Genomes and Genes
Affiliation: St. Jude Children's Research Hospital
- Mutations in the human lambda5/14.1 gene result in B cell deficiency and agammaglobulinemiaY Minegishi
Department of Immunology, St Jude Children s Research Hospital, Memphis, Tennesse 38105, USA
J Exp Med 187:71-7. 1998..1. These findings indicate that expression of the functional lambda5/14.1 is critical for B cell development in the human...
- Mutations in Igalpha (CD79a) result in a complete block in B-cell developmentY Minegishi
Departments of Immunology, Hematology Oncology, and Pathology, St Jude Children s Research Hospital, Memphis, Tennessee 38105, USA
J Clin Invest 104:1115-21. 1999..Furthermore, they suggest that Igalpha 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...
- Defects in early B-cell development: comparing the consequences of abnormalities in pre-BCR signaling in the human and the mouseM E Conley
Department of Immunology, St Jude Children s Research Hospital, Memphis, TN 38101 0318, USA
Immunol Rev 178:75-90. 2000..These findings suggest that requirements for signaling through the pre-BCR are more stringent in the human compared to the mouse. Possible explanations for this observation are discussed...
- An essential role for BLNK in human B cell developmentY Minegishi
Department of Immunology, Department of Hematology Oncology, St Jude Children s Research Hospital, Memphis, TN 38105, USA
Science 286:1954-7. 1999..The immune system and overall growth and development were otherwise normal in this patient, suggesting that BLNK function is highly specific...
- Analysis of SWAP-70 as a candidate gene for non-X-linked hyper IgM syndrome and common variable immunodeficiencyL Rapalus
Department of Immunology, St Jude Children s Research Hospital, Memphis, Tennessee, 38105, USA
Clin Immunol 101:270-5. 2001..However, none of the alterations appeared to be associated with disease in the patients screened...
- Negative selection at the pre-BCR checkpoint elicited by human mu heavy chains with unusual CDR3 regionsY Minegishi
Department of Immunology, St. Jude Children's Research Hospital, University of Tennessee College of Medicine, Memphis, TN 38105, USA
Immunity 14:631-41. 2001..These results suggest that some mu heavy chains elicit negative selection at the pro-B cell to pre-B cell transition...
- Variations in the human phospholipase Cgamma2 gene in patients with B-cell defects of unknown etiologyD Wang
Department of Biochemistry, St Jude Children s Research Hospital, 332 N Lauderdale, Memphis, TN 38105, USA
Immunogenetics 53:550-6. 2001..Although 24 polymorphic variants of this gene were found in 35 patients, we did not identify any alterations that were likely to be the cause of disease...
- Mutations in btk in patients with presumed X-linked agammaglobulinemiaM E Conley
Department of Pediatrics, University of Tennessee College of Medicine, Memphis, TN, USA
Am J Hum Genet 62:1034-43. 1998..These studies indicate that 90%-95% of males with presumed XLA have mutations in Btk. The other patients are likely to have defects in other genes...
- Mutations in activation-induced cytidine deaminase in patients with hyper IgM syndromeY Minegishi
Department of Immunology, St Jude Children s Research Hospital, Memphis, Tennessee 38101 0318, USA
Clin Immunol 97:203-10. 2000..Lymphoid hyperplasia was seen in patients with hyper IgM syndrome and normal AID as well as the patients with hyper IgM syndrome and defects in AID...