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Items: 1 to 50 of 165

1.

Allogeneic HSCT for Autoimmune Diseases: A Retrospective Study From the EBMT ADWP, IEWP, and PDWP Working Parties.

Greco R, Labopin M, Badoglio M, Veys P, Furtado Silva JM, Abinun M, Gualandi F, Bornhauser M, Ciceri F, Saccardi R, Lankester A, Alexander T, Gennery AR, Bader P, Farge D, Snowden JA.

Front Immunol. 2019 Jul 4;10:1570. doi: 10.3389/fimmu.2019.01570. eCollection 2019.

2.

Two decades of excellent transplant survival for chronic granulomatous disease: a supraregional immunology transplant center report.

Lum SH, Flood T, Hambleton S, McNaughton P, Watson H, Abinun M, Owens S, Cigrovski N, Cant A, Gennery AR, Slatter M.

Blood. 2019 Jun 6;133(23):2546-2549. doi: 10.1182/blood.2019000021. Epub 2019 Apr 5. No abstract available.

PMID:
30952673
3.

New graft manipulation strategies improve the outcome of mismatched stem cell transplantation in children with primary immunodeficiencies.

Elfeky R, Shah RM, Unni MNM, Ottaviano G, Rao K, Chiesa R, Amrolia P, Worth A, Flood T, Abinun M, Hambleton S, Cant AJ, Gilmour K, Adams S, Ahsan G, Barge D, Gennery AR, Qasim W, Slatter M, Veys P.

J Allergy Clin Immunol. 2019 Jul;144(1):280-293. doi: 10.1016/j.jaci.2019.01.030. Epub 2019 Feb 4.

PMID:
30731121
4.

Adjuvant rituximab, a potential treatment for the young patient with Graves' hyperthyroidism (RiGD): study protocol for a single-arm, single-stage, phase II trial.

Cole M, Hynes AM, Howel D, Hall L, Abinun M, Allahabadia A, Barrett T, Boelaert K, Drake AJ, Dimitri P, Kirk J, Zammitt N, Pearce S, Cheetham T.

BMJ Open. 2019 Jan 21;9(1):e024705. doi: 10.1136/bmjopen-2018-024705.

5.

Jakinibs for the treatment of immune dysregulation in patients with gain-of-function signal transducer and activator of transcription 1 (STAT1) or STAT3 mutations.

Forbes LR, Vogel TP, Cooper MA, Castro-Wagner J, Schussler E, Weinacht KG, Plant AS, Su HC, Allenspach EJ, Slatter M, Abinun M, Lilic D, Cunningham-Rundles C, Eckstein O, Olbrich P, Guillerman RP, Patel NC, Demirdag YY, Zerbe C, Freeman AF, Holland SM, Szabolcs P, Gennery A, Torgerson TR, Milner JD, Leiding JW.

J Allergy Clin Immunol. 2018 Nov;142(5):1665-1669. doi: 10.1016/j.jaci.2018.07.020. Epub 2018 Aug 6. No abstract available.

PMID:
30092289
6.

Biallelic RIPK1 mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammation.

Cuchet-Lourenço D, Eletto D, Wu C, Plagnol V, Papapietro O, Curtis J, Ceron-Gutierrez L, Bacon CM, Hackett S, Alsaleem B, Maes M, Gaspar M, Alisaac A, Goss E, AlIdrissi E, Siegmund D, Wajant H, Kumararatne D, AlZahrani MS, Arkwright PD, Abinun M, Doffinger R, Nejentsev S.

Science. 2018 Aug 24;361(6404):810-813. doi: 10.1126/science.aar2641. Epub 2018 Jul 19.

7.

Hematopoietic stem cell transplantation for cytidine triphosphate synthase 1 (CTPS1) deficiency.

Nademi Z, Wynn RF, Slatter M, Hughes SM, Bonney D, Qasim W, Latour S, Trück J, Patel S, Abinun M, Flood T, Hambleton S, Cant AJ, Gennery AR, Arkwright PD.

Bone Marrow Transplant. 2019 Jan;54(1):130-133. doi: 10.1038/s41409-018-0246-x. Epub 2018 Jun 8. No abstract available.

PMID:
29884857
8.

Allogeneic hematopoietic stem cell transplantation for severe, refractory juvenile idiopathic arthritis.

