UK-PIN members are very active in all aspects of research into primary immunodeficiency diseases from basic science, discovering of new diseases and new therapies. A number of clinical units are closely linked with University research institutes. Members also pride themselves through their international collaborations across the globe. The UKPID registry is increasingly becoming a useful research for tapping into unique patient groups. The 100,000 genome project is providing the impetus for setting up of Genomics England Clinical Interpretation Partnerships (GeCIP), and UK-PIN are involved in coordinating the recruitment and analysis of PID patients. To get involved in research or the 100,000 genome project in your region, please contact your academic representative and check the GeCIP page for updates.

News flashes: National and international research initiatives

To post national or international news please contact: [email protected]

Recent publications involving UK-PIN members

The United Kingdom Primary Immune Deficiency (UKPID) registry 2012 to 2017. Shillitoe B, Bangs C, Gennery AR, Longhurst HJ, Slatter M, Edgar DM, Thomas M, Worth A, Huissoon A, Arkwright PD, Jolles S, Bourne H, Alachkar H, Savic S, Kumararatne DS, Patel S, Baxendale H, Noorani S, Yong PF, Waruiru C, Pavaladurai V, Kelleher P, Herriot R, Bernatonienne J, Bhole M, Steele C, Hayman G, Richter A, Gompels M, Chopra C, Garcez T, Buckland M. 

Bronchiectasis and deteriorating lung function in agammaglobulinaemia despite immunoglobulin replacement therapy. Stubbs A, Bangs C, Shillitoe B, Edgar JD, Burns SO, Thomas M, Alachkar H, Buckland M, McDermott E, Arumugakani G, Jolles MS, Herriot R, Arkwright PD. Clin Exp Immunol. 2017 Oct 9.



14 Years after Discovery: Clinical Follow-up on 15 Patients with Inducible Co-Stimulator Deficiency. Schepp J, Chou J, Skrabl-Baumgartner A, Arkwright PD, Engelhardt KR, Hambleton S, Morio T, Röther E, Warnatz K, Geha R, Grimbacher B. Front Immunol. 2017 Aug 16;8:964.



T-cell receptor αβ+ and CD19+ cell-depleted haploidentical and mismatched hematopoietic stem cell transplantation in primary immune deficiency. Shah RM, Elfeky R, Nademi Z, Qasim W, Amrolia P, Chiesa R, Rao K, Lucchini G, Silva JMF, Worth A, Barge D, Ryan D, Conn J, Cant AJ, Skinner R, Abd Hamid IJ, Flood T, Abinun M, Hambleton S, Gennery AR, Veys P, Slatter M. J Allergy Clin Immunol. 2017 Aug 3



Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations. Miot C, Imai K, Imai C, Mancini AJ, Kucuk ZY, Kawai T, Nishikomori R, Ito E, Pellier I, Dupuis Girod S, Rosain J, Sasaki S, Chandrakasan S, Pachlopnik Schmid J, Okano T, Colin E, Olaya-Vargas A, Yamazaki-Nakashimada M, Qasim W, Espinosa Padilla S, Jones A, Krol A, Cole N, Jolles S, Bleesing J, Vraetz T, Gennery AR, Abinun M, Güngör T, Costa-Carvalho B, Condino-Neto A, Veys P, Holland SM, Uzel G, Moshous D, Neven B, Blanche S, Ehl S, Döffinger R, Patel SY, Puel A, Bustamante J, Gelfand EW, Casanova JL, Orange JS, Picard C. Blood. 2017 Sep 21;130(12):1456-1467.



Outcome of hematopoietic cell transplantation for DNA double-strand break repair disorders. Slack J, Albert MH, Balashov D, Belohradsky BH, Bertaina A, Bleesing J, Booth C, Buechner J, Buckley RH, Ouachée-Chardin M, Deripapa E, Drabko K, Eapen M, Feuchtinger T, Finocchi A, Gaspar HB, Ghosh S, Gillio A, Gonzalez-Granado LI, Grunebaum E, Güngör T, Heilmann C, Helminen M, Higuchi K, Imai K, Kalwak K, Kanazawa N, Karasu G, Kucuk ZY, Laberko A, Lange A, Mahlaoui N, Meisel R, Moshous D, Muramatsu H, Parikh S, Pasic S, Schmid I, Schuetz C, Schulz A, Schultz KR, Shaw PJ, Slatter MA, Sykora KW, Tamura S, Taskinen M, Wawer A, Wolska-Kus Nierz B, Cowan MJ, Fischer A, Gennery AR; Inborn Errors Working Party of the European Society for Blood and Marrow Transplantation and the European Society for Immunodeficiencies; Stem Cell Transplant for Immunodeficiencies in Europe (SCETIDE); Center for International Blood and Marrow Transplant Research; Primary Immunodeficiency Treatment Consortium. J Allergy Clin Immunol. 2017 Apr 7. 



Identifying functional defects in patients with immune dysregulation due to LRBA and CTLA-4 mutations. Hou TZ, Verma N, Wanders J, Kennedy A, Soskic B, Janman D, Halliday N, Rowshanravan B, Worth A, Qasim W, Baxendale H, Stauss H, Seneviratne S, Neth O, Olbrich P, Hambleton S, Arkwright PD, Burns SO, Walker LS, Sansom DM. Blood. 2017 Mar 16;129(11):1458-1468. 



Long-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantation. de la Morena MT, Leonard D, Torgerson TR, Cabral-Marques O, Slatter M, Aghamohammadi A, Chandra S, Murguia-Favela L, Bonilla FA, Kanariou M, Damrongwatanasuk R, Kuo CY, Dvorak CC, Meyts I, Chen K, Kobrynski L, Kapoor N, Richter D, DiGiovanni D, Dhalla F, Farmaki E, Speckmann C, Español T, Shcherbina A, Hanson IC, Litzman J, Routes JM, Wong M, Fuleihan R, Seneviratne SL, Small TN, Janda A, Bezrodnik L, Seger R, Raccio AG, Edgar JD, Chou J, Abbott JK, van Montfrans J, González-Granado LI, Bunin N, Kutukculer N, Gray P, Seminario G, Pasic S, Aquino V, Wysocki C, Abolhassani H, Dorsey M, Cunningham-Rundles C, Knutsen AP, Sleasman J, Costa Carvalho BT, Condino-Neto A, Grunebaum E, Chapel H, Ochs HD, Filipovich A, Cowan M, Gennery A, Cant A, Notarangelo LD, Roifman CM. J Allergy Clin Immunol. 2017 Apr;139(4):1282-1292.



Accelerated Loss of TCR Repertoire Diversity in Common Variable Immunodeficiency. Wong GK, Millar D, Penny S, Heather JM, Mistry P, Buettner N, Bryon J, Huissoon AP, Cobbold M. J Immunol. 2016 Sep 1;197(5):1642-9.



Hematopoietic stem cell transplantation outcomes for 11 patients with dedicator of cytokinesis 8 deficiency. Al-Herz W, Chu JI, van der Spek J, Raghupathy R, Massaad MJ, Keles S, Biggs CM, Cockerton L, Chou J, Dbaibo G, Elisofon SA, Hanna-Wakim R, Kim HB, Lehmann LE, McDonald DR, Notarangelo LD, Veys P, Chatila TA, Geha RS, Gaspar HB, Pai SY. J Allergy Clin Immunol. 2016 Sep;138(3):852-859.e3.



AIRE is not essential for the induction of human tolerogenic dendritic cells.

Crossland KL, Abinun M, Arkwright PD, Cheetham TD, Pearce SH, Hilkens CM, Lilic D.

Autoimmunity. 2016 Jun;49(4):211-8. 



Effect of stem cell source on long-term chimerism and event-free survival in children with primaryimmunodeficiency disorders after fludarabine and melphalan conditioning regimen. Rao K, Adams S, Qasim W, Allwood Z, Worth A, Silva J, Lucchini G, Chiesa R, Veys P, Amrolia P. J Allergy Clin Immunol. 2016 Oct;138(4):1152-1160.