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Items: 1 to 20 of 231

1.

[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
2.

[Two children with severe recurrent infections and the X-linked hyper-IgM syndrome].

Groeneweg M, Hartwig NG, Poerink-Stockschl├Ąder AB, Schweizer JJ, Bijleveld CM, Bredius RG.

Ned Tijdschr Geneeskd. 2003 May 24;147(21):1024-8. Dutch.

PMID:
12811975
3.

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.

4.
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.

6.

CD40 ligand expression deficiency in a female carrier of the X-linked hyper-IgM syndrome as a result of X chromosome lyonization.

de Saint Basile G, Tabone MD, Durandy A, Phan F, Fischer A, Le Deist F.

Eur J Immunol. 1999 Jan;29(1):367-73.

7.

Classification of mutations in the human CD40 ligand, gp39, that are associated with X-linked hyper IgM syndrome.

Bajorath J, Seyama K, Nonoyama S, Ochs HD, Aruffo A.

Protein Sci. 1996 Mar;5(3):531-4.

8.

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.

9.

Development of a rapid whole blood flow cytometry procedure for the diagnosis of X-linked hyper-IgM syndrome patients and carriers.

O'Gorman MR, Zaas D, Paniagua M, Corrochano V, Scholl PR, Pachman LM.

Clin Immunol Immunopathol. 1997 Nov;85(2):172-81.

PMID:
9344700
10.

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 Feb;69(2):169-73. doi: 10.1111/j.1365-3083.2008.02198.x.

11.

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.

12.

Hyper IgM syndrome: the other side of the coin.

Fuleihan RL.

Curr Opin Pediatr. 2001 Dec;13(6):528-32. Review.

PMID:
11753101
13.
14.

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 May;99(5):624-7.

PMID:
9150729
15.

Hyper-IgM immunodeficiency with disseminated cryptococcosis.

Iseki M, Anzo M, Yamashita N, Matsuo N.

Acta Paediatr. 1994 Jul;83(7):780-2.

PMID:
7949815
16.

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
17.

A transcriptional defect underlies B lymphocyte dysfunction in a patient diagnosed with non-X-linked hyper-IgM syndrome.

Bhushan A, Barnhart B, Shone S, Song C, Covey LR.

J Immunol. 2000 Mar 15;164(6):2871-80.

18.

The X-linked hyperimmunoglobulin M syndrome.

Fuleihan RL.

Semin Hematol. 1998 Oct;35(4):321-31. Review.

PMID:
9801261
19.

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 Oct;56(5):256-62.

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