M F Silva J, Ladomenou F, Carpenter B, Chandra S, Sedlacek P, Formankova R, Grandage V, Friswell M, Cant AJ, Nademi Z, Slatter MA, Gennery AR, Hambleton S, Flood TJ, Lucchini G, Chiesa R, Rao K, Amrolia PJ, Brogan P, Wedderburn LR, Glanville JM, Hough R, Marsh R, Abinun M, Veys P.

Blood Adv. 2018 Apr 10;2(7):777-786. doi: 10.1182/bloodadvances.2017014449.

9.

Non-posttransplant lymphoproliferative disorder malignancy after hematopoietic stem cell transplantation in patients with primary immunodeficiency: UK experience.

Unni MNM, Elfeky R, Rao K, Nademi Z, Chiesa R, Amrolia P, Skinner R, Slater O, Worth A, Flood T, Abinun M, Hambleton S, Qasim W, Gaspar HB, Cant AJ, Gennery AR, Veys P, Slatter MA.

J Allergy Clin Immunol. 2018 Jun;141(6):2319-2321.e1. doi: 10.1016/j.jaci.2018.02.038. Epub 2018 Mar 7. No abstract available.

PMID:
29524534
10.

Treosulfan and Fludarabine Conditioning for Hematopoietic Stem Cell Transplantation in Children with Primary Immunodeficiency: UK Experience.

Slatter MA, Rao K, Abd Hamid IJ, Nademi Z, Chiesa R, Elfeky R, Pearce MS, Amrolia P, Worth A, Flood T, Abinun M, Hambleton S, Qasim W, Gaspar HB, Cant AJ, Gennery AR, Veys P.

Biol Blood Marrow Transplant. 2018 Mar;24(3):529-536. doi: 10.1016/j.bbmt.2017.11.009. Epub 2017 Nov 16.

11.

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. 2018 Apr;141(4):1417-1426.e1. doi: 10.1016/j.jaci.2017.07.008. Epub 2017 Aug 3. Erratum in: J Allergy Clin Immunol. 2019 May;143(5):1977.

PMID:
28780238
12.

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. doi: 10.1182/blood-2017-03-771600. Epub 2017 Jul 5.

13.

Risks of serious infections in children treated with biologic response-modifying drugs.

Abinun M.

Rheumatology (Oxford). 2018 Feb 1;57(2):211-212. doi: 10.1093/rheumatology/kex228. No abstract available.

PMID:
28666379
14.

Hematopoietic stem cell transplantation in patients with gain-of-function signal transducer and activator of transcription 1 mutations.

Leiding JW, Okada S, Hagin D, Abinun M, Shcherbina A, Balashov DN, Kim VHD, Ovadia A, Guthery SL, Pulsipher M, Lilic D, Devlin LA, Christie S, Depner M, Fuchs S, van Royen-Kerkhof A, Lindemans C, Petrovic A, Sullivan KE, Bunin N, Kilic SS, Arpaci F, Calle-Martin O, Martinez-Martinez L, Aldave JC, Kobayashi M, Ohkawa T, Imai K, Iguchi A, Roifman CM, Gennery AR, Slatter M, Ochs HD, Morio T, Torgerson TR; Inborn Errors Working Party of the European Society for Blood and Marrow Transplantation and the Primary Immune Deficiency Treatment Consortium.

J Allergy Clin Immunol. 2018 Feb;141(2):704-717.e5. doi: 10.1016/j.jaci.2017.03.049. Epub 2017 Jun 7.

PMID:
28601685
15.

Disseminated Mycobacterium malmoense and Salmonella Infections Associated with a Novel Variant in NFKBIA.

Staples E, Morillo-Gutierrez B, Davies J, Petersheim D, Massaad M, Slatter M, Dimou D, Doffinger R, Hackett S, Kumararatne D, Hadfield J, Eldridge MD, Geha RS, Abinun M, Thaventhiran JED.

J Clin Immunol. 2017 Jul;37(5):415-418. doi: 10.1007/s10875-017-0390-x. Epub 2017 Apr 17. No abstract available.

16.

Hematopoietic stem cell transplantation corrects osteopetrosis in a child carrying a novel homozygous mutation in the FERMT3 gene.

Palagano E, Slatter MA, Uva P, Menale C, Villa A, Abinun M, Sobacchi C.

Bone. 2017 Apr;97:126-129. doi: 10.1016/j.bone.2017.01.012. Epub 2017 Jan 14.

PMID:
28095295
17.

Hematopoietic stem cell transplant in patients with activated PI3K delta syndrome.

