Síndrome de hiper-IgM en miembros de 2 familias Chilenas no relacionadas: análisis genético- molecular / Hyper-IgM syndrome in members of two unrelated Chilean families: molecular and mutation analysis
Rev. méd. Chile
;
132(10): 1179-1188, oct. 2004. ilus, tab
Artigo
em Espanhol
| LILACS
| ID: lil-454000
ABSTRACT
BACKGROUND: Hyper-IgM syndronie (HIGM) is a rare primary immunodeficiency used to describe a heterogeneous group of disorders characterized by recurrey bacterial infrctions, normal or elevated serum IgM levels and low or absent serum IgG, IgA and IgE. AIM: To make definitive diagnosis, detect mutations in carriers and perform genetic counseling in patients with HIGM. PATIENTS AND METHODS: We studied the expression of CD40L, CD40 and made a mutation analysis of the CD40L gene in 3 males of 2 unrelated Chilean families diagnosed as a possible syndrome of hyper-IgM and 3 relatives. RESULTS: We identified a deletion frameshift in the exon 2 (delA225) of the extracellular domain of GD40L gene in one patient and verified the carrier stains of his mother and sister. The other patients showed a low expression of GD40L in activated T cells (65.3% ammd 65.5%) and a normal expressiomi of CD40. No alterations were found in the single strand conformation polymorphism analysis of the CD40L. CONCLUSIONS: These result allowed us to make a definite diagnosis of HIGM1 of a patient, detect female carriers and suggest a HIGM of recessive inheritance with normal CD40 expression in the patients of the second family.
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Assunto principal:
Imunoglobulina M
/
Mutação da Fase de Leitura
/
Ligante de CD40
/
Hipergamaglobulinemia
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
Limite:
Criança
/
Criança, pré-escolar
/
Feminino
/
Humanos
/
Lactente
/
Masculino
País/Região como assunto:
América do Sul
/
Chile
Idioma:
Espanhol
Revista:
Rev. méd. Chile
Assunto da revista:
Medicina
Ano de publicação:
2004
Tipo de documento:
Artigo
País de afiliação:
Chile
Instituição/País de afiliação:
Universidad de Los Andes/CL
/
Universidad de Valparaíso/CL
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