191 related articles for article (PubMed ID: 12823286)
1. Three novel mutations reflect the variety of defects causing phenotypically diverse X-linked hyper-IgM syndrome.
López-Granados E; Cambronero R; Ferreira A; Fontán G; García-Rodríguez MC
Clin Exp Immunol; 2003 Jul; 133(1):123-31. PubMed ID: 12823286
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 19170966
[TBL] [Abstract][Full Text] [Related]
3. CD40 ligand mutations in x-linked immunodeficiency with hyper-IgM.
DiSanto JP; Bonnefoy JY; Gauchat JF; Fischer A; de Saint Basile G
Nature; 1993 Feb; 361(6412):541-3. PubMed ID: 8094231
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 9150729
[TBL] [Abstract][Full Text] [Related]
5. Organization of the human CD40L gene: implications for molecular defects in X chromosome-linked hyper-IgM syndrome and prenatal diagnosis.
Villa A; Notarangelo LD; Di Santo JP; Macchi PP; Strina D; Frattini A; Lucchini F; Patrosso CM; Giliani S; Mantuano E
Proc Natl Acad Sci U S A; 1994 Mar; 91(6):2110-4. PubMed ID: 7907793
[TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 17244160
[TBL] [Abstract][Full Text] [Related]
7. X-linked hyper IgM (HIGM1) in an African kindred: the first report from South Africa.
Pienaar S; Eley BS; Hughes J; Henderson HE
BMC Pediatr; 2003 Nov; 3():12. PubMed ID: 14641931
[TBL] [Abstract][Full Text] [Related]
8. Defective expression of CD40 ligand on T cells causes "X-linked immunodeficiency with hyper-IgM (HIGM1)".
Kroczek RA; Graf D; Brugnoni D; Giliani S; Korthüer U; Ugazio A; Senger G; Mages HW; Villa A; Notarangelo LD
Immunol Rev; 1994 Apr; 138():39-59. PubMed ID: 7915248
[TBL] [Abstract][Full Text] [Related]
9. X-linked hyper-immunoglobulin M syndrome harboring a novel CD40-ligand gene mutation: a case report.
Ramachandran R; Krishnan Y; Singh P; Kumar A; Mohanty A
Immunogenetics; 2023 Apr; 75(2):191-194. PubMed ID: 36478253
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 15631205
[TBL] [Abstract][Full Text] [Related]
11. Mutational screening of the CD40 ligand (CD40L) gene in patients with X linked hyper-IgM syndrome (XHIM) and determination of carrier status in female relatives.
Prasad ML; Velickovic M; Weston SA; Benson EM
J Clin Pathol; 2005 Jan; 58(1):90-2. PubMed ID: 15623492
[TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 20591076
[TBL] [Abstract][Full Text] [Related]
13. A single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome.
Lin Q; Rohrer J; Allen RC; Larché M; Greene JM; Shigeoka AO; Gatti RA; Derauf DC; Belmont JW; Conley ME
J Clin Invest; 1996 Jan; 97(1):196-201. PubMed ID: 8550833
[TBL] [Abstract][Full Text] [Related]
14. Coexpression of normal and mutated CD40 ligand with deletion of a putative RNA lariat branchpoint sequence in X-linked hyper-IgM syndrome.
Zhu X; Chung I; O'Gorman MR; Scholl PR
Clin Immunol; 2001 Jun; 99(3):334-9. PubMed ID: 11358428
[TBL] [Abstract][Full Text] [Related]
15. 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. PubMed ID: 15997875
[TBL] [Abstract][Full Text] [Related]
16. 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; 92(7):2421-34. PubMed ID: 9746782
[TBL] [Abstract][Full Text] [Related]
17. Trans-splicing repair of CD40 ligand deficiency results in naturally regulated correction of a mouse model of hyper-IgM X-linked immunodeficiency.
Tahara M; Pergolizzi RG; Kobayashi H; Krause A; Luettich K; Lesser ML; Crystal RG
Nat Med; 2004 Aug; 10(8):835-41. PubMed ID: 15273748
[TBL] [Abstract][Full Text] [Related]
18. 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. PubMed ID: 12952351
[TBL] [Abstract][Full Text] [Related]
19. 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; 168(3):1473-8. PubMed ID: 11801691
[TBL] [Abstract][Full Text] [Related]
20. 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; 157(4):1492-8. PubMed ID: 8759730
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]