Nademi Z, Slatter MA, Dvorak CC, Neven B, Fischer A, Suarez F, Booth C, Rao K, Laberko A, Rodina J, Bertrand Y, Kołtan S, Dębski R, Flood T, Abinun M, Gennery AR, Hambleton S, Ehl S, Cant AJ.

J Allergy Clin Immunol. 2017 Mar;139(3):1046-1049. doi: 10.1016/j.jaci.2016.09.040. Epub 2016 Nov 12. No abstract available.

PMID:
27847301
18.

Identification of Heterozygous Single- and Multi-exon Deletions in IL7R by Whole Exome Sequencing.

Engelhardt KR, Xu Y, Grainger A, Germani Batacchi MG, Swan DJ, Willet JD, Abd Hamid IJ, Agyeman P, Barge D, Bibi S, Jenkins L, Flood TJ, Abinun M, Slatter MA, Gennery AR, Cant AJ, Santibanez Koref M, Gilmour K, Hambleton S.

J Clin Immunol. 2017 Jan;37(1):42-50. doi: 10.1007/s10875-016-0343-9. Epub 2016 Nov 2.

19.

Infection-Related Death among Persons with Refractory Juvenile Idiopathic Arthritis.

Abinun M, Lane JP, Wood M, Friswell M, Flood TJ, Foster HE.

Emerg Infect Dis. 2016 Oct;22(10):1720-7. doi: 10.3201/eid2210.151245.

20.

Aggressive anti-inflammatory treatment for refractory Kawasaki disease.

Owens S, Agyeman P, Whyte M, Crossland D, Flood T, Abinun M.

J Infect. 2017 Jan;74(1):91-95. doi: 10.1016/j.jinf.2016.08.015. Epub 2016 Aug 31. No abstract available.

PMID:
27592262
21.

Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease.

Zhou Q, Yu X, Demirkaya E, Deuitch N, Stone D, Tsai WL, Kuehn HS, Wang H, Yang D, Park YH, Ombrello AK, Blake M, Romeo T, Remmers EF, Chae JJ, Mullikin JC, Güzel F, Milner JD, Boehm M, Rosenzweig SD, Gadina M, Welch SB, Özen S, Topaloglu R, Abinun M, Kastner DL, Aksentijevich I.

Proc Natl Acad Sci U S A. 2016 Sep 6;113(36):10127-32. doi: 10.1073/pnas.1612594113. Epub 2016 Aug 24.

22.

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

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.

J Allergy Clin Immunol. 2017 Feb;139(2):597-606.e4. doi: 10.1016/j.jaci.2016.06.021. Epub 2016 Jul 16.

23.

Hematopoietic stem cell transplantation for CTLA4 deficiency.

Slatter MA, Engelhardt KR, Burroughs LM, Arkwright PD, Nademi Z, Skoda-Smith S, Hagin D, Kennedy A, Barge D, Flood T, Abinun M, Wynn RF, Gennery AR, Cant AJ, Sansom D, Hambleton S, Torgerson TR.

J Allergy Clin Immunol. 2016 Aug;138(2):615-619.e1. doi: 10.1016/j.jaci.2016.01.045. Epub 2016 Apr 18. No abstract available.

PMID:
27102614
24.

Haploidentical CD3 TCRαβ and CD19-depleted second stem cell transplant for steroid-resistant acute skin graft versus host disease.

Slatter M, Nademi Z, Leahy TR, Morillo-Gutierrez B, Dunn J, Barge D, Skinner R, Ryan C, Hambleton S, Abinun M, Flood T, Cant A, Gennery A.

J Allergy Clin Immunol. 2016 Aug;138(2):603-605.e1. doi: 10.1016/j.jaci.2015.12.1335. Epub 2016 Mar 23. No abstract available.

PMID:
27016800
25.

Erratum to: Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency.

Dang TS, Willet JD, Griffin HR, Morgan NV, O'Boyle G, Arkwright PD, Hughes SM, Abinun M, Tee LJ, Barge D, Engelhardt KR, Jackson M, Cant AJ, Maher ER, Koref MS, Reynard LN, Ali S, Hambleton S.

J Clin Immunol. 2016 Apr;36(3):336-7. doi: 10.1007/s10875-016-0248-7. No abstract available.

26.

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. doi: 10.3109/08916934.2016.1148692. Epub 2016 Feb 25.

PMID:
26912174
27.

Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency.

