PubMed

Genetics of hypogammaglobulinemia: what do we really know?

Conley ME.

Curr Opin Immunol. 2009 Oct;21(5):466-71. Epub 2009 Aug 3.PMID: 19651503 [PubMed - in process]Related articles

Genetic and demographic features of X-linked agammaglobulinemia in Eastern and Central Europe: a cohort study.

Tóth B, Volokha A, Mihas A, Pac M, Bernatowska E, Kondratenko I, Polyakov A, Erdos M, Pasic S, Bataneant M, Szaflarska A, Mironska K, Richter D, Stavrik K, Avcin T, Márton G, Nagy K, Dérfalvi B, Szolnoky M, Kalmár A, Belevtsev M, Guseva M, Rugina A, Kriván G, Timár L, Nyul Z, Mosdósi B, Kareva L, Peova S, Chernyshova L, Gherghina I, Serban M, Conley ME, Notarangelo LD, Smith CI, van Dongen J, van der Burg M, Maródi L.

Mol Immunol. 2009 Jun;46(10):2140-6. Epub 2009 May 5.PMID: 19419768 [PubMed - indexed for MEDLINE]Related articles

Primary B cell immunodeficiencies: comparisons and contrasts.

Conley ME, Dobbs AK, Farmer DM, Kilic S, Paris K, Grigoriadou S, Coustan-Smith E, Howard V, Campana D.

Annu Rev Immunol. 2009;27:199-227. Review.PMID: 19302039 [PubMed - indexed for MEDLINE]Related articles

An infant with erythroderma, skin scaling, chronic emesis, and intractable diarrhea.

Redding AR, Lew DB, Conley ME, Pivnick EK.

Clin Pediatr (Phila). 2009 Nov;48(9):978-80. Epub 2008 Oct 2. No abstract available. PMID: 18832538 [PubMed - in process]Related articles

Adults with X-linked agammaglobulinemia: impact of disease on daily lives, quality of life, educational and socioeconomic status, knowledge of inheritance, and reproductive attitudes.

Winkelstein JA, Conley ME, James C, Howard V, Boyle J.

Medicine (Baltimore). 2008 Sep;87(5):253-8.PMID: 18794707 [PubMed - indexed for MEDLINE]Related articles

Gross deletions involving IGHM, BTK, or Artemis: a model for genomic lesions mediated by transposable elements.

van Zelm MC, Geertsema C, Nieuwenhuis N, de Ridder D, Conley ME, Schiff C, Tezcan I, Bernatowska E, Hartwig NG, Sanders EA, Litzman J, Kondratenko I, van Dongen JJ, van der Burg M.

Am J Hum Genet. 2008 Feb;82(2):320-32.PMID: 18252213 [PubMed - indexed for MEDLINE]Related articlesFree article

A minimally hypomorphic mutation in Btk resulting in reduced B cell numbers but no clinical disease.

Conley ME, Farmer DM, Dobbs AK, Howard V, Aiba Y, Shurtleff SA, Kurosaki T.

Clin Exp Immunol. 2008 Apr;152(1):39-44. Epub 2008 Jan 28.PMID: 18241230 [PubMed - indexed for MEDLINE]Related articlesFree article

Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.

Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarström L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J; International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.

J Allergy Clin Immunol. 2007 Oct;120(4):776-94.PMID: 17952897 [PubMed - indexed for MEDLINE]Related articlesFree article

Cutting edge: a hypomorphic mutation in Igbeta (CD79b) in a patient with immunodeficiency and a leaky defect in B cell development.

Dobbs AK, Yang T, Farmer D, Kager L, Parolini O, Conley ME.

J Immunol. 2007 Aug 15;179(4):2055-9.PMID: 17675462 [PubMed - indexed for MEDLINE]Related articlesFree article

A possible bichromatid mutation in a male gamete giving rise to a female mosaic for two different mutations in the X-linked gene WAS.

Dobbs AK, Yang T, Farmer DM, Howard V, Conley ME.

Clin Genet. 2007 Feb;71(2):171-6.PMID: 17250667 [PubMed - indexed for MEDLINE]Related articles

Immunodeficiency: UNC-93B gets a toll call.

Conley ME.

Trends Immunol. 2007 Mar;28(3):99-101. Epub 2007 Jan 19.PMID: 17240194 [PubMed - indexed for MEDLINE]Related articles

X-linked agammaglobulinemia: report on a United States registry of 201 patients.

