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   CD40Lbase
   Variation registry for  X-linked Hyper-IgM syndrome (XHIM)


CD40Lbase mutation publications

[2009] [2008] [2007] [2005] [2003] [2002] [2001] [1998] [1997] [1996] [1995] [1994] [1993]

Search PubMed latest citations for CD40L mutations

    2009

  • Clinical and laboratory findings in hyper-IgM syndrome with novel CD40L and AICDA mutations.
    Aghamohammadi A, Parvaneh N, Rezaei N, Moazzami K, Kashef S, Abolhassani H, Imanzadeh A, Mohammadi J, Hammarström L
    J Clin Immunol 2009(6): 769-76 [PubMed abstract].

  • Molecular characterization of patients with X-linked Hyper-IgM syndrome: description of two novel CD40L mutations.
    Rangel-Santos A, Wakim VL, Jacob CM, Pastorino AC, Cunha JM, Collanieri AC, Niemela JE, Grumach AS, Duarte AJ, Moraes-Vasconcelos D, Oliveira JB
    Scand J Immunol 2009(2): 169-73 [PubMed abstract].

  • Mutation analysis in primary immunodeficiency diseases: case studies.
    Hsu AP, Fleisher TA, Niemela JE
    Curr Opin Allergy Clin Immunol 2009(6): 517-24 [PubMed abstract].

    2008

  • Molecular genetic analysis of Hungarian patients with the hyper-immunoglobulin M syndrome.
    Erdos M, Lakos G, Dérfalvi B, Notarangelo LD, Durandy A, Maródi L
    Mol Immunol 2008(1): 278-82 [PubMed abstract].

    2007

  • Clinical follow-up of 11 Argentinian CD40L-deficient patients with 7 unique mutations including the so-called "milder" mutants.
    Danielian S, Oleastro M, Eva Rivas M, Cantisano C, Zelazko M
    J Clin Immunol 2007(4): 455-9 [PubMed abstract].

  • HIGM syndrome caused by insertion of an AluYb8 element in exon 1 of the CD40LG gene.
    Apoil PA, Kuhlein E, Robert A, Rubie H, Blancher A
    Immunogenetics 2007(1): 17-23 [PubMed abstract].

  • Hyper-immunoglobulin M syndrome caused by a mutation in the promotor for CD40L.
    Van Hoeyveld E, Zhang PX, De Boeck K, Fuleihan R, Bossuyt X
    Immunology 2007(4): 497-501 [PubMed abstract].

    2005

  • Critical function of the CD40 pathway in parvovirus B19 infection revealed by a hypomorphic CD40 ligand mutation.
    Blaeser F, Kelly M, Siegrist K, Storch GA, Buller RS, Whitlock J, Truong N, Chatila TA
    Clin Immunol 2005(3): 231-7 [PubMed abstract].

  • Mutational screening of the CD40 ligand (CD40L) gene in patients with X linked hyper-IgM syndrome (XHIM) and determination of carrier status in female relatives.
    Prasad ML, Velickovic M, Weston SA, Benson EM
    J Clin Pathol 2005(1): 90-2 [PubMed abstract].

  • Hyper-IgM1 syndrome with interstitial pneumonia and diarrhea caused by coxsackievirus B4 in a 3-month-old infant.
    Lin SC, Shyur SD, Ma YC, Huang LH, Lee WI
    Ann Allergy Asthma Immunol 2005(1): 93-7 [PubMed abstract].

  • Molecular analysis of a large cohort of patients with the hyper immunoglobulin M (IgM) syndrome.
    Lee WI, Torgerson TR, Schumacher MJ, Yel L, Zhu Q, Ochs HD
    Blood 2005(5): 1881-90 [PubMed abstract].

  • De novo mutation causing X-linked hyper-IgM syndrome: a family study in Taiwan.
    Ma YC, Lee WI, Shyur SD, Lin SC, Huang LH, Wu JY
    Asian Pac J Allergy Immunol 2005(1): 53-9 [PubMed abstract].

    2003

  • Mutations of CD40 ligand in two patients with hyper-IgM syndrome.
    García-Pérez MA, Paz-Artal E, Corell A, Moreno A, López-Goyanes A, García-Martín F, Vázquez R, Pacho A, Romo E, Allende LM
    Immunobiology 2003(4): 285-94 [PubMed abstract].

  • Immunological and genetic analysis of 65 patients with a clinical suspicion of X linked hyper-IgM.
    Gilmour KC, Walshe D, Heath S, Monaghan G, Loughlin S, Lester T, Norbury G, Cale CM
    Mol Pathol 2003(5): 256-62 [PubMed abstract].

  • Three novel mutations reflect the variety of defects causing phenotypically diverse X-linked hyper-IgM syndrome.
    López-Granados E, Cambronero R, Ferreira A, Fontán G, García-Rodríguez MC
    Clin Exp Immunol 2003(1): 123-31 [PubMed abstract].

    2002

  • X-linked hyper-IgM syndrome associated with Cryptosporidium parvum and Cryptococcus neoformans infections: the first case with molecular diagnosis in Korea.
    Jo EK, Kim HS, Lee MY, Iseki M, Lee JH, Song CH, Park JK, Hwang TJ, Kook H
    J Korean Med Sci 2002(1): 116-20 [PubMed abstract].

