Síndrome de Hiper-IgM en miembros de 2 familias chilenas no relacionadas: Análisis genético-molecular

Background: Hyper-IgM syndrome (HIGM) is a rare primary immunodeficiency used to describe a heterogeneous group of disorders characterized by recurrent bacterial infections, normal or elevated serum IgM levels and low or absent serum IgG, IgA and IgE. Aim: To make definitive diagnosis, detect mutati...

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Autores principales:	Luttges D,Pamela, Retamal F,David, Spencer Y,Michael, Carrión A,Flavio, Valenzuela M,Viviana, Navarro V,Sara, Cornejo De L,Mónica
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2004
Materias:	CD40-binding protein, human Immunoglobulin M Mutation
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872004001000004
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spelling	oai:scielo:S0034-988720040010000042004-12-15Síndrome de Hiper-IgM en miembros de 2 familias chilenas no relacionadas: Análisis genético-molecularLuttges D,PamelaRetamal F,DavidSpencer Y,MichaelCarrión A,FlavioValenzuela M,VivianaNavarro V,SaraCornejo De L,Mónica CD40-binding protein, human Immunoglobulin M Mutation Background: Hyper-IgM syndrome (HIGM) is a rare primary immunodeficiency used to describe a heterogeneous group of disorders characterized by recurrent bacterial infections, 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 CD40L gene in one patient and verified the carrier status of his mother and sister. The other patients showed a low expression of CD40L in activated T cells (65.3% and 65.5%) and a normal expression of CD40. No alterations were found in the single strand conformation polymorphism analysis of the CD40L. Conclusions: These result allowed us to make a definitive 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 (Rev Méd Chile 2004; 132: 1179-88)info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.132 n.10 20042004-10-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872004001000004es10.4067/S0034-98872004001000004
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	CD40-binding protein, human Immunoglobulin M Mutation
spellingShingle	CD40-binding protein, human Immunoglobulin M Mutation Luttges D,Pamela Retamal F,David Spencer Y,Michael Carrión A,Flavio Valenzuela M,Viviana Navarro V,Sara Cornejo De L,Mónica Síndrome de Hiper-IgM en miembros de 2 familias chilenas no relacionadas: Análisis genético-molecular
description	Background: Hyper-IgM syndrome (HIGM) is a rare primary immunodeficiency used to describe a heterogeneous group of disorders characterized by recurrent bacterial infections, 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 CD40L gene in one patient and verified the carrier status of his mother and sister. The other patients showed a low expression of CD40L in activated T cells (65.3% and 65.5%) and a normal expression of CD40. No alterations were found in the single strand conformation polymorphism analysis of the CD40L. Conclusions: These result allowed us to make a definitive 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 (Rev Méd Chile 2004; 132: 1179-88)
author	Luttges D,Pamela Retamal F,David Spencer Y,Michael Carrión A,Flavio Valenzuela M,Viviana Navarro V,Sara Cornejo De L,Mónica
author_facet	Luttges D,Pamela Retamal F,David Spencer Y,Michael Carrión A,Flavio Valenzuela M,Viviana Navarro V,Sara Cornejo De L,Mónica
author_sort	Luttges D,Pamela
title	Síndrome de Hiper-IgM en miembros de 2 familias chilenas no relacionadas: Análisis genético-molecular
title_short	Síndrome de Hiper-IgM en miembros de 2 familias chilenas no relacionadas: Análisis genético-molecular
title_full	Síndrome de Hiper-IgM en miembros de 2 familias chilenas no relacionadas: Análisis genético-molecular
title_fullStr	Síndrome de Hiper-IgM en miembros de 2 familias chilenas no relacionadas: Análisis genético-molecular
title_full_unstemmed	Síndrome de Hiper-IgM en miembros de 2 familias chilenas no relacionadas: Análisis genético-molecular
title_sort	síndrome de hiper-igm en miembros de 2 familias chilenas no relacionadas: análisis genético-molecular
publisher	Sociedad Médica de Santiago
publishDate	2004
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872004001000004
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Síndrome de Hiper-IgM en miembros de 2 familias chilenas no relacionadas: Análisis genético-molecular

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