152 related articles for article (PubMed ID: 30032486)
1. JAK3 mutations in Italian patients affected by SCID: New molecular aspects of a long-known gene.
Di Matteo G; Chiriaco M; Scarselli A; Cifaldi C; Livadiotti S; Di Cesare S; Ferradini V; Aiuti A; Rossi P; Finocchi A; Cancrini C
Mol Genet Genomic Med; 2018 Sep; 6(5):713-721. PubMed ID: 30032486
[TBL] [Abstract][Full Text] [Related]
2. Novel compound heterozygous mutations in a Japanese girl with Janus kinase 3 deficiency.
Sato T; Okano T; Tanaka-Kubota M; Kimura S; Miyamoto S; Ono S; Yamashita M; Mitsuiki N; Takagi M; Imai K; Kajiwara M; Ebato T; Ogata S; Oda H; Ohara O; Kanegane H; Morio T
Pediatr Int; 2016 Oct; 58(10):1076-1080. PubMed ID: 27593409
[TBL] [Abstract][Full Text] [Related]
3. A case of aberrant CD8 T cell-restricted IL-7 signaling with a Janus kinase 3 defect-associated atypical severe combined immunodeficiency.
Khanolkar A; Wilks JD; Liu G; Simpson BM; Caparelli EA; Kirschmann DA; Bergerson J; Fuleihan RL
Immunol Res; 2020 Feb; 68(1):13-27. PubMed ID: 32215810
[TBL] [Abstract][Full Text] [Related]
4. Whole-exome sequencing of T
El Hawary R; Meshaal S; Mauracher AA; Opitz L; Abd Elaziz D; Lotfy S; Eldash A; Boutros J; Galal N; Pachlopnik Schmid J; Elmarsafy A
Clin Exp Immunol; 2021 Mar; 203(3):448-457. PubMed ID: 33040328
[TBL] [Abstract][Full Text] [Related]
5. Atypical immune phenotype in severe combined immunodeficiency patients with novel mutations in IL2RG and JAK3.
Goldberg L; Simon AJ; Lev A; Barel O; Stauber T; Kunik V; Rechavi G; Somech R
Genes Immun; 2020 Nov; 21(5):326-334. PubMed ID: 32921793
[TBL] [Abstract][Full Text] [Related]
6. Unexpected and variable phenotypes in a family with JAK3 deficiency.
Frucht DM; Gadina M; Jagadeesh GJ; Aksentijevich I; Takada K; Bleesing JJ; Nelson J; Muul LM; Perham G; Morgan G; Gerritsen EJ; Schumacher RF; Mella P; Veys PA; Fleisher TA; Kaminski ER; Notarangelo LD; O'Shea JJ; Candotti F
Genes Immun; 2001 Dec; 2(8):422-32. PubMed ID: 11781709
[TBL] [Abstract][Full Text] [Related]
7. Impaired IL-7 signaling may explain a case of atypical JAK3-SCID.
Li J; Nara H; Rahman M; Juliana FM; Araki A; Asao H
Cytokine; 2010 Feb; 49(2):221-8. PubMed ID: 19889552
[TBL] [Abstract][Full Text] [Related]
8. A novel mutation in the JH4 domain of JAK3 causing severe combined immunodeficiency complicated by vertebral osteomyelitis.
Qamar F; Junejo S; Qureshi S; Seleman M; Bainter W; Massaad M; Chou J; Geha RS
Clin Immunol; 2017 Oct; 183():198-200. PubMed ID: 28917720
[TBL] [Abstract][Full Text] [Related]
9. Rapid protein-based assays for the diagnosis of T-B+ severe combined immunodeficiency.
Gilmour KC; Cranston T; Loughlin S; Gwyther J; Lester T; Espanol T; Hernandez M; Savoldi G; Davies EG; Abinun M; Kinnon C; Jones A; Gaspar HB
Br J Haematol; 2001 Mar; 112(3):671-6. PubMed ID: 11260071
[TBL] [Abstract][Full Text] [Related]
10. Structural and functional basis for JAK3-deficient severe combined immunodeficiency.
Candotti F; Oakes SA; Johnston JA; Giliani S; Schumacher RF; Mella P; Fiorini M; Ugazio AG; Badolato R; Notarangelo LD; Bozzi F; Macchi P; Strina D; Vezzoni P; Blaese RM; O'Shea JJ; Villa A
Blood; 1997 Nov; 90(10):3996-4003. PubMed ID: 9354668
[TBL] [Abstract][Full Text] [Related]
11. Deep intronic mis-splicing mutation in JAK3 gene underlies T-B+NK- severe combined immunodeficiency phenotype.
Stepensky P; Keller B; Shamriz O; NaserEddin A; Rumman N; Weintraub M; Warnatz K; Elpeleg O; Barak Y
Clin Immunol; 2016 Feb; 163():91-5. PubMed ID: 26769277
[TBL] [Abstract][Full Text] [Related]
12. Eleven novel JAK3 mutations in patients with severe combined immunodeficiency-including the first patients with mutations in the kinase domain.
Mella P; Schumacher RF; Cranston T; de Saint Basile G; Savoldi G; Notarangelo LD
Hum Mutat; 2001 Oct; 18(4):355-6. PubMed ID: 11668621
[TBL] [Abstract][Full Text] [Related]
13. IL-21 is the primary common γ chain-binding cytokine required for human B-cell differentiation in vivo.
Recher M; Berglund LJ; Avery DT; Cowan MJ; Gennery AR; Smart J; Peake J; Wong M; Pai SY; Baxi S; Walter JE; Palendira U; Tangye GA; Rice M; Brothers S; Al-Herz W; Oettgen H; Eibel H; Puck JM; Cattaneo F; Ziegler JB; Giliani S; Tangye SG; Notarangelo LD
Blood; 2011 Dec; 118(26):6824-35. PubMed ID: 22039266
[TBL] [Abstract][Full Text] [Related]
14. Janus kinase 3 (JAK3) deficiency: clinical, immunologic, and molecular analyses of 10 patients and outcomes of stem cell transplantation.
Roberts JL; Lengi A; Brown SM; Chen M; Zhou YJ; O'Shea JJ; Buckley RH
Blood; 2004 Mar; 103(6):2009-18. PubMed ID: 14615376
[TBL] [Abstract][Full Text] [Related]
15. Zebrafish Model of Severe Combined Immunodeficiency (SCID) Due to JAK3 Mutation.
Basheer F; Lee E; Liongue C; Ward AC
Biomolecules; 2022 Oct; 12(10):. PubMed ID: 36291730
[TBL] [Abstract][Full Text] [Related]
16. Novel IL2RG Mutation Causes Leaky TLOWB+NK+ SCID With Nodular Regenerative Hyperplasia and Normal IL-15 STAT5 Phosphorylation.
Neves JF; Martins C; Cordeiro AI; Neves C; Plagnol V; Curtis J; Fabre M; Bibi S; Borrego LM; Moshous D; Nejentsev S; Gilmour K
J Pediatr Hematol Oncol; 2019 May; 41(4):328-333. PubMed ID: 29939941
[TBL] [Abstract][Full Text] [Related]
17. Mutational landscape of severe combined immunodeficiency patients from Turkey.
Firtina S; Yin Ng Y; Hatirnaz Ng O; Kiykim A; Aydiner E; Nepesov S; Camcioglu Y; Sayar EH; Reisli I; Torun SH; Cogurlu T; Uygun D; Simsek IE; Kaya A; Cipe F; Cagdas D; Yucel E; Cekic S; Uygun V; Baris S; Ozen A; Ozbek U; Sayitoglu M
Int J Immunogenet; 2020 Dec; 47(6):529-538. PubMed ID: 32445296
[TBL] [Abstract][Full Text] [Related]
18. Monocyte function in a severe combined immunodeficient patient with a donor splice site mutation in the Jak3 gene.
Villa A; Sironi M; Macchi P; Matteucci C; Notarangelo LD; Vezzoni P; Mantovani A
Blood; 1996 Aug; 88(3):817-23. PubMed ID: 8704236
[TBL] [Abstract][Full Text] [Related]
19. Combined immunodeficiency evolving into predominant CD4+ lymphopenia caused by somatic chimerism in JAK3.
Ban SA; Salzer E; Eibl MM; Linder A; Geier CB; Santos-Valente E; Garncarz W; Lion T; Ott R; Seelbach C; Boztug K; Wolf HM
J Clin Immunol; 2014 Nov; 34(8):941-53. PubMed ID: 25205547
[TBL] [Abstract][Full Text] [Related]
20. Modeling Human Severe Combined Immunodeficiency and Correction by CRISPR/Cas9-Enhanced Gene Targeting.
Chang CW; Lai YS; Westin E; Khodadadi-Jamayran A; Pawlik KM; Lamb LS; Goldman FD; Townes TM
Cell Rep; 2015 Sep; 12(10):1668-77. PubMed ID: 26321643
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
