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Items: 1 to 20 of 97

1.

X-linked hyper IgM syndrome: a novel sequence variant associated with an atypical mild phenotype.

Buchbinder D, Park S, Nugent D.

J Pediatr Hematol Oncol. 2012 Jul;34(5):e212-4. doi: 10.1097/MPH.0b013e318241fa1b.

PMID:
22322937
2.

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
3.

X-linked hyper-IgM syndrome with CD40LG mutation: two case reports and literature review in Taiwanese patients.

Tsai HY, Yu HH, Chien YH, Chu KH, Lau YL, Lee JH, Wang LC, Chiang BL, Yang YH.

J Microbiol Immunol Infect. 2015 Feb;48(1):113-8. doi: 10.1016/j.jmii.2012.07.004. Epub 2012 Sep 24.

4.

Clinical and genetic analysis of patients with X-linked hyper-IgM syndrome.

Vargas-Hernández A, Berrón-Ruiz L, Staines-Boone T, Zarate-Hernández M, Córdova-Calderón WO, Espinosa-Rosales FJ, Santos-Argumedo L.

Clin Genet. 2013 Jun;83(6):585-7. doi: 10.1111/j.1399-0004.2012.01953.x. Epub 2012 Sep 10. No abstract available.

PMID:
22963373
5.

Severe congenital neutropenia or hyper-IgM syndrome? A novel mutation of CD40 ligand in a patient with severe neutropenia.

Rezaei N, Aghamohammadi A, Ramyar A, Pan-Hammarstrom Q, Hammarstrom L.

Int Arch Allergy Immunol. 2008;147(3):255-9. doi: 10.1159/000142050. Epub 2008 Jul 2.

PMID:
18594157
6.

A novel mutation in the CD40 ligand gene in a Chinese boy with X-linked hyper-IgM syndrome.

Liu PN, Li H, Li Q, Yin ZW, Zhou CY, Jiang MY, Guo X.

Asian Pac J Allergy Immunol. 2014 Sep;32(3):270-4. doi: 10.12932/AP0365.32.3.2014.

7.

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.

8.

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.

9.

Clinical features and genetic analysis of 20 Chinese patients with X-linked hyper-IgM syndrome.

Wang LL, Zhou W, Zhao W, Tian ZQ, Wang WF, Wang XF, Chen TX.

J Immunol Res. 2014;2014:683160. doi: 10.1155/2014/683160. Epub 2014 Aug 20.

10.

Hyper immunoglobulin M syndrome in a 15-year-old boy caused by a Gly219Arg missense mutation.

Katta A, Hong J, Knutsen AP.

Ann Allergy Asthma Immunol. 2013 May;110(5):391-3. doi: 10.1016/j.anai.2013.02.011. Epub 2013 Mar 15. No abstract available.

PMID:
23622016
11.

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
12.

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
13.

ARDS as presenting symptom in an infant with CD40L deficiency (Hyper-IgM syndrome Type 1).

Fremerey C, Wiebe B, Feyen O, Lenski C, Pohlmann U, Ehlen M, Schofer O, Meindl A, Niehues T, Bartmann P.

Klin Padiatr. 2009 Sep;221(5):302-4. doi: 10.1055/s-0029-1192041. Epub 2009 Aug 25.

PMID:
19707993
14.

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.

15.

Successful haploidentical PBSCT with subsequent T-cell addbacks in a boy with HyperIgM syndrome presenting as severe congenital neutropenia.

Jasinska A, Kalwak K, Trelinska J, Borowiec M, Piatosa B, Zeman K, Mlynarski W.

Pediatr Transplant. 2013 Feb;17(1):E37-40. doi: 10.1111/j.1399-3046.2012.01786.x. Epub 2012 Aug 29.

PMID:
22928961
16.

Fevers and mouth ulcers.

Teo J, Codarini M.

J Paediatr Child Health. 2001 Oct;37(5):507-9.

PMID:
11885719
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.

18.

Analysis of somatic hypermutation in X-linked hyper-IgM syndrome shows specific deficiencies in mutational targeting.

Longo NS, Lugar PL, Yavuz S, Zhang W, Krijger PH, Russ DE, Jima DD, Dave SS, Grammer AC, Lipsky PE.

Blood. 2009 Apr 16;113(16):3706-15. doi: 10.1182/blood-2008-10-183632. Epub 2008 Nov 20.

19.

A novel CD40LG deletion causes the hyper-IgM syndrome with normal CD40L expression in a 6-month-old child.

López-Herrera G, Maravillas-Montero JL, Vargas-Hernández A, Berrón-Ruíz L, Ramírez-Sánchez E, Yamazaki-Nakashimada MA, Espinosa-Rosales FJ, Santos-Argumedo L.

Immunol Res. 2015 May;62(1):89-94. doi: 10.1007/s12026-015-8638-0.

PMID:
25752457
20.

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

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