M E Conley

Summary

Affiliation: St. Jude Children's Research Hospital
Country: USA

Publications

  1. pmc Mutations in btk in patients with presumed X-linked agammaglobulinemia
    M E Conley
    Department of Pediatrics, University of Tennessee College of Medicine, Memphis, TN, USA
    Am J Hum Genet 62:1034-43. 1998
  2. pmc Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency
    Waleed Al-Herz
    Department of Pediatrics, Kuwait University Kuwait City, Kuwait
    Front Immunol 2:54. 2011
  3. ncbi Genetics of primary immunodeficiency diseases
    M E Conley
    Department of Pediatrics, University of Tennessee College of Medicine, Memphis, TN, USA
    Rev Immunogenet 2:231-42. 2000
  4. ncbi Severe combined immunodeficiency associated with nephrogenic diabetes insipidus and a deletion in the Xq28 region
    Arnon Broides
    Department of Immunology, University of Tennessee College of Medicine, St Jude Children s Research Hospital, 332 North Lauderdale, Memphis, TN 38105, USA
    Clin Immunol 120:147-55. 2006
  5. pmc A minimally hypomorphic mutation in Btk resulting in reduced B cell numbers but no clinical disease
    M E Conley
    Department of Pediatrics, University of Tennessee College of Medicine, St Jude Children s Research Hospital, Memphis, TN 38105, USA
    Clin Exp Immunol 152:39-44. 2008
  6. ncbi Two independent retrotransposon insertions at the same site within the coding region of BTK
    Mary Ellen Conley
    Department of Pediatrics, University of Tennessee College of Medicine, Memphis, Tennessee 38105, USA
    Hum Mutat 25:324-5. 2005
  7. ncbi Defects in early B-cell development: comparing the consequences of abnormalities in pre-BCR signaling in the human and the mouse
    M E Conley
    Department of Immunology, St Jude Children s Research Hospital, Memphis, TN 38101 0318, USA
    Immunol Rev 178:75-90. 2000
  8. doi Primary B cell immunodeficiencies: comparisons and contrasts
    Mary Ellen Conley
    Department of Pediatrics, University of Tennessee College of Medicine, Memphis, Tennessee 38163, USA
    Annu Rev Immunol 27:199-227. 2009
  9. pmc Genetics of hypogammaglobulinemia: what do we really know?
    Mary Ellen Conley
    Department of Pediatrics, University of Tennessee College of Medicine, Memphis, TN, USA
    Curr Opin Immunol 21:466-71. 2009
  10. ncbi Immunodeficiency: UNC-93B gets a toll call
    Mary Ellen Conley
    Department of Pediatrics, University of Tennessee College of Medicine, Memphis, TN 38103, USA
    Trends Immunol 28:99-101. 2007

