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Items: 1 to 20 of 29

1.
Hyper-IgM syndrome type 4 with a B lymphocyte–intrinsic selective deficiency in Ig class-switch recombination
Kohsuke Imai, Nadia Catalan, Alessandro Plebani, László Maródi, Özden Sanal, Satoru Kumaki, Vasantha Nagendran, Philip Wood, Catherine Glastre, Françoise Sarrot-Reynauld, Olivier Hermine, Monique Forveille, Patrick Revy, Alain Fischer, Anne Durandy
J Clin Invest. 2003 Jul 1; 112(1): 136–142. doi: 10.1172/JCI18161
PMCID:
PMC162294
AbstractArticlePDF–729K
2.
Non-functional immunoglobulin G transcripts in a case of hyper-immunoglobulin M syndrome similar to type 4
John M Darlow, Alex M Farrell, David I Stott
Immunology. 2004 Feb; 111(2): 212–222. doi: 10.1111/j.0019-2805.2003.01790.x
PMCID:
PMC1782402
AbstractArticlePDF–208K
3.
Hyper-immunoglobulin M syndrome caused by a mutation in the promotor for CD40L
Erna Van Hoeyveld, Ping-Xia Zhang, Kris De Boeck, Ramsay Fuleihan, Xavier Bossuyt
Immunology. 2007 Apr; 120(4): 497–501. doi: 10.1111/j.1365-2567.2006.02520.x
PMCID:
PMC2265910
AbstractArticlePDF–518K
4.
Clinical and molecular features of X-linked hyper IgM syndrome – An experience from North India
Amit Rawat, Babu Mathew, Vignesh Pandiarajan, Ankur Jindal, Madhubala Sharma, Deepti Suri, Anju Gupta, Shubham Goel, Adil Karim, Biman Saikia, Ranjana W. Minz, Kohsuke Imai, Shigeaki Nonoyama, Osamu Ohara, Silvia Clara Giliani, Luigi D. Notarangelo, Koon-Wing Chan, Yu-Lung Lau, Surjit Singh
Clin Immunol. Author manuscript; available in PMC 2019 Jul 30.
Published in final edited form as: Clin Immunol. 2018 Oct; 195: 59–66. Published online 2018 Jul 25. doi: 10.1016/j.clim.2018.07.013
PMCID:
PMC6666391
AbstractArticlePDF–980K
5.
Progressive choreodystonia in X‐linked hyper‐IgM immunodeficiency: a rare but recurrent presentation
Matej Škorvánek, Robert Jech, Juliane Winkelmann, Michael Zech
Ann Clin Transl Neurol. 2022 Apr; 9(4): 577–581. Published online 2022 Mar 10. doi: 10.1002/acn3.51538
PMCID:
PMC8994980
AbstractArticlePDF–213K
6.
A Novel AICDA Splice-Site Mutation in Two Siblings with HIGM2 Permits Somatic Hypermutation but Abrogates Mutational Targeting
Johannes Dirks, Gabriele Haase, Tineke Cantaert, Lea Frey, Moritz Klaas, Christian H. Rickert, Hermann Girschick, Eric Meffre, Henner Morbach
J Clin Immunol. 2022; 42(4): 771–782. Published online 2022 Mar 5. doi: 10.1007/s10875-022-01233-5
PMCID:
PMC9166864
AbstractArticlePDF–2.7M
7.
Novel antibody switching defects in human patients
John P. Manis, Frederick W. Alt
J Clin Invest. 2003 Jul 1; 112(1): 19–22. doi: 10.1172/JCI19091
PMCID:
PMC162297
AbstractArticlePDF–639K
8.
Molecular pathology of the X-linked hyper-immunoglobulin M syndrome: detection of wild-type transcripts in a patient with a complex splicing defect of the CD40 ligand.
R Ameratunga, J McKee, J French, R Prestidge, W Fanslow, J Marbrook
Clin Diagn Lab Immunol. 1996 Nov; 3(6): 722–726. doi: 10.1128/cdli.3.6.722-726.1996
PMCID:
PMC170437
SummaryPDF–257K
9.
Intrinsic defect in B cells of patients with hyper-immunoglobulin M syndrome.
Y B Porat, D Levy, J Levy, I Zan-Bar
Clin Diagn Lab Immunol. 1995 Jul; 2(4): 412–416. doi: 10.1128/cdli.2.4.412-416.1995
PMCID:
PMC170171
SummaryPDF–230K
10.
Hyper IgM syndrome associated with defective CD40-mediated B cell activation.
M E Conley, M Larché, V R Bonagura, A R Lawton, 3rd, R H Buckley, S M Fu, E Coustan-Smith, H G Herrod, D Campana
J Clin Invest. 1994 Oct; 94(4): 1404–1409. doi: 10.1172/JCI117476
PMCID:
PMC295267
SummaryPage BrowsePDF–1.2M
11.
A T cell controlled molecular pathway regulating the IgH locus: CD40-mediated activation of the IgH 3' enhancer.