Dang TS, Willet JD, Griffin HR, Morgan NV, O'Boyle G, Arkwright PD, Hughes SM, Abinun M, Tee LJ, Barge D, Engelhardt KR, Jackson M, Cant AJ, Maher ER, Koref MS, Reynard LN, Ali S, Hambleton S.

J Clin Immunol. 2016 Feb;36(2):117-22. doi: 10.1007/s10875-016-0232-2. Epub 2016 Jan 22. Erratum in: J Clin Immunol. 2016 Apr;36(3):336-7.

28.

Astute Clinician Report: A Novel 10 bp Frameshift Deletion in Exon 2 of ICOS Causes a Combined Immunodeficiency Associated with an Enteritis and Hepatitis.

Robertson N, Engelhardt KR, Morgan NV, Barge D, Cant AJ, Hughes SM, Abinun M, Xu Y, Koref MS, Arkwright PD, Hambleton S.

J Clin Immunol. 2015 Oct;35(7):598-603. doi: 10.1007/s10875-015-0193-x. Epub 2015 Sep 23.

29.

Gain-of-function STAT1 mutations impair STAT3 activity in patients with chronic mucocutaneous candidiasis (CMC).

Zheng J, van de Veerdonk FL, Crossland KL, Smeekens SP, Chan CM, Al Shehri T, Abinun M, Gennery AR, Mann J, Lendrem DW, Netea MG, Rowan AD, Lilic D.

Eur J Immunol. 2015 Oct;45(10):2834-46. doi: 10.1002/eji.201445344. Epub 2015 Sep 1.

30.

Severe combined immunodeficiency syndrome presenting with disseminated BCG infection.

Fitzpatrick P, Leonard J, Twomey E, Malone A, Nademi Z, Jackson M, Abinun M, Leahy TR, Gavin PJ.

Arch Dis Child. 2015 Sep;100(9):891. doi: 10.1136/archdischild-2015-308598. Epub 2015 Jun 30. No abstract available.

PMID:
26130382
31.

Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)-associated inflammatory diseases.

Holzinger D, Fassl SK, de Jager W, Lohse P, Röhrig UF, Gattorno M, Omenetti A, Chiesa S, Schena F, Austermann J, Vogl T, Kuhns DB, Holland SM, Rodríguez-Gallego C, López-Almaraz R, Arostegui JI, Colino E, Roldan R, Fessatou S, Isidor B, Poignant S, Ito K, Epple HJ, Bernstein JA, Jeng M, Frankovich J, Lionetti G, Church JA, Ong PY, LaPlant M, Abinun M, Skinner R, Bigley V, Sachs UJ, Hinze C, Hoppenreijs E, Ehrchen J, Foell D, Chae JJ, Ombrello A, Aksentijevich I, Sunderkoetter C, Roth J.

J Allergy Clin Immunol. 2015 Nov;136(5):1337-45. doi: 10.1016/j.jaci.2015.04.016. Epub 2015 May 27.

32.

Gut immune reconstitution in immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome after hematopoietic stem cell transplantation.

Gambineri E, Ciullini Mannurita S, Robertson H, Vignoli M, Haugk B, Lionetti P, Hambleton S, Barge D, Gennery AR, Slatter M, Nademi Z, Flood TJ, Jackson A, Abinun M, Cant AJ.

J Allergy Clin Immunol. 2015 Jan;135(1):260-2. doi: 10.1016/j.jaci.2014.09.009. Epub 2014 Oct 25. No abstract available.

33.

Performance of current guidelines for diagnosis of macrophage activation syndrome complicating systemic juvenile idiopathic arthritis.

Davì S, Minoia F, Pistorio A, Horne A, Consolaro A, Rosina S, Bovis F, Cimaz R, Gamir ML, Ilowite NT, Kone-Paut I, Feitosa de Oliveira SK, McCurdy D, Silva CA, Sztajnbok F, Tsitsami E, Unsal E, Weiss JE, Wulffraat N, Abinun M, Aggarwal A, Apaz MT, Astigarraga I, Corona F, Cuttica R, D'Angelo G, Eisenstein EM, Hashad S, Lepore L, Mulaosmanovic V, Nielsen S, Prahalad S, Rigante D, Stanevicha V, Sterba G, Susic G, Takei S, Trauzeddel R, Zletni M, Ruperto N, Martini A, Cron RQ, Ravelli A; Paediatric Rheumatology International Trials Organisation, the Childhood Arthritis and Rheumatology Research Alliance, the Pediatric Rheumatology Collaborative Study Group, and the Histiocyte Society.