Collaborators

Detail Information

Publications49

  1. pmc Mutations in btk in patients with presumed X-linked agammaglobulinemia
    M 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...
  2. pmc Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency
    Waleed Al-Herz
    Department of Pediatrics, Kuwait University Kuwait City, Kuwait
    Front Immunol 2:54. 2011
    ..For each disorders, the key clinical and laboratory features are provided. This updated classification is meant to help in the diagnostic approach to patients with these diseases...
  3. ncbi Genetics of primary immunodeficiency diseases
    M E Conley
    Department of Pediatrics, University of Tennessee College of Medicine, Memphis, TN, USA
    Rev Immunogenet 2:231-42. 2000
    ..Not all genes responsible for immunodeficiency have been identified. As many as 20 to 30% of patients with clinical and laboratory evidence of single gene defects of the immune system do not fit any well described clinical disorder...
  4. ncbi Severe combined immunodeficiency associated with nephrogenic diabetes insipidus and a deletion in the Xq28 region
    Arnon Broides
    Department of Immunology, University of Tennessee College of Medicine, St Jude Children s Research Hospital, 332 North Lauderdale, Memphis, TN 38105, USA
    Clin Immunol 120:147-55. 2006
    ..These results are consistent with an X-linked form of SCID, due to the loss of regulatory elements that control the response to hypoxia in hematopoietic cells...
  5. pmc A minimally hypomorphic mutation in Btk resulting in reduced B cell numbers but no clinical disease
    M E Conley
    Department of Pediatrics, University of Tennessee College of Medicine, St Jude Children s Research Hospital, Memphis, TN 38105, USA
    Clin Exp Immunol 152:39-44. 2008
    ..These findings indicate that even a modest decrease in Btk function can impair B cell proliferation or survival. However, a mutation in Btk and reduced numbers of B cells are not always associated with clinical disease...
  6. ncbi Two independent retrotransposon insertions at the same site within the coding region of BTK
    Mary Ellen Conley
    Department of Pediatrics, University of Tennessee College of Medicine, Memphis, Tennessee 38105, USA
    Hum Mutat 25:324-5. 2005
    ..A better understanding of the factors that make this site vulnerable will shed light on the mechanisms of LINE-1 mediated insertional mutagenesis...
  7. ncbi Defects in early B-cell development: comparing the consequences of abnormalities in pre-BCR signaling in the human and the mouse
    M 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...
  8. doi Primary B cell immunodeficiencies: comparisons and contrasts
    Mary Ellen Conley
    Department of Pediatrics, University of Tennessee College of Medicine, Memphis, Tennessee 38163, USA
    Annu Rev Immunol 27:199-227. 2009
    ..Identifying the genetic and environmental factors that influence the clinical phenotype may enhance patient care and our understanding of normal B cell development...
  9. pmc Genetics of hypogammaglobulinemia: what do we really know?
    Mary Ellen Conley
    Department of Pediatrics, University of Tennessee College of Medicine, Memphis, TN, USA
    Curr Opin Immunol 21:466-71. 2009
    ..Distinguishing between these two types of gene defects is essential for informative genetic counseling...
  10. ncbi Immunodeficiency: UNC-93B gets a toll call
    Mary Ellen Conley
    Department of Pediatrics, University of Tennessee College of Medicine, Memphis, TN 38103, USA
    Trends Immunol 28:99-101. 2007
    ....
  11. ncbi An international study examining therapeutic options used in treatment of Wiskott-Aldrich syndrome
    Mary Ellen Conley
    Department of Pediatrics, University of Tennessee College of Medicine, Memphis, TN 38101, USA
    Clin Immunol 109:272-7. 2003
    ..Splenectomy was used more sparingly. Stem cell transplant was more likely to be used in centers providing care for 10 or more patients. Studies that better define prognostic markers and optimal therapy are needed...
  12. doi Definition of primary immunodeficiency in 2011: a "trialogue" among friends
    Mary Ellen Conley
    University of Tennessee College of Medicine, St Jude Children s Research Hospital, Memphis, 38105, USA
    Ann N Y Acad Sci 1238:1-6. 2011
    ..Three friends with an interest in both the clinical and scientific aspects of primary immunodeficiency carried out a discussion or trialogue to address some of these issues...
  13. ncbi Genetic analysis of patients with defects in early B-cell development
    Mary Ellen Conley
    Department of Pediatrics, University of Tennessee College of Medicine, Memphis, TN 38105, USA
    Immunol Rev 203:216-34. 2005
    ..Polymorphic variants in the components of the pre-B cell and B-cell receptor complex, particularly micro heavy chain and lambda5, may contribute to the severity of XLA...
  14. ncbi Early defects in B cell development
    Mary Ellen Conley
    Department of Pediatrics, University of Tennessee College of Medicine, Memphis, 38105, USA
    Curr Opin Allergy Clin Immunol 2:517-22. 2002
    ..Recent clinical studies in patients with genetically proven X-linked or autosomal recessive agammaglobulinemia provide some guidelines that should influence our management of patients with suspected immunodeficiency...
  15. ncbi An essential role for BLNK in human B cell development
    Y 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...
  16. ncbi A possible bichromatid mutation in a male gamete giving rise to a female mosaic for two different mutations in the X-linked gene WAS
