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Metabolomics,Unknown,Transcriptomics,Genomics,Proteomics

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Expression data from human peripheral blood lymphocytes stimulated with anti-CD3 and anti-CD28 antibodies.

ABSTRACT: Peripheral blood lymphocytes were separated in the Ficoll gradient and subjected for stimulation with anti-CD3 and anti-CD28 antiobodies upon time (6h, 12h and 18h). Next, total RNA was isolated and trenscriptional analysis of stimulated cells was performed. 11 total samples were analysed. Analysis was performed using samples from two healthy donors and one sample from patient. Unstimulated samples were used as a controls.

ORGANISM(S): Homo sapiens

SUBMITTER: Jacek Puchałka

PROVIDER: E-GEOD-29624 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome.

Kotlarz Daniel D Ziętara Natalia N Uzel Gulbu G Weidemann Thomas T Braun Christian J CJ Diestelhorst Jana J Krawitz Peter M PM Robinson Peter N PN Hecht Jochen J Puchałka Jacek J Gertz E Michael EM Schäffer Alejandro A AA Lawrence Monica G MG Kardava Lela L Pfeifer Dietmar D Baumann Ulrich U Pfister Eva-Doreen ED Hanson Eric P EP Schambach Axel A Jacobs Roland R Kreipe Hans H Moir Susan S Milner Joshua D JD Schwille Petra P Mundlos Stefan S Klein Christoph C

The Journal of experimental medicine 20130225 3

Primary immunodeficiencies (PIDs) represent exquisite models for studying mechanisms of human host defense. In this study, we report on two unrelated kindreds, with two patients each, who had cryptosporidial infections associated with chronic cholangitis and liver disease. Using exome and candidate gene sequencing, we identified two distinct homozygous loss-of-function mutations in the interleukin-21 receptor gene (IL21R; c.G602T, p.Arg201Leu and c.240_245delCTGCCA, p.C81_H82del). The IL-21R(Arg ...[more]

PMID: 23440042

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