| 1 | CD40LG, HIGM1
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| A novel mutation in the CD40 ligand gene in a Chinese boy with X-linked hyper-IgM syndrome.
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| Liu PN, Li H, Li Q, Yin ZW, Zhou CY, Jiang MY, Guo X.
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| Asian Pac J Allergy Immunol 32(3):270-4. doi: 10.12932/AP0365.32.3.2014.
2014
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| 2 | CD40LG, HIGM1
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| Osteopenia in X-linked hyper-IgM syndrome reveals a regulatory role for CD40 ligand in osteoclastogenesis.
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| Lopez-Granados E, Temmerman ST, Wu L, Reynolds JC, Follmann D, Liu S, Nelson DL, Rauch F, Jain A.
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| Proc Natl Acad Sci U S A 104(12):5056-61. Epub 2007 Mar 9. 2007
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| 3 | CD40LG, HIGM1
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| HIGM syndrome caused by insertion of an AluYb8 element in exon 1 of the CD40LG gene.
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| Apoil PA, Kuhlein E, Robert A, Rubie H, Blancher A.
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| Immunogenetics 59(1):17-23. Epub 2006 Dec 5.
2007
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| 4 | HIGM1, CD40LG
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| CD40 ligand expression deficiency in a female carrier of the X-linked hyper-IgM syndrome as a result of X chromosome lyonization.
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| de Saint Basile G, et al.
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| Eur J Immunol 29(1):367-73. 1999
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| 5 | CD40LG, HIGM1, CD40
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| An aggressive form of polyarticular arthritis in a man with CD154 mutation (X-linked hyper-IgM syndrome).
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| Webster EA, et al.
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| Arthritis Rheum 42(6):1291-6. 1999
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| 6 | CD40LG, HIGM1
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| Mutations of the CD40 ligand gene in 13 Japanese patients with X-linked hyper-IgM syndrome.
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| Nonoyama S, Shimadzu M, Toru H, Seyama K, Nunoi H, Neubauer M, Yata J, Och HD.
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| Hum Genet 99(5):624-7. 1997
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| 7 | CD40LG, HIGM1
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| A single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome.
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| Lin Q, et al.
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| J Clin Invest 97 : 196-201. 1996
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| 8 | CD40LG, HIGM1
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| Genomic structure and PCR-SSCP analysis of the human CD40 ligand gene : its application to prenatal screening for X-linked hyper-IgM syndrome.
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| Seyama K, et al.
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| Hum Genet 97 : 180-185. 1996
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| 9 | CD40LG, HIGM1
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| A novel splice-site mutation in the CD40L gene in a patient with X-linked hyper-IgM syndrome.
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| Dezso D, et al.
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| Hum Mutat 7 : 181. 1996
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| 10 | CD40LG, HIGM1
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| Mutation analysis in CD40 ligand deficiency leading to X-linked hypogammaglobulinemia with hyper IgM syndrome.
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| Katz F, et al.
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| Hum Mutat 8 : 223-228. 1996
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| 11 | HIGM1
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| Somatic mutations in human Ig variable genes correlate with a partially functional CD40-ligand in the X-linked hyper-IgM syndrome.
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| Razanajaona D, et al.
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| J Immunol 157 : 1492-1498. 1996
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| 12 | CD40LG, HIGM1
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| A point mutation in exon 2 of the CD40 ligand gene causes the simultaneous expression of two defective mRNA species in X-linked hyperimmunoglobulinemia M.
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| Ramesh N, et al.
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| Hum Mol Genet 4 : 759-761. 1995
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| 13 | HIGM1, CD40LG
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| Characterization of nine novel mutations in the CD40 ligand gene in patients with X-linked hyper IgM syndrome of various ancestry.
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| Macchi P, et al.
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| Am J Hum Genet 56 : 898-906. 1995
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| 14 | CD40LG, HIGM1
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| C to T mutation causing premature termination of CD40 ligand at amino acid 221 in a patient affected by hyper IgM syndrome.
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| Villa A, et al.
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| Hum Mutat 3 : 73-75. 1994
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| 15 | CD40LG, HIGM1
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| Organization of the human CD40L gene : implications for molecular defects in X chromosome-linked hyper-IgM syndrome and prenatal diagnosis.
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| Villa A, et al.
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| Proc Natl Acad Sci U S A 91 : 2110-2114. 1994
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| 16 | HIGM1, CD40LG
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| The random inactivation of the X chromosome carrying the defective gene responsible for X-linked hyper IgM syndrome in female carriers of HIGM1.
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| Hollenbaugh D, et al.
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| J Clin Invest 94 : 616-622. 1994
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| 17 | HIGM1, HIGM2
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| Hyper IgM syndrome associated with defective CD40-mediated B cell activation.
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| Conley ME, Larche M, Bonagura VR, Lawton AR 3rd, Buckley RH, Fu SM, Coustan-Smith E, Herrod HG, Campana D.
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| J Clin Invest 94(4):1404-9. 1994
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| 18 | HIGM1
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| Mapping of the X-linked form of hyper-IgM syndrome (HIGM1) to Xq26 by close linkage to HPRT.
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| Padayachee M, et al.
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| Genomics 14 : 551-553. 1992
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| 19 | HIGM1
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| Mapping of the X linked form of hyper IgM syndrome (HIGM1).
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| Padayachee M, et al.
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| J Med Genet 30 : 202-205. 1992
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| 20 | HIGM1, DXS42
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| X-linked immunodeficiency with hyperimmunoglobulinemia M appears to be linked to the DXS42 restriction fragment length polymorphism locus.
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| Mensink EJBM, et al.
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| Hum Genet 76 : 96-99. 1987
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| 21 | HIGM1
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| X-linked immunodeficiency with increased IgM : clinical, ethnic and immunologic heterogeneity.
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| Kyong W, et al.
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| Pediatr Res 12 : 1024-1026. 1978
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