Winkelstein JA, Marino MC, Lederman HM, Jones SM, Sullivan K, Burks AW, Conley ME, Cunningham-Rundles C, Ochs HD.

Medicine (Baltimore). 2006 Jul;85(4):193-202.PMID: 16862044 [PubMed - indexed for MEDLINE]Related articles

Severe combined immunodeficiency associated with nephrogenic diabetes insipidus and a deletion in the Xq28 region.

Broides A, Ault BH, Arthus MF, Bichet DG, Conley ME.

Clin Immunol. 2006 Aug;120(2):147-55. Epub 2006 Jun 15.PMID: 16781893 [PubMed - indexed for MEDLINE]Related articles

A newly recognized, likely autosomal recessive syndrome comprising agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis, and other features.

Crow YJ, Goodship JA, Wright C, Coady AM, Conley ME, Gennery AR.

Am J Med Genet A. 2006 Jun 1;140(11):1131-5.PMID: 16691627 [PubMed - indexed for MEDLINE]Related articles

Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee Meeting in Budapest, 2005.

Notarangelo L, Casanova JL, Conley ME, Chapel H, Fischer A, Puck J, Roifman C, Seger R, Geha RS; International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.

J Allergy Clin Immunol. 2006 Apr;117(4):883-96.PMID: 16680902 [PubMed - indexed for MEDLINE]Related articles

Diffuse CNS vasculopathy with chronic Epstein-Barr virus infection in X-linked lymphoproliferative disease.

Weeks JK, Helton KJ, Conley ME, Onciu M, Khan RB.

AJNR Am J Neuroradiol. 2006 Apr;27(4):884-6.PMID: 16611784 [PubMed - indexed for MEDLINE]Related articlesFree article

X-linked lymphoproliferative syndrome: an X-cellent question.

Filipovich A, Conley ME, Nichols KE, Sullivan KE.

Clin Immunol. 2006 Jun;119(3):241-4. Epub 2006 Apr 11. No abstract available. PMID: 16581296 [PubMed - indexed for MEDLINE]Related articles

The health status and quality of life of adults with X-linked agammaglobulinemia.

Howard V, Greene JM, Pahwa S, Winkelstein JA, Boyle JM, Kocak M, Conley ME.

Clin Immunol. 2006 Feb-Mar;118(2-3):201-8. Epub 2005 Dec 22.PMID: 16377251 [PubMed - indexed for MEDLINE]Related articles

Genotype/phenotype correlations in X-linked agammaglobulinemia.

Broides A, Yang W, Conley ME.

Clin Immunol. 2006 Feb-Mar;118(2-3):195-200. Epub 2005 Nov 16.PMID: 16297664 [PubMed - indexed for MEDLINE]Related articles

Two independent retrotransposon insertions at the same site within the coding region of BTK.

Conley ME, Partain JD, Norland SM, Shurtleff SA, Kazazian HH Jr.

Hum Mutat. 2005 Mar;25(3):324-5.PMID: 15712380 [PubMed - indexed for MEDLINE]Related articles

Genetic analysis of patients with defects in early B-cell development.

Conley ME, Broides A, Hernandez-Trujillo V, Howard V, Kanegane H, Miyawaki T, Shurtleff SA.

Immunol Rev. 2005 Feb;203:216-34. Review.PMID: 15661032 [PubMed - indexed for MEDLINE]Related articles

The role of inducible co-stimulator (ICOS) in immunodeficiency.

Broides A, Conley ME.

Clin Immunol. 2004 Dec;113(3):221-3. No abstract available. PMID: 15507384 [PubMed - indexed for MEDLINE]Related articles

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.

El Saleeby CM, Suzich J, Conley ME, DeVincenzo JP.

Clin Infect Dis. 2004 Jul 15;39(2):e17-20. Epub 2004 Jul 1.PMID: 15307047 [PubMed - indexed for MEDLINE]Related articles

Human blood IgM "memory" B cells are circulating splenic marginal zone B cells harboring a prediversified immunoglobulin repertoire.

Weller S, Braun MC, Tan BK, Rosenwald A, Cordier C, Conley ME, Plebani A, Kumararatne DS, Bonnet D, Tournilhac O, Tchernia G, Steiniger B, Staudt LM, Casanova JL, Reynaud CA, Weill JC.

Blood. 2004 Dec 1;104(12):3647-54. Epub 2004 Jun 10.PMID: 15191950 [PubMed - indexed for MEDLINE]Related articlesFree article

Cow's milk allergy in a patient with hyper-IgE syndrome.

