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Metabolomics,Unknown,Transcriptomics,Genomics,Proteomics

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Single Cell RNAseq from IL6R deficient patient and healthy parent

ABSTRACT: To determine the phenotypic differences in blood cells that are regulated by the IL-6R

INSTRUMENT(S): Illumina HiSeq 4000

ORGANISM(S): Homo sapiens

SUBMITTER: James Thaventhiran

PROVIDER: E-MTAB-8034 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses.

Spencer Sarah S Köstel Bal Sevgi S Egner William W Lango Allen Hana H Raza Syed I SI Ma Chi A CA Gürel Meltem M Zhang Yuan Y Sun Guangping G Sabroe Ruth A RA Greene Daniel D Rae William W Shahin Tala T Kania Katarzyna K Ardy Rico Chandra RC Thian Marini M Staples Emily E Pecchia-Bekkum Annika A Worrall William P M WPM Stephens Jonathan J Brown Matthew M Tuna Salih S York Melanie M Shackley Fiona F Kerrin Diarmuid D Sargur Ravishankar R Condliffe Alison A Tipu Hamid Nawaz HN Kuehn Hye Sun HS Rosenzweig Sergio D SD Turro Ernest E Tavaré Simon S Thrasher Adrian J AJ Jodrell Duncan Ian DI Smith Kenneth G C KGC Boztug Kaan K Milner Joshua D JD Thaventhiran James E D JED

The Journal of experimental medicine 20190624 9

IL-6 excess is central to the pathogenesis of multiple inflammatory conditions and is targeted in clinical practice by immunotherapy that blocks the IL-6 receptor encoded by <i>IL6R</i> We describe two patients with homozygous mutations in <i>IL6R</i> who presented with recurrent infections, abnormal acute-phase responses, elevated IgE, eczema, and eosinophilia. This study identifies a novel primary immunodeficiency, clarifying the contribution of IL-6 to the phenotype of patients with mutations ...[more]

PMID: 31235509

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