dc.contributor.author | Minegishi, Y | |
dc.contributor.author | Coustan-Smith, E | |
dc.contributor.author | Rapalus, L | |
dc.contributor.author | Ersoy, F | |
dc.contributor.author | Campana, D | |
dc.contributor.author | Conley, ME | |
dc.date.accessioned | 2019-12-10T10:41:29Z | |
dc.date.available | 2019-12-10T10:41:29Z | |
dc.date.issued | 1999 | |
dc.identifier.issn | 0021-9738 | |
dc.identifier.uri | https://doi.org/10.1172/JCI7696 | |
dc.identifier.uri | http://hdl.handle.net/11655/14182 | |
dc.description.abstract | Mutations in Btk, mu heavy chain, or the surrogate light chain account for 85-90% of patients with early onset hypogammaglobulinemia and absent B cells. The nature of the defect in the remaining patients is unknown. We screened 25 such patients for mutations in genes encoding components of the pre-B-cell receptor (pre-BCR) complex. A 2-year-old girl was found to have a homozygous splice defect in Ig alpha, a transmembrane protein that forms part of the Ig alpha/Ig beta signal-transduction module of the pre-BCR. Studies in mice suggest that the Ig beta component of the pre-BCR influences V-DJ rearrangement before cell-surface expression of mu heavy chain. To determine whether Ig alpha plays a similar role, we compared B-cell development in an Ig alpha-deficient patient with that seen in a mu heavy chain-deficient patient. By immunofluorescence, both patients had a complete block in B-cell development at the pro-B to pre-B transition; both patients also had an equivalent number and diversity of rearranged V-DJ sequences. These results indicate that mutations in Ig alpha can be a cause of agammaglobulinemia. Furthermore, they suggest that Ig alpha does not play a critical role in B-cell development until it is expressed, along with mu heavy chain, as part of the pre-BCR. | |
dc.language.iso | en | |
dc.publisher | Amer Soc Clinical Investigation Inc | |
dc.relation.isversionof | 10.1172/JCI7696 | |
dc.rights | info:eu-repo/semantics/openAccess | |
dc.subject | Research & Experimental Medicine | |
dc.title | Mutations In Ig Alpha (Cd79A) Result In In B-Cell Development | |
dc.type | info:eu-repo/semantics/article | |
dc.relation.journal | Journal Of Clinical Investigation | |
dc.contributor.department | Çocuk Sağlığı ve Hastalıkları | |
dc.identifier.volume | 104 | |
dc.identifier.issue | 8 | |
dc.identifier.startpage | 1115 | |
dc.identifier.endpage | 1121 | |
dc.description.index | WoS | |
dc.description.index | Scopus | |