Arthritis Rheumatol. 2014 Oct;66(10):2871-80. doi: 10.1002/art.38769.

34.

Abnormally differentiated CD4+ or CD8+ T cells with phenotypic and genetic features of double negative T cells in human Fas deficiency.

Rensing-Ehl A, Völkl S, Speckmann C, Lorenz MR, Ritter J, Janda A, Abinun M, Pircher H, Bengsch B, Thimme R, Fuchs I, Ammann S, Allgäuer A, Kentouche K, Cant A, Hambleton S, Bettoni da Cunha C, Huetker S, Kühnle I, Pekrun A, Seidel MG, Hummel M, Mackensen A, Schwarz K, Ehl S.

Blood. 2014 Aug 7;124(6):851-60. doi: 10.1182/blood-2014-03-564286. Epub 2014 Jun 3.

PMID:
24894771
35.

ICON: the early diagnosis of congenital immunodeficiencies.

Routes J, Abinun M, Al-Herz W, Bustamante J, Condino-Neto A, De La Morena MT, Etzioni A, Gambineri E, Haddad E, Kobrynski L, Le Deist F, Nonoyama S, Oliveira JB, Perez E, Picard C, Rezaei N, Sleasman J, Sullivan KE, Torgerson T.

J Clin Immunol. 2014 May;34(4):398-424. doi: 10.1007/s10875-014-0003-x. Epub 2014 Mar 12. Review.

PMID:
24619621
36.

Early-onset stroke and vasculopathy associated with mutations in ADA2.

Zhou Q, Yang D, Ombrello AK, Zavialov AV, Toro C, Zavialov AV, Stone DL, Chae JJ, Rosenzweig SD, Bishop K, Barron KS, Kuehn HS, Hoffmann P, Negro A, Tsai WL, Cowen EW, Pei W, Milner JD, Silvin C, Heller T, Chin DT, Patronas NJ, Barber JS, Lee CC, Wood GM, Ling A, Kelly SJ, Kleiner DE, Mullikin JC, Ganson NJ, Kong HH, Hambleton S, Candotti F, Quezado MM, Calvo KR, Alao H, Barham BK, Jones A, Meschia JF, Worrall BB, Kasner SE, Rich SS, Goldbach-Mansky R, Abinun M, Chalom E, Gotte AC, Punaro M, Pascual V, Verbsky JW, Torgerson TR, Singer NG, Gershon TR, Ozen S, Karadag O, Fleisher TA, Remmers EF, Burgess SM, Moir SL, Gadina M, Sood R, Hershfield MS, Boehm M, Kastner DL, Aksentijevich I.

N Engl J Med. 2014 Mar 6;370(10):911-20. doi: 10.1056/NEJMoa1307361. Epub 2014 Feb 19.

37.

Severe combined immunodeficiency in Serbia and Montenegro between years 1986 and 2010: a single-center experience.

Pasic S, Vujic D, Veljković D, Slavkovic B, Mostarica-Stojkovic M, Minic P, Minic A, Ristic G, Giliani S, Villa A, Sobacchi C, Lilić D, Abinun M.

J Clin Immunol. 2014 Apr;34(3):304-8. doi: 10.1007/s10875-014-9991-9. Epub 2014 Feb 1.

PMID:
24481607
38.

Immunological characteristics and T-cell receptor clonal diversity in children with systemic juvenile idiopathic arthritis undergoing T-cell-depleted autologous stem cell transplantation.

Wu Q, Pesenacker AM, Stansfield A, King D, Barge D, Foster HE, Abinun M, Wedderburn LR.

Immunology. 2014 Jun;142(2):227-36. doi: 10.1111/imm.12245.

39.

Single centre experience of haematopoietic SCT for patients with immunodysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.

Nademi Z, Slatter M, Gambineri E, Mannurita SC, Barge D, Hodges S, Bunn S, Thomas J, Haugk B, Hambleton S, Flood T, Cant A, Abinun M, Gennery A.

Bone Marrow Transplant. 2014 Feb;49(2):310-2. doi: 10.1038/bmt.2013.181. Epub 2013 Nov 25. No abstract available.

PMID:
24270390
40.

Low-dose serotherapy improves early immune reconstitution after cord blood transplantation for primary immunodeficiencies.

Lane JP, Evans PT, Nademi Z, Barge D, Jackson A, Hambleton S, Flood TJ, Cant AJ, Abinun M, Slatter MA, Gennery AR.