    A K Dobbs
    Department of Immunology, St Jude Children s Research Hospital, University of Tennessee, Memphis, TN 38105, USA
    Clin Genet 71:171-6. 2007
    ..These findings are most consistent with the mutations originating in a male gamete with different mutations on the two strands of DNA, a bichromatid mutation...
  17. ncbi Variations in the human phospholipase Cgamma2 gene in patients with B-cell defects of unknown etiology
    D 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...
  18. pmc Mutations in Igalpha (CD79a) result in a complete block in B-cell development
    Y 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...
  19. pmc A single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome
    Q Lin
    Department of Immunology, St Jude Children s Research Hospital, Memphis, Tennessee 38105, USA
    J Clin Invest 97:196-201. 1996
    ..These studies document the utility of SSCP analysis for both mutation detection and carrier detection in X-linked hyper IgM syndrome...
  20. ncbi Analysis of SWAP-70 as a candidate gene for non-X-linked hyper IgM syndrome and common variable immunodeficiency
    L 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...
  21. ncbi The genomic structure of human BTK, the defective gene in X-linked agammaglobulinemia
    J Rohrer
    Department of Immunology, St Jude Children s Research Hospital, Memphis, TN 38111
    Immunogenetics 40:319-24. 1994
    ..It will also be useful in diagnostic studies, including carrier detection, and in studies directed towards gene therapy or gene replacement...
  22. ncbi Negative selection at the pre-BCR checkpoint elicited by human mu heavy chains with unusual CDR3 regions
    Y 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...
  23. ncbi Expression and activation of the nonreceptor tyrosine kinase Tec in human B cells
    A Kitanaka
    Department of Hematology Oncology, St Jude Children s Research Hospital, Lauderdale, Memphis, TN 38105, USA
    Blood 91:940-8. 1998
    ..We conclude that Tec is expressed and can be stimulated throughout human B-cell differentiation, implying that this tyrosine kinase plays a role in B-cell development and activation...
  24. pmc Mutations in the human lambda5/14.1 gene result in B cell deficiency and agammaglobulinemia
    Y 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...
  25. ncbi Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinase
    M E Conley
    Department of Pediatrics, University of Tennessee College of Medicine, Memphis
    Hum Mol Genet 3:1751-6. 1994
    ..These studies document the considerable variability in the Btk mutations causing XLA and they demonstrate an approach that will be useful for carrier detection as well as mutation identification...
  26. ncbi Mutations in activation-induced cytidine deaminase in patients with hyper IgM syndrome
    Y 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...
  27. pmc Genes required for B cell development
    Mary Ellen Conley
    Department of Immunology, St Judes Children s Research Hospital, Memphis, Tennessee 38105, USA
    J Clin Invest 112:1636-8. 2003
    ..It will be interesting to determine whether the protein encoded by this gene interacts with the pre-B cell receptor signal transduction pathway or is involved in a new pathway...
  28. ncbi Clinical findings leading to the diagnosis of X-linked agammaglobulinemia
    Mary Ellen Conley
    Department of Immunology, St Jude Children s Research Hospital, University of Tennessee College of Medicine, Memphis, Tennesee 38105, USA
    J Pediatr 141:566-71. 2002
    ....
  29. doi Frequent mutations in SH2D1A (XLP) in males presenting with high-grade mature B-cell neoplasms
    J T Sandlund
    Department of Oncology, St Jude Children s Research Hospital, Memphis, Tennessee, USA
    Pediatr Blood Cancer 60:E85-7. 2013
    ..Prospective screening for XLP in males with B-cell lymphoma at the time of initial diagnosis should be considered...
  30. ncbi Quantitative effects of palivizumab and donor-derived T cells on chronic respiratory syncytial virus infection, lung disease, and fusion glycoprotein amino acid sequences in a patient before and after bone marrow transplantation
    C M El Saleeby
    Department of Infectious Diseases, St Jude Children s Research Hospital, Memphis, TN 38105, USA
    Clin Infect Dis 39:e17-20. 2004
    ..Donor lymphocytes, including CD8 cells, appeared to markedly reduce the RSV load but increased the pulmonary symptoms. Immunosuppressive therapy ameliorated lung disease but allowed the RSV load to rebound...
  31. pmc Membranous glomerulopathy in an adult patient with X-linked agammaglobulinemia receiving intravenous gammaglobulin
    L M Endo
    Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama 35294 2182, USA
    J Investig Allergol Clin Immunol 21:405-9. 2011
    ..Immune complex deposition in the subepithelial zone of glomerular capillaries can lead to membranous glomerulopathy...
  32. ncbi Molecular evidence of ocular Epstein-Barr virus infection
    K S Slobod
    Departments of Infectious Diseases, St Jude Children s Research Hospital, and Department of Pediatrics, University of Tennessee, Memphis, Tennessee, TN, USA
    Clin Infect Dis 31:184-8. 2000
    ..Recognition of EBV-induced ocular disease as an initial presentation of clinical EBV infection is important to the practitioner because of the ubiquitous nature of this herpesvirus...
  33. ncbi Stem cell transplants for patients with X-linked agammaglobulinemia
