Publication
A new case of autosomal recessive agammaglobulinaemia with impaired pre-B cell differentiation due to a large deletion of the IGH locus
| dc.contributor.author | Milili, M | |
| dc.contributor.author | Antunes, H | |
| dc.contributor.author | Blanco-Betancourt, C | |
| dc.contributor.author | Nogueiras, A | |
| dc.contributor.author | Santos, E | |
| dc.contributor.author | Vasconcelos, J | |
| dc.contributor.author | Castro e Melo, J | |
| dc.contributor.author | Schiff, C | |
| dc.date.accessioned | 2013-12-13T15:24:44Z | |
| dc.date.available | 2013-12-13T15:24:44Z | |
| dc.date.issued | 2002 | |
| dc.description.abstract | Males with X-linked agammaglobulinaemia (XLA) due to mutations in the Bruton tyrosine kinase gene constitute the major group of congenital hypogammaglobulinaemia with absence of peripheral B cells. In these cases, blockages between the pro-B and pre-B cell stage in the bone marrow are found. The remaining male and female cases clinically similar to XLA represent a genotypically heterogeneous group of diseases. In these patients, various autosomal recessive disorders have been identified such as mutations affecting IGHM, CD79A, IGLL1 genes involved in the composition of the pre-B cell receptor (pre-BCR) or the BLNK gene implicated in pre-BCR signal transduction. In this paper, we report on a young female patient characterised by a severe non-XLA agammaglobulinaemia that represents a new case of Igmu defect. We show that the B cell blockage at the pro-B to pre-B cell transition is due to a large homologous deletion in the IGH locus encompassing the IGHM gene leading to the inability to form a functional pre-BCR. The deletion extends from the beginning of the diversity (D) region to the IGHG2 gene, with all JH segments and IGHM, IGHD, IGHG3 and IGHG1 genes missing. CONCLUSION: alteration in Igmu expression seems to be relatively frequent and could account for most of the reported cases of autosomal recessive agammaglobulinaemia. | por |
| dc.identifier.citation | Eur J Pediatr. 2002;161(9):479-84 | por |
| dc.identifier.uri | http://hdl.handle.net/10400.23/562 | |
| dc.language.iso | eng | por |
| dc.peerreviewed | yes | por |
| dc.publisher | Springer | por |
| dc.subject | Agamaglobulinemia | por |
| dc.subject | Deleção Cromossómica | por |
| dc.subject | Genes de Imunoglobulinas | por |
| dc.subject | Glicoproteínas de Membrana | por |
| dc.title | A new case of autosomal recessive agammaglobulinaemia with impaired pre-B cell differentiation due to a large deletion of the IGH locus | por |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| rcaap.rights | openAccess | por |
| rcaap.type | article | por |