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Clinical and laboratory features of seventy-eight UK patients with Good’s syndrome (thymoma and hypogammaglobulinaemia):Good’s syndrome in the UK

Autor: Zaman, M., Huissoon, A., Buckland, M., Patel, S., Alachkar, H., Edgar, J. D., Thomas, M., Arumugakani, G., Baxendale, H., Burns, S., Williams, A. P., Jolles, S., Herriot, R., Sargur, R. B., Arkwright, P. D.

Publikováno v: Zaman, M, Huissoon, A, Buckland, M, Patel, S, Alachkar, H, Edgar, J D, Thomas, M, Arumugakani, G, Baxendale, H, Burns, S, Williams, A P, Jolles, S, Herriot, R, Sargur, R B & Arkwright, P D 2018, ' Clinical and laboratory features of seventy-eight UK patients with Good’s syndrome (thymoma and hypogammaglobulinaemia) : Good’s syndrome in the UK ', Clin Exp Immunol . https://doi.org/10.1111/cei.13216

Good’s syndrome (thymoma and hypogammaglobulinaemia) is a rare secondary immunodeficiency disease, previously reported in the published literature as mainly individual cases or small case series. We use the national UK‐Primary Immune Deficiency (

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3818::3d479ed1bfd17b6406143c9645ab53c5
https://research.manchester.ac.uk/en/publications/0e8b7c46-bf3a-4b83-9944-98931dab6390

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Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study

Autor: Coulter, TI, Chandra, A, Bacon, CM, Babar, J, Curtis, J, Screaton, N, Goodlad, JR, Farmer, G, Steele, CL, Leahy, TR, Doffinger, R, Baxendale, H, Bernatoniene, J, Edgar, JD, Longhurst, HJ, Ehl, S, Speckmann, C, Grimbacher, B, Sediva, A, Milota, T, Faust, SN, Williams, AP, Hayman, G, Kucuk, ZY, Hague, R, French, P, Brooker, R, Forsyth, P, Herriot, R, Cancrini, C, Palma, P, Ariganello, P, Conlon, N, Feighery, C, Gavin, PJ, Jones, A, Imai, K, Ibrahim, MA, Markelj, G, Abinun, M, Rieux-Laucat, F, Latour, S, Pellier, I, Fischer, A, Touzot, F, Casanova, JL, Durandy, A, Burns, SO, Savic, S, Kumararatne, DS, Moshous, D, Kracker, S, Vanhaesebroeck, B, Okkenhaug, K, Picard, C, Nejentsev, S, Condliffe, AM, Cant, AJ

Publikováno v: The Journal of Allergy and Clinical Immunology

Background: Activated PI3-Kinase Delta Syndrome (APDS) is a recently described combined immunodeficiency resulting from gain-of-function mutations in PIK3CD, the gene encoding the catalytic subunit of phosphoinositide 3-kinase δ (PI3Kδ).\ud Objecti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::a5a4918b3be492ba1184de8dfc1df017