P A Grant, T Andersson, M F Neurath, V Arulampalam, A Bauch, R Müller, M Reth, S Pettersson
EMBO J. 1996 Dec 2; 15(23): 6691–6700.
PMCID:
PMC452493
SummaryPage BrowsePDF–2.5M
12.
Absence of IgD-CD27(+) memory B cell population in X-linked hyper-IgM syndrome.
K Agematsu, H Nagumo, K Shinozaki, S Hokibara, K Yasui, K Terada, N Kawamura, T Toba, S Nonoyama, H D Ochs, A Komiyama
J Clin Invest. 1998 Aug 15; 102(4): 853–860. doi: 10.1172/JCI3409
PMCID:
PMC508949
SummaryPDF–294K
13.
Biased Immunoglobulin G (IgG) Subclass Production in a Case of Hyper-IgM Syndrome
G. R. McLean, K. K. Miller, J. W. Schrader, A. K. Junker
Clin Diagn Lab Immunol. 2004 Nov; 11(6): 1192–1193. doi: 10.1128/CDLI.11.6.1192-1193.2004
PMCID:
PMC524785
AbstractArticlePDF–52K
14.
Specific NEMO mutations impair CD40-mediated c-Rel activation and B cell terminal differentiation
Ashish Jain, Chi A. Ma, Eduardo Lopez-Granados, Gary Means, William Brady, Jordan S. Orange, Shuying Liu, Steven Holland, Jonathan M.J. Derry
J Clin Invest. 2004 Dec 1; 114(11): 1593–1602. doi: 10.1172/JCI21345
PMCID:
PMC529497
AbstractArticlePDF–868K
15.
Mapping of the X linked form of hyper IgM syndrome (HIGM1)
M Padayachee, R J Levinsky, C Kinnon, A Finn, C McKeown, C Feighery, L D Notarangelo, R W Hendriks, A P Read, S Malcolm
J Med Genet. 1993 Mar; 30(3): 202–205. doi: 10.1136/jmg.30.3.202
Correction in:
J Med Genet. 1993 Jun; 30(6): 528.
PMCID:
PMC1016299
SummaryPage BrowsePDF–629K
16.
Epstein-Barr Virus Can Establish Infection in the Absence of a Classical Memory B-Cell Population
Margaret Conacher, Robin Callard, Karen McAulay, Helen Chapel, David Webster, Dinakantha Kumararatne, Anita Chandra, Gavin Spickett, Paul A. Hopwood, Dorothy H. Crawford
J Virol. 2005 Sep; 79(17): 11128–11134. doi: 10.1128/JVI.79.17.11128-11134.2005
PMCID:
PMC1193576
AbstractArticlePDF–223K
17.
Absence of CD40–CD40 ligand interactions in X-linked hyper-IgM syndrome does not affect differentiation of T helper cell subsets
H Uronen, R E Callard
Clin Exp Immunol. 2000 Aug; 121(2): 346–352. doi: 10.1046/j.1365-2249.2000.01307.x
PMCID:
PMC1905692
AbstractArticlePDF–146K
18.
Characterization of Nine Novel Mutations in the CD40 Ligand Gene in Patients with X-Linked Hyper IgM Syndrome of Various Ancestry
Paolo Macchi, Anna Villa, Dario Strina, Maria Grazia Sacco, Federica Morali, Duilio Brugnoni, Silvia Giliani, Elide Mantuano, Anders Fasth, Bengt Andersson, Ben J. M. Zegers, Giovanni Cavagni, Igor Reznick, Jacov Levy, Israel Zan-Bar, Yael Porat, Paolo Airò, Alessandro Plebani, Paolo Vezzoni, Luigi D. Notarangelo
Am J Hum Genet. 1995 Apr; 56(4): 898–906.
PMCID:
PMC1801196
SummaryPage BrowsePDF–1.5M
19.
A boy with X-linked hyper-IgM syndrome and natural killer cell deficiency
B ØSTENSTAD, S GILIANI, O J MELLBYE, B R NILSEN, T ABRAHAMSEN
Clin Exp Immunol. 1997 Feb; 107(2): 230–234. doi: 10.1111/j.1365-2249.1997.284-ce1174.x
PMCID:
PMC1904570
SummaryPDF–374K
20.
A Novel Heterozygous Variant in AICDA Impairs Ig Class Switching and Somatic Hypermutation in Human B Cells and is Associated with Autosomal Dominant HIGM2 Syndrome
Erika Della Mina, Katherine J. L. Jackson, Alexander J. I. Crawford, Megan L. Faulks, Karrnan Pathmanandavel, Nicolino Acquarola, Michael O’Sullivan, Tessa Kerre, Leslie Naesens, Karlien Claes, Christopher C. Goodnow, Filomeen Haerynck, Sven Kracker, Isabelle Meyts, Lloyd J. D’Orsogna, Cindy S. Ma, Stuart G. Tangye
J Clin Immunol. 2024; 44(3): 66. Published online 2024 Feb 16. doi: 10.1007/s10875-024-01665-1
PMCID:
PMC10873450
AbstractArticlePDF–2.0M

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