Biol Blood Marrow Transplant. 2014 Feb;20(2):243-9. doi: 10.1016/j.bbmt.2013.11.005. Epub 2013 Nov 10.

41.

Phenotypic variations of cartilage hair hypoplasia: granulomatous skin inflammation and severe T cell immunodeficiency as initial clinical presentation in otherwise well child with short stature.

McCann LJ, McPartland J, Barge D, Strain L, Bourn D, Calonje E, Verbov J, Riordan A, Kokai G, Bacon CM, Wright M, Abinun M.

J Clin Immunol. 2014 Jan;34(1):42-8. doi: 10.1007/s10875-013-9962-6. Epub 2013 Nov 12.

PMID:
24217815
42.

Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage.

Angulo I, Vadas O, Garçon F, Banham-Hall E, Plagnol V, Leahy TR, Baxendale H, Coulter T, Curtis J, Wu C, Blake-Palmer K, Perisic O, Smyth D, Maes M, Fiddler C, Juss J, Cilliers D, Markelj G, Chandra A, Farmer G, Kielkowska A, Clark J, Kracker S, Debré M, Picard C, Pellier I, Jabado N, Morris JA, Barcenas-Morales G, Fischer A, Stephens L, Hawkins P, Barrett JC, Abinun M, Clatworthy M, Durandy A, Doffinger R, Chilvers ER, Cant AJ, Kumararatne D, Okkenhaug K, Williams RL, Condliffe A, Nejentsev S.

Science. 2013 Nov 15;342(6160):866-71. doi: 10.1126/science.1243292. Epub 2013 Oct 17.

43.

Sequential decisions on FAS sequencing guided by biomarkers in patients with lymphoproliferation and autoimmune cytopenia.

Rensing-Ehl A, Janda A, Lorenz MR, Gladstone BP, Fuchs I, Abinun M, Albert M, Butler K, Cant A, Cseh AM, Ebinger M, Goldacker S, Hambleton S, Hebart H, Houet L, Kentouche K, Kühnle I, Lehmberg K, Mejstrikova E, Niemeyer C, Minkov M, Neth O, Dückers G, Owens S, Rösler J, Schilling FH, Schuster V, Seidel MG, Smisek P, Sukova M, Svec P, Wiesel T, Gathmann B, Schwarz K, Vach W, Ehl S, Speckmann C.

Haematologica. 2013 Dec;98(12):1948-55. doi: 10.3324/haematol.2012.081901. Epub 2013 Jul 12.

44.

A UK national audit of hereditary and acquired angioedema.

Jolles S, Williams P, Carne E, Mian H, Huissoon A, Wong G, Hackett S, Lortan J, Platts V, Longhurst H, Grigoriadou S, Dempster J, Deacock S, Khan S, Darroch J, Simon C, Thomas M, Pavaladurai V, Alachkar H, Herwadkar A, Abinun M, Arkwright P, Tarzi M, Helbert M, Bangs C, Pastacaldi C, Phillips C, Bennett H, El-Shanawany T.

Clin Exp Immunol. 2014 Jan;175(1):59-67. doi: 10.1111/cei.12159.

45.

RANKL cytokine: from pioneer of the osteoimmunology era to cure for a rare disease.

Lo Iacono N, Pangrazio A, Abinun M, Bredius R, Zecca M, Blair HC, Vezzoni P, Villa A, Sobacchi C.

Clin Dev Immunol. 2013;2013:412768. doi: 10.1155/2013/412768. Epub 2013 May 15. Review.

46.

Haploidentical hematopoietic stem cell transplantation can lead to viral clearance in severe combined immunodeficiency.

Slatter M, Nademi Z, Patel S, Barge D, Valappil M, Brigham K, Hambleton S, Clark J, Flood T, Cant A, Abinun M, Gennery A.

J Allergy Clin Immunol. 2013 Jun;131(6):1705-8. doi: 10.1016/j.jaci.2013.03.036. No abstract available.

PMID:
23726534
47.

Graves' immune reconstitution inflammatory syndrome in childhood.

Sinha A, Abinun M, Gennery AR, Barge D, Slatter M, Cheetham T.

Thyroid. 2013 Aug;23(8):1010-4. doi: 10.1089/thy.2012.0618.

PMID:
23556479
48.

New autoimmune diseases after cord blood transplantation: a retrospective study of EUROCORD and the Autoimmune Disease Working Party of the European Group for Blood and Marrow Transplantation.

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