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  1. Méneret A, Ahmar-Beaugendre Y, Rieunier G, Mahlaoui N, Gaymard B, Apartis E, Tranchant C, Rivaud-Péchoux S, Degos B, Benyahia B, Suarez F, Maisonobe T, Koenig M, Durr A, Stern MH, Dubois d'Enghien C, Fischer A, Vidailhet M, Stoppa-Lyonnet D, Grabli D, Anheim M.The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia. Neurology. 2014 Sep 16;83(12):1087-95.
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  3. Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4.Science. 2014 Sep 26;345(6204):1623-7.
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  5. Janssen E, Morbach H, Ullas S, Bannock JM, Massad C, Menard L, Barlan I, Lefranc G, Su H, Dasouki M, Al-Herz W, Keles S, Chatila T, Geha RS, Meffre E.Dedicator of cytokinesis 8-deficient patients have a breakdown in peripheral B-cell tolerance and defective regulatory T cells.J Allergy Clin Immunol. 2014 Dec;134(6):1365-74. doi: 10.1016/j.jaci.2014.07.042. Epub 2014 Sep 11.
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  8. Comparison of outcomes of hematopoietic stem cell transplantation without chemotherapy conditioning by using matched sibling and unrelated donors for treatment of severe combined immunodeficiency.J Allergy Clin Immunol. 2014 Oct;134(4):935-943.e15.
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  12. Hacein-Bey-Abina S, Pai SY, Gaspar HB, Armant M, Berry CC, Blanche S, Bleesing J, Blondeau J, de Boer H, Buckland KF, Caccavelli L, Cros G, De Oliveira S, Fernández KS, Guo D, Harris CE, Hopkins G, Lehmann LE, Lim A, London WB, van der Loo JC, Malani N, Male F, Malik P, Marinovic MA, McNicol AM, Moshous D, Neven B, Oleastro M, Picard C, Ritz J, Rivat C, Schambach A, Shaw KL, Sherman EA, Silberstein LE, Six E, Touzot F, Tsytsykova A, Xu-Bayford J, Baum C, Bushman FD, Fischer A, Kohn DB, Filipovich AH, Notarangelo LD, Cavazzana M, Williams DA, Thrasher AJ.A modified γ-retrovirus vector for X-linked severe combined immunodeficiency.N Engl J Med. 2014 Oct 9;371(15):1407-17.
  13. 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.Gut immune reconstitution in immune dysregulation, polyendocrinopathy,enteropathy, X-linked syndrome after hematopoietic stem cell transplantation.J Allergy Clin Immunol. 2014 Oct 25. pii: S0091-6749(14)01318-9.
  14. Chou J, Massaad MJ, Wakim RH, Bainter W, Dbaibo G, Geha RS.A novel mutation in FOXN1 resulting in SCID: A case report and literature review. Clin Immunol. 2014 Nov;155(1):30-2.
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  17. Chida N, Kobayashi I, Takezaki S, Ueki M, Yamazaki Y, Garelli S, Scarpa R, Horikawa R, Yamada M, Betterle C, Notarangelo LD, Yawaka Y, Ariga T. Disease specificity of anti-tryptophan hydroxylase-1 and anti-AIE-75 autoantibodies in APECED and IPEX syndrome.Clin Immunol. 2014 Nov 8;156(1):36-42.
  18. Notarangelo L, Savoldi G, Cavagnini S, Bennato V, Vasile S, Pilotta A, Plebani A, Porta F.Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype in two patients with two novel mutations.Ital J Pediatr. 2014 Nov 14;40(1):80.
  19. Oshima K, Imai K, Albert MH, Bittner TC, Strauss G, Filipovich AH, Morio T, Kapoor N, Dalal J, Schultz KR, Casper JT, Notarangelo LD, Ochs HD, Nonoyama S.Hematopoietic Stem Cell Transplantation for X-Linked Thrombocytopenia With Mutations in the WAS gene.J Clin Immunol. 2014 Nov 12.
  20. Notarangelo LD.Multiple intestinal atresia with combined immune deficiency.Curr Opin Pediatr. 2014 Dec;26(6):690-6.
  21. Milner JD, Vogel TP, Forbes L, Ma CA, Stray-Pedersen A, Niemela JE, Lyons JJ, