| dc.creator | Luttges D,Pamela | |
| dc.creator | Retamal F,David | |
| dc.creator | Spencer Y,Michael | |
| dc.creator | Carrión A,Flavio | |
| dc.creator | Valenzuela M,Viviana | |
| dc.creator | Navarro V,Sara | |
| dc.creator | Cornejo De L,Mónica | |
| dc.date | 2004-10-01 | |
| dc.date.accessioned | 2019-11-14T12:59:31Z | |
| dc.date.available | 2019-11-14T12:59:31Z | |
| dc.identifier | https://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0034-98872004001000004 | |
| dc.identifier.uri | https://revistaschilenas.uchile.cl/handle/2250/119514 | |
| dc.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) | |
| dc.format | text/html | |
| dc.language | es | |
| dc.publisher | Sociedad Médica de Santiago | |
| dc.relation | 10.4067/S0034-98872004001000004 | |
| dc.rights | info:eu-repo/semantics/openAccess | |
| dc.source | Revista médica de Chile v.132 n.10 2004 | |
| dc.subject | CD40-binding protein, human | |
| dc.subject | Immunoglobulin M | |
| dc.subject | Mutation | |
| dc.title | Síndrome de Hiper-IgM en miembros de 2 familias chilenas no relacionadas: Análisis genético-molecular | |