Hernandez-Trujillo VP, Nguyen WT, Belleau JT, Jeng M, Conley ME, Lew DB.

Ann Allergy Asthma Immunol. 2004 Apr;92(4):469-74.PMID: 15104201 [PubMed - indexed for MEDLINE]Related articles

Early defects in B cell development.

Conley ME.

Curr Opin Allergy Clin Immunol. 2002 Dec;2(6):517-22. Review.PMID: 14752335 [PubMed - indexed for MEDLINE]Related articles

An international study examining therapeutic options used in treatment of Wiskott-Aldrich syndrome.

Conley ME, Saragoussi D, Notarangelo L, Etzioni A, Casanova JL; PAGID; ESID.

Clin Immunol. 2003 Dec;109(3):272-7.PMID: 14697741 [PubMed - indexed for MEDLINE]Related articles

The X-linked hyper-IgM syndrome: clinical and immunologic features of 79 patients.

Winkelstein JA, Marino MC, Ochs H, Fuleihan R, Scholl PR, Geha R, Stiehm ER, Conley ME.

Medicine (Baltimore). 2003 Nov;82(6):373-84.PMID: 14663287 [PubMed - indexed for MEDLINE]Related articles

Genes required for B cell development.

Conley ME.

J Clin Invest. 2003 Dec;112(11):1636-8.PMID: 14660738 [PubMed - indexed for MEDLINE]Related articlesFree article

Immunodeficiency disorders.

Cooper MD, Lanier LL, Conley ME, Puck JM.

Hematology Am Soc Hematol Educ Program. 2003:314-30. Review.PMID: 14633788 [PubMed - indexed for MEDLINE]Related articlesFree article

Immunogenetics. Old genes get a new look.

Conley ME.

Curr Opin Immunol. 2003 Oct;15(5):567-70. Review. No abstract available. PMID: 14499266 [PubMed - indexed for MEDLINE]Related articles

Stem cell transplants for patients with X-linked agammaglobulinemia.

Howard V, Myers LA, Williams DA, Wheeler G, Turner EV, Cunningham JM, Conley ME.

Clin Immunol. 2003 May;107(2):98-102.PMID: 12763478 [PubMed - indexed for MEDLINE]Related articles

Reconstitution of B cell function in murine models of immunodeficiency.

Porpiglia AS, Rohrer J, Conley ME.

Clin Immunol. 2003 May;107(2):90-7.PMID: 12763477 [PubMed - indexed for MEDLINE]Related articles

Clinical findings leading to the diagnosis of X-linked agammaglobulinemia.

Conley ME, Howard V.

J Pediatr. 2002 Oct;141(4):566-71.PMID: 12378199 [PubMed - indexed for MEDLINE]Related articles

Clinical and molecular analysis of patients with defects in micro heavy chain gene.

Lopez Granados E, Porpiglia AS, Hogan MB, Matamoros N, Krasovec S, Pignata C, Smith CI, Hammarstrom L, Bjorkander J, Belohradsky BH, Casariego GF, Garcia Rodriguez MC, Conley ME.

J Clin Invest. 2002 Oct;110(7):1029-35.PMID: 12370281 [PubMed - indexed for MEDLINE]Related articlesFree article

Hypogammaglobulinemia: fifty years later.

Conley ME.

Clin Immunol. 2002 Sep;104(3):201-3. No abstract available. PMID: 12217328 [PubMed - indexed for MEDLINE]Related articles

Lack of IgA in C(mu)-deficient patients.

Pan Q, Matamoros N, Björkander J, Conley ME, Hammarström L.

Nat Immunol. 2002 Jul;3(7):595; author reply 596. No abstract available. PMID: 12087410 [PubMed - indexed for MEDLINE]Related articles

Analysis of SWAP-70 as a candidate gene for non-X-linked hyper IgM syndrome and common variable immunodeficiency.

Rapalus L, Minegishi Y, Lavoie A, Cunningham-Rundles C, Conley ME.

Clin Immunol. 2001 Dec;101(3):270-5.PMID: 11726218 [PubMed - indexed for MEDLINE]Related articles

Variations in the human phospholipase Cgamma2 gene in patients with B-cell defects of unknown etiology.

Wang D, Boylin EC, Minegishi Y, Wen R, Smith CI, Ihle JN, Conley ME.