    Vanessa Howard
    Department of Immunology, St Jude Children s Research Hospital, Memphis, TN 38105, USA
    Clin Immunol 107:98-102. 2003
    ..It is likely that successful engraftment will require more aggressive immunosupressive medications...
  34. pmc Adults with X-linked agammaglobulinemia: impact of disease on daily lives, quality of life, educational and socioeconomic status, knowledge of inheritance, and reproductive attitudes
    Jerry A Winkelstein
    Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA
    Medicine (Baltimore) 87:253-8. 2008
    ..The results of the current study suggest that although the disease impacts the daily lives of adults with XLA, they still become productive members of society and excel in many areas...
  35. ncbi Cutting edge: a hypomorphic mutation in Igbeta (CD79b) in a patient with immunodeficiency and a leaky defect in B cell development
    A Kerry Dobbs
    Department of Immunology, St Jude Children s Research Hospital, Memphis, TN 38105, USA
    J Immunol 179:2055-9. 2007
    ..The results show that minor changes in the ability of the Igalpha/Igbeta complex to bring the BCR to the cell surface have profound effects on B cell development...
  36. pmc Clinical and molecular analysis of patients with defects in micro heavy chain gene
    Eduardo Lopez Granados
    Department of Immunology, St Jude Children s Research Hospital, Memphis, Tennessee 38101, USA
    J Clin Invest 110:1029-35. 2002
    ..Our study indicates that at least 20-30% of patients with autosomal recessive defects in B cell development have mutations in the micro heavy chain...
  37. ncbi Genotype/phenotype correlations in X-linked agammaglobulinemia
    Arnon Broides
    Department of Immunology, St Jude Children s Research Hospital, Memphis, USA
    Clin Immunol 118:195-200. 2006
    ....
  38. ncbi Reconstitution of B cell function in murine models of immunodeficiency
    Andrea S Porpiglia
    Department of Immunology, St Jude Children s Research Hospital, Memphis, TN 38105, USA
    Clin Immunol 107:90-7. 2003
    ..These results suggest that myelotoxic drugs may not be needed to achieve B cell engraftment in B-cell-deficient subjects...
  39. ncbi Diffuse CNS vasculopathy with chronic Epstein-Barr virus infection in X-linked lymphoproliferative disease
    J K Weeks
    Department of Radiological Sciences, St Jude Children s Research Hospital, Memphis, TN 38105 3300, USA
    AJNR Am J Neuroradiol 27:884-6. 2006
    ..In addition to Epstein-Barr virus encephalitis, CNS lymphoproliferative disease, and lymphoma, this patient also developed MR angiographic evidence of diffuse fusiform aneurysmal dilation of intracranial vessels...
  40. ncbi The health status and quality of life of adults with X-linked agammaglobulinemia
    Vanessa Howard
    Department of Immunology, St Jude Children s Research Hospital, Memphis, TN 38105, USA
    Clin Immunol 118:201-8. 2006
    ..These results indicate that most adults with XLA are moderately healthy and lead productive lives...
  41. ncbi The X-linked hyper-IgM syndrome: clinical and immunologic features of 79 patients
    Jerry A Winkelstein
    Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
    Medicine (Baltimore) 82:373-84. 2003
    ..carinii and 1 cytomegalovirus), 2 of encephalitis (1 ECHO virus and 1 cytomegalovirus), 2 of malignancy (both hepatocellular carcinoma), 1 of sclerosing cholangitis caused by Cryptosporidium, and 1 of hemolytic uremic syndrome...
  42. ncbi Immunogenetics. Old genes get a new look
    Mary Ellen Conley
    Curr Opin Immunol 15:567-70. 2003
  43. ncbi Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee Meeting in Budapest, 2005
    Luigi Notarangelo
    Department of Pediatrics, University of Brescia Spedali Civili, Italy
    J Allergy Clin Immunol 117:883-96. 2006
    ..As a result of this work, new entities have been included, and the nomenclature of some PIDs (specifically of the various forms of class-switch recombination defects, previously known as hyper-IgM syndromes) has been changed...
  44. pmc Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee
    Raif S Geha
    Division of Immunology, Children s Hospital, Boston, MA 02115, USA
    J Allergy Clin Immunol 120:776-94. 2007
    ..In its last meeting in Jackson Hole, Wyo, after 3 days of intense scientific presentations and discussions, the committee has updated the classification of PID, as reported in this article...
  45. ncbi The role of inducible co-stimulator (ICOS) in immunodeficiency
    Arnon Broides
    Clin Immunol 113:221-3. 2004
  46. pmc Human blood IgM "memory" B cells are circulating splenic marginal zone B cells harboring a prediversified immunoglobulin repertoire
    Sandra Weller
    Institut National de Santé et de la Recherche Médicale U373, Paris, France
    Blood 104:3647-54. 2004
    ..It is therefore proposed that these IgM(+)IgD(+)CD27(+) B cells provide the splenic marginal zone with a diversified and protective preimmune repertoire in charge of the responses against encapsulated bacteria...
  47. ncbi Lack of IgA in C(mu)-deficient patients
    Qiang Pan
    Nat Immunol 3:595; author reply 596. 2002
  48. ncbi Hypogammaglobulinemia: fifty years later
    Mary Ellen Conley
    Clin Immunol 104:201-3. 2002
  49. ncbi X-linked agammaglobulinemia: report on a United States registry of 201 patients
    Jerry A Winkelstein
    United States Immune Deficiency Network, Immune Deficiency Foundation, Johns Hopkins University School of Medicine, Baltimore, MD, USA
    Medicine (Baltimore) 85:193-202. 2006
    ....