PMC Links for OMIM (Select 308380) - PMC - NCBI

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Items: 8

Select item 39722861.

Human syndromes of immunodeficiency and dysregulation are characterized by distinct defects in T-cell receptor repertoire development

Xiaomin Yu, Jorge Almeida, Sam Darko, Mirjam van der Burg, Suk See DeRavin, Harry Malech, Andrew Gennery, Ivan Chinn, Mary Louise Markert, Daniel C. Douek, Joshua D. Milner

J Allergy Clin Immunol. Author manuscript; available in PMC 2015 Apr 1.

Published in final edited form as: J Allergy Clin Immunol. 2014 Apr; 133(4): 1109–1115.e14. Published online 2014 Jan 7. doi: 10.1016/j.jaci.2013.11.018

PMCID:: PMC3972286

Article PDF–2.3M

Select item 22650762.

Molecular and structural basis of cytokine receptor pleiotropy in the Interleukin-4/13 system

Sherry L. LaPorte, Z. Sean Juo, Jana Vaclavikova, Leremy A. Colf, Xiulan Qi, Nicola M. Heller, Achsah D. Keegan, K. Christopher Garcia

Cell. Author manuscript; available in PMC 2008 Jul 25.

Published in final edited form as: Cell. 2008 Jan 25; 132(2): 259–272. doi: 10.1016/j.cell.2007.12.030

PMCID:: PMC2265076

Article PDF–6.8M

Select item 18012773.

Two mutational hotspots in the interleukin-2 receptor gamma chain gene causing human X-linked severe combined immunodeficiency.

A E Pepper, R H Buckley, T N Small, J M Puck

Am J Hum Genet. 1995 Sep; 57(3): 564–571.

PMCID:: PMC1801277

Summary Page Browse PDF–1.4M

Select item 13779264.

Interleukin-2 signaling and inherited immunodeficiency.

N A Cacalano, J A Johnston

Am J Hum Genet. 1999 Aug; 65(2): 287–293. doi: 10.1086/302518

PMCID:: PMC1377926

Summary PDF–283K

Select item 5085165.

An interleukin-2 receptor gamma chain mutation with normal thymus morphology.

N Sharfe, M Shahar, C M Roifman

J Clin Invest. 1997 Dec 15; 100(12): 3036–3043. doi: 10.1172/JCI119858

PMCID:: PMC508516

Summary PDF–524K

Select item 4414546.

Missense mutation in exon 7 of the common gamma chain gene causes a moderate form of X-linked combined immunodeficiency.

F C Schmalstieg, W J Leonard, M Noguchi, M Berg, H E Rudloff, R M Denney, S K Dave, E G Brooks, A S Goldman

J Clin Invest. 1995 Mar; 95(3): 1169–1173. doi: 10.1172/JCI117765

PMCID:: PMC441454

Summary Page Browse PDF–1.2M

Select item 2955807.

Female germ line mosaicism as the origin of a unique IL-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency.

J M Puck, A E Pepper, P M Bédard, R Laframboise

J Clin Invest. 1995 Feb; 95(2): 895–899. doi: 10.1172/JCI117740

PMCID:: PMC295580

Summary Page Browse PDF–1.0M

Select item 473778.

Characterization of cDNAs encoding the murine interleukin 2 receptor (IL-2R) gamma chain: chromosomal mapping and tissue specificity of IL-2R gamma chain expression.

X Cao, C A Kozak, Y J Liu, M Noguchi, E O'Connell, W J Leonard

Proc Natl Acad Sci U S A. 1993 Sep 15; 90(18): 8464–8468. doi: 10.1073/pnas.90.18.8464

PMCID:: PMC47377

Summary Page Browse PDF–1.7M

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