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
Article
em Es
| LILACS
| ID: lil-454000
Biblioteca responsável:
BR1.1
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 ANDMETHODS:
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:
1
Coleções:
01-internacional
Base de dados:
LILACS
Assunto principal:
Imunoglobulina M
/
Mutação da Fase de Leitura
/
Ligante de CD40
/
Hipergamaglobulinemia
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
País/Região como assunto:
America do sul
/
Chile
Idioma:
Es
Revista:
Rev. méd. Chile
Assunto da revista:
MEDICINA
Ano de publicação:
2004
Tipo de documento:
Article
País de afiliação:
Chile
País de publicação:
Chile