymphoproliferation in a patient with common variable immunodeficiency.
J Allergy Clin Immunol
; 117(4): 870-7, 2006 Apr.
Article
en En
| MEDLINE
| ID: mdl-16630947
ABSTRACT
Mutations of the gene encoding the TNF receptor family member transmembrane activator and calcium-modulator and cyclophilin ligand interactor (TACI), TNFSRF13B, have recently been described in patients with common variable immunodeficiency (CVID). We report the case of a man with CVID in association with a heterozygous TACI gene mutation (C104R) who had a highly unusual, invasive, polyclonal CD8+ T-cell lymphoproliferation resulting in massive hepatosplenomegaly and causing renal impairment because of infiltration. Although lymphoproliferation is well described in CVID, the key features in this patient included the T-cell origin of the lymphoproliferation, its polyclonal nature, its infiltration into multiple organs, and the presence of the TACI gene mutation.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Mutación Puntual
/
Inmunodeficiencia Variable Común
/
Receptores del Factor de Necrosis Tumoral
/
Linfocitos T CD8-positivos
/
Trastornos Linfoproliferativos
/
Proteínas de la Membrana
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Adult
/
Humans
/
Male
Idioma:
En
Revista:
J Allergy Clin Immunol
Año:
2006
Tipo del documento:
Article
País de afiliación:
Australia