Immunogenetics. 2001 Sep;53(7):550-6.PMID: 11685467 [PubMed - indexed for MEDLINE]Related articles

Negative selection at the pre-BCR checkpoint elicited by human mu heavy chains with unusual CDR3 regions.

Minegishi Y, Conley ME.

Immunity. 2001 May;14(5):631-41.PMID: 11371364 [PubMed - indexed for MEDLINE]Related articles

A contiguous deletion syndrome of X-linked agammaglobulinemia and sensorineural deafness.

Richter D, Conley ME, Rohrer J, Myers LA, Zahradka K, Kelecić J, Sertić J, Stavljenić-Rukavina A.

Pediatr Allergy Immunol. 2001 Apr;12(2):107-11.PMID: 11338284 [PubMed - indexed for MEDLINE]Related articles

Genetics of primary immunodeficiency diseases.

Conley ME.

Rev Immunogenet. 2000;2(2):231-42. Review.PMID: 11258420 [PubMed - indexed for MEDLINE]Related articles

X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling.

Döffinger R, Smahi A, Bessia C, Geissmann F, Feinberg J, Durandy A, Bodemer C, Kenwrick S, Dupuis-Girod S, Blanche S, Wood P, Rabia SH, Headon DJ, Overbeek PA, Le Deist F, Holland SM, Belani K, Kumararatne DS, Fischer A, Shapiro R, Conley ME, Reimund E, Kalhoff H, Abinun M, Munnich A, Israël A, Courtois G, Casanova JL.

Nat Genet. 2001 Mar;27(3):277-85.PMID: 11242109 [PubMed - indexed for MEDLINE]Related articles

Hypogammaglobulinemia and reduced numbers of B-cells in children with myelodysplastic syndrome.

Srivannaboon K, Conley ME, Coustan-Smith E, Wang WC.

J Pediatr Hematol Oncol. 2001 Feb;23(2):122-5.PMID: 11216704 [PubMed - indexed for MEDLINE]Related articles

Defects in early B-cell development: comparing the consequences of abnormalities in pre-BCR signaling in the human and the mouse.

Conley ME, Rohrer J, Rapalus L, Boylin EC, Minegishi Y.

Immunol Rev. 2000 Dec;178:75-90. Review.PMID: 11213809 [PubMed - indexed for MEDLINE]Related articles

V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.

Villa A, Sobacchi C, Notarangelo LD, Bozzi F, Abinun M, Abrahamsen TG, Arkwright PD, Baniyash M, Brooks EG, Conley ME, Cortes P, Duse M, Fasth A, Filipovich AM, Infante AJ, Jones A, Mazzolari E, Muller SM, Pasic S, Rechavi G, Sacco MG, Santagata S, Schroeder ML, Seger R, Strina D, Ugazio A, Väliaho J, Vihinen M, Vogler LB, Ochs H, Vezzoni P, Friedrich W, Schwarz K.

Blood. 2001 Jan 1;97(1):81-8.PMID: 11133745 [PubMed - indexed for MEDLINE]Related articlesFree article

The transcription factor Bright associates with Bruton's tyrosine kinase, the defective protein in immunodeficiency disease.

Webb CF, Yamashita Y, Ayers N, Evetts S, Paulin Y, Conley ME, Smith EA.

J Immunol. 2000 Dec 15;165(12):6956-65.PMID: 11120822 [PubMed - indexed for MEDLINE]Related articlesFree article

Mutations in activation-induced cytidine deaminase in patients with hyper IgM syndrome.

Minegishi Y, Lavoie A, Cunningham-Rundles C, Bédard PM, Hébert J, Côté L, Dan K, Sedlak D, Buckley RH, Fischer A, Durandy A, Conley ME.

Clin Immunol. 2000 Dec;97(3):203-10.PMID: 11112359 [PubMed - indexed for MEDLINE]Related articles

Molecular evidence of ocular Epstein-Barr virus infection.

Slobod KS, Sandlund JT, Spiegel PH, Haik B, Hurwitz JL, Conley ME, Bowman LC, Benaim E, Jenkins JJ, Stocks RM, Gan Y, Sixbey JW.

Clin Infect Dis. 2000 Jul;31(1):184-8.PMID: 10913420 [PubMed - indexed for MEDLINE]Related articles

Early B cell defects.

Gaspar HB, Conley ME.

Clin Exp Immunol. 2000 Mar;119(3):383-9. Review. No abstract available. PMID: 10691907 [PubMed - indexed for MEDLINE]Related articlesFree article