    2001

  • CD40-CD40L independent Ig gene hypermutation suggests a second B cell diversification pathway in humans.
    Weller S, Faili A, Garcia C, Braun MC, Le Deist F F, de Saint Basile G G, Hermine O, Fischer A, Reynaud CA, Weill JC
    Proc Natl Acad Sci U S A 2001(3): 1166-70 [PubMed abstract].

    1998

  • Mutations of the CD40 ligand gene and its effect on CD40 ligand expression in patients with X-linked hyper IgM syndrome.
    Seyama K, Nonoyama S, Gangsaas I, Hollenbaugh D, Pabst HF, Aruffo A, Ochs HD
    Blood 1998(7): 2421-34 [PubMed abstract].

    1997

  • Mutations of the CD40 ligand gene in 13 Japanese patients with X-linked hyper-IgM syndrome.
    Nonoyama S, Shimadzu M, Toru H, Seyama K, Nunoi H, Neubauer M, Yata J, Och HD
    Hum Genet 1997(5): 624-7 [PubMed abstract].

    1996

  • Genomic structure and PCR-SSCP analysis of the human CD40 ligand gene: its application to prenatal screening for X-linked hyper-IgM syndrome.
    Seyama K, Kira S, Ishidoh K, Souma S, Miyakawa T, Kominami E
    Hum Genet 1996(2): 180-5 [PubMed abstract].

  • CD40 ligand deficiency presenting as unresponsive neutropenia.
    Andrews FJ, Katz F, Jones A, Smith S, Finn A
    Arch Dis Child 1996(5): 458-9 [PubMed abstract].

  • Mutation analysis in CD40 ligand deficiency leading to X-linked hypogammaglobulinemia with hyper IgM syndrome.
    Katz F, Hinshelwood S, Rutland P, Jones A, Kinnon C, Morgan G
    Hum Mutat 1996(3): 223-8 [PubMed abstract].

  • A single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome.
    Lin Q, Rohrer J, Allen RC, Larché M, Greene JM, Shigeoka AO, Gatti RA, Derauf DC, Belmont JW, Conley ME
    J Clin Invest 1996(1): 196-201 [PubMed abstract].

    1995

  • Signaling through CD40 rescues IgE but not IgG or IgA secretion in X-linked immunodeficiency with hyper-IgM.
    Saiki O, Tanaka T, Wada Y, Uda H, Inoue A, Katada Y, Izeki M, Iwata M, Nunoi H, Matsuda I
    J Clin Invest 1995(2): 510-4 [PubMed abstract].

  • Brief report: correction of X-linked hyper-IgM syndrome by allogeneic bone marrow transplantation.
    Thomas C, de Saint Basile G, Le Deist F, Theophile D, Benkerrou M, Haddad E, Blanche S, Fischer A
    N Engl J Med 1995(7): 426-9 [PubMed abstract].

  • Identification of a CD40L gene mutation and genetic counselling in a family with immunodeficiency with hyperimmunoglobulinemia M.
    Kraakman ME, de Weers M, Español T, Schuurman RK, Hendriks RW
    Clin Genet 1995(1): 46-8 [PubMed abstract].

  • Characterization of nine novel mutations in the CD40 ligand gene in patients with X-linked hyper IgM syndrome of various ancestry.
    Macchi P, Villa A, Strina D, Sacco MG, Morali F, Brugnoni D, Giliani S, Mantuano E, Fasth A, Andersson B
    Am J Hum Genet 1995(4): 898-906 [PubMed abstract].

    1994

  • Defective expression of CD40 ligand on T cells causes "X-linked immunodeficiency with hyper-IgM (HIGM1)".
    Kroczek RA, Graf D, Brugnoni D, Giliani S, Korthüer U, Ugazio A, Senger G, Mages HW, Villa A, Notarangelo LD
    Immunol Rev 1994(): 39-59 [PubMed abstract].

  • The random inactivation of the X chromosome carrying the defective gene responsible for X-linked hyper IgM syndrome (X-HIM) in female carriers of HIGM1.
    Hollenbaugh D, Wu LH, Ochs HD, Nonoyama S, Grosmaire LS, Ledbetter JA, Noelle RJ, Hill H, Aruffo A
    J Clin Invest 1994(2): 616-22 [PubMed abstract].

  • Hyper-IgM immunodeficiency with disseminated cryptococcosis.
    Iseki M, Anzo M, Yamashita N, Matsuo N
    Acta Paediatr 1994(7): 780-2 [PubMed abstract].

    1993

  • The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome.
    Aruffo A, Farrington M, Hollenbaugh D, Li X, Milatovich A, Nonoyama S, Bajorath J, Grosmaire LS, Stenkamp R, Neubauer M
    Cell 1993(2): 291-300 [PubMed abstract].

  • Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM.
    Korthäuer U, Graf D, Mages HW, Brière F, Padayachee M, Malcolm S, Ugazio AG, Notarangelo LD, Levinsky RJ, Kroczek RA
    Nature 1993(6412): 539-41 [PubMed abstract].