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Items: 1 to 20 of 144

1.

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 22;118(26):6824-35. doi: 10.1182/blood-2011-06-362533. Epub 2011 Oct 28.

2.

Patients with T⁺/low NK⁺ IL-2 receptor γ chain deficiency have differentially-impaired cytokine signaling resulting in severe combined immunodeficiency.

Fuchs S, Rensing-Ehl A, Erlacher M, Vraetz T, Hartjes L, Janda A, Rizzi M, Lorenz MR, Gilmour K, de Saint-Basile G, Roifman CM, Cheuk S, Gennery A, Thrasher AJ, Fuchs I, Schwarz K, Speckmann C, Ehl S.

Eur J Immunol. 2014 Oct;44(10):3129-40. doi: 10.1002/eji.201444689. Epub 2014 Aug 28.

3.

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. doi: 10.1016/j.cyto.2009.09.009. Epub 2009 Nov 3.

PMID:
19889552
4.

B-cell memory and primary immune deficiencies: interleukin-21 related defects.

Desjardins M, Mazer BD.

Curr Opin Allergy Clin Immunol. 2013 Dec;13(6):639-45. doi: 10.1097/ACI.0000000000000009. Review.

PMID:
24126614
5.

Hypomorphic Janus kinase 3 mutations result in a spectrum of immune defects, including partial maternal T-cell engraftment.

Cattaneo F, Recher M, Masneri S, Baxi SN, Fiorini C, Antonelli F, Wysocki CA, Calderon JG, Eibel H, Smith AR, Bonilla FA, Tsitsikov E, Giliani S, Notarangelo LD, Pai SY.

J Allergy Clin Immunol. 2013 Apr;131(4):1136-45. doi: 10.1016/j.jaci.2012.12.667. Epub 2013 Feb 4.

PMID:
23384681
6.

Human lymphoid development in the absence of common γ-chain receptor signaling.

Kohn LA, Seet CS, Scholes J, Codrea F, Chan R, Zaidi-Merchant S, Zhu Y, De Oliveira S, Kapoor N, Shah A, Abdel-Azim H, Kohn DB, Crooks GM.

J Immunol. 2014 Jun 1;192(11):5050-8. doi: 10.4049/jimmunol.1303496. Epub 2014 Apr 25.

7.
8.

Long-term outcome of hematopoietic stem cell transplantation for IL2RG/JAK3 SCID: a cohort report.

Abd Hamid IJ, Slatter MA, McKendrick F, Pearce MS, Gennery AR.

Blood. 2017 Apr 13;129(15):2198-2201. doi: 10.1182/blood-2016-11-748616. Epub 2017 Feb 16.

PMID:
28209722
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.

PMID:
11260071
10.

A novel common gamma chain mutation in a Chinese family with X-linked severe combined immunodeficiency (X-SCID; T(-)NK(-)B(+)).

Tan W, Yu S, Lei J, Wu B, Wu C.

Immunogenetics. 2015 Nov;67(11-12):629-39. doi: 10.1007/s00251-015-0871-0. Epub 2015 Sep 26.

PMID:
26409833
11.

IL-21 signalling via STAT3 primes human naive B cells to respond to IL-2 to enhance their differentiation into plasmablasts.

Berglund LJ, Avery DT, Ma CS, Moens L, Deenick EK, Bustamante J, Boisson-Dupuis S, Wong M, Adelstein S, Arkwright PD, Bacchetta R, Bezrodnik L, Dadi H, Roifman CM, Fulcher DA, Ziegler JB, Smart JM, Kobayashi M, Picard C, Durandy A, Cook MC, Casanova JL, Uzel G, Tangye SG.

Blood. 2013 Dec 5;122(24):3940-50. doi: 10.1182/blood-2013-06-506865. Epub 2013 Oct 24.

12.

The cellular amount of the common gamma-chain influences spontaneous or induced cell proliferation.

Amorosi S, Russo I, Amodio G, Garbi C, Vitiello L, Palamaro L, Adriani M, Vigliano I, Pignata C.

J Immunol. 2009 Mar 1;182(5):3304-9. doi: 10.4049/jimmunol.0802400.

13.

Pretransplant mobilization with granulocyte colony-stimulating factor improves B-cell reconstitution by lentiviral vector gene therapy in SCID-X1 mice.

Huston MW, Riegman AR, Yadak R, van Helsdingen Y, de Boer H, van Til NP, Wagemaker G.

Hum Gene Ther. 2014 Oct;25(10):905-14. doi: 10.1089/hum.2014.101.

14.

Long-term immune reconstitution after anti-CD52-treated or anti-CD34-treated hematopoietic stem cell transplantation for severe T-lymphocyte immunodeficiency.

Slatter MA, Brigham K, Dickinson AM, Harvey HL, Barge D, Jackson A, Bown N, Flood TJ, Cant AJ, Abinun M, Gennery AR.

J Allergy Clin Immunol. 2008 Feb;121(2):361-7. Epub 2007 Dec 20.

PMID:
18086494
15.

Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency.

Puel A, Ziegler SF, Buckley RH, Leonard WJ.

Nat Genet. 1998 Dec;20(4):394-7.

PMID:
9843216
16.

Transplantation of X-linked severe combined immunodeficient dogs with CD34+ bone marrow cells.

Hartnett BJ, Yao D, Suter SE, Ellinwood NM, Henthorn PS, Moore PE, McSweeney PA, Nash RA, Brown JD, Weinberg KI, Felsburg PJ.

Biol Blood Marrow Transplant. 2002;8(4):188-97.

PMID:
12014808
17.

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 15;103(6):2009-18. Epub 2003 Nov 13.

18.

Clinical and immunologic consequences of a somatic reversion in a patient with X-linked severe combined immunodeficiency.

Speckmann C, Pannicke U, Wiech E, Schwarz K, Fisch P, Friedrich W, Niehues T, Gilmour K, Buiting K, Schlesier M, Eibel H, Rohr J, Superti-Furga A, Gross-Wieltsch U, Ehl S.

Blood. 2008 Nov 15;112(10):4090-7. doi: 10.1182/blood-2008-04-153361. Epub 2008 Aug 26.

19.

A novel deletion mutation in IL2RG gene results in X-linked severe combined immunodeficiency with an atypical phenotype.

Mou W, He J, Chen X, Zhang H, Ren X, Wu X, Ni X, Xu B, Gui J.

Immunogenetics. 2017 Jan;69(1):29-38. doi: 10.1007/s00251-016-0949-3. Epub 2016 Aug 26.

PMID:
27566612
20.

[Analysis of gammac-dependent cytokines-mediated immunoregulation].

Asao H.

Rinsho Byori. 2007 Jan;55(1):51-8. Review. Japanese.

PMID:
17319491

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