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Results: 1 to 20 of 125

1.

The polymorphism p.G219R of CD40L does not cause immunological alterations in vivo: conclusions from a X-linked hyper IgM syndrome kindred.

Martinez-Martinez L, Gonzalez-Santesteban C, Badell I, de la Calle-Martin O.

Mol Immunol. 2012 Oct;52(3-4):237-41. doi: 10.1016/j.molimm.2012.06.002. Epub 2012 Jun 29.

PMID:
22750225
[PubMed - indexed for MEDLINE]
2.

Clinical and molecular characterization of X-linked hyper-IgM syndrome patients in China.

An Y, Xiao J, Jiang L, Yang X, Yu J, Zhao X.

Scand J Immunol. 2010 Jul;72(1):50-6. doi: 10.1111/j.1365-3083.2010.02406.x.

PMID:
20591076
[PubMed - indexed for MEDLINE]
3.

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 Mar;23(1):53-9.

PMID:
15997875
[PubMed - indexed for MEDLINE]
Free Article
4.

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 Apr;120(4):497-501. Epub 2007 Jan 17.

PMID:
17244160
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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 Oct 1;92(7):2421-34.

PMID:
9746782
[PubMed - indexed for MEDLINE]
Free Article
6.

Pitfalls of "hyper"-IgM syndrome: a new CD40 ligand mutation in the presence of low IgM levels. A case report and a critical review of the literature.

Heinold A, Hanebeck B, Daniel V, Heyder J, Tran TH, Döhler B, Greil J, Müller FM.

Infection. 2010 Dec;38(6):491-6. doi: 10.1007/s15010-010-0061-9. Epub 2010 Oct 28. Review.

PMID:
20981468
[PubMed - indexed for MEDLINE]
7.

CD40 ligand mutants responsible for X-linked hyper-IgM syndrome associate with wild type CD40 ligand.

Seyama K, Osborne WR, Ochs HD.

J Biol Chem. 1999 Apr 16;274(16):11310-20.

PMID:
10196221
[PubMed - indexed for MEDLINE]
Free Article
8.

CD40 ligand-deficient T cells from X-linked hyper-IgM syndrome carriers have intrinsic priming capability.

Lobo FM, Scholl PR, Fuleihan RL.

J Immunol. 2002 Feb 1;168(3):1473-8.

PMID:
11801691
[PubMed - indexed for MEDLINE]
Free Article
9.

Dendritic cells from X-linked hyper-IgM patients present impaired responses to Candida albicans and Paracoccidioides brasiliensis.

Cabral-Marques O, Arslanian C, Ramos RN, Morato M, Schimke L, Soeiro Pereira PV, Jancar S, Ferreira JF, Weber CW, Kuntze G, Rosario-Filho NA, Costa Carvalho BT, Bergami-Santos PC, Hackett MJ, Ochs HD, Torgerson TR, Barbuto JA, Condino-Neto A.

J Allergy Clin Immunol. 2012 Mar;129(3):778-86. doi: 10.1016/j.jaci.2011.10.026. Epub 2011 Dec 10.

PMID:
22154528
[PubMed - indexed for MEDLINE]
10.

[Hyper-IgM syndrome in members of two unrelated Chilean families: molecular and mutation analysis].

Luttges PD, Retamal DF, Spencer MY, Carrión FA, Valenzuela VM, Navarro SV, De Cornejo ML.

Rev Med Chil. 2004 Oct;132(10):1179-88. Spanish.

PMID:
15631205
[PubMed - indexed for MEDLINE]
11.

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, et al.

J Clin Invest. 1995 Feb;95(2):510-4.

PMID:
7532185
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Expanding the clinical and genetic spectrum of human CD40L deficiency: the occurrence of paracoccidioidomycosis and other unusual infections in Brazilian patients.

Cabral-Marques O, Schimke LF, Pereira PV, Falcai A, de Oliveira JB, Hackett MJ, Errante PR, Weber CW, Ferreira JF, Kuntze G, Rosário-Filho NA, Ochs HD, Torgerson TR, Carvalho BT, Condino-Neto A.

J Clin Immunol. 2012 Apr;32(2):212-20. doi: 10.1007/s10875-011-9623-6. Epub 2011 Dec 23.

PMID:
22193914
[PubMed - indexed for MEDLINE]
13.

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;207(4):285-94.

PMID:
12952351
[PubMed - indexed for MEDLINE]
14.

X-linked hyper-immunoglobulin M syndrome: molecular genetic study and long-time follow-up of three generations of a Chinese family.

Lin SC, Shyur SD, Lee WI, Ma YC, Huang LH.

Int Arch Allergy Immunol. 2006;140(1):1-8. Epub 2006 Feb 23.

PMID:
16508335
[PubMed - indexed for MEDLINE]
15.

[From gene to disease; CD40 ligand deficiency as the cause of X-linked hyper-IgM-syndrome].

Groeneweg M, Lankester AC, Bredius RG.

Ned Tijdschr Geneeskd. 2003 May 24;147(21):1009-11. Review. Dutch.

PMID:
12811971
[PubMed - indexed for MEDLINE]
16.

Enteroviral meningoencephalitis as a complication of X-linked hyper IgM syndrome.

Cunningham CK, Bonville CA, Ochs HD, Seyama K, John PA, Rotbart HA, Weiner LB.

J Pediatr. 1999 May;134(5):584-8.

PMID:
10228294
[PubMed - indexed for MEDLINE]
17.

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]
18.

Somatic mutations in human Ig variable genes correlate with a partially functional CD40-ligand in the X-linked hyper-IgM syndrome.

Razanajaona D, van Kooten C, Lebecque S, Bridon JM, Ho S, Smith S, Callard R, Banchereau J, Brière F.

J Immunol. 1996 Aug 15;157(4):1492-8.

PMID:
8759730
[PubMed - indexed for MEDLINE]
19.

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 Jan;59(1):17-23. Epub 2006 Dec 5.

PMID:
17146684
[PubMed - indexed for MEDLINE]
20.

Female hyper IgM syndrome type 1 with a chromosomal translocation disrupting CD40LG.

Imai K, Shimadzu M, Kubota T, Morio T, Matsunaga T, Park YD, Yoshioka A, Nonoyama S.

Biochim Biophys Acta. 2006 Mar;1762(3):335-40. Epub 2005 Oct 28.

PMID:
16311023
[PubMed - indexed for MEDLINE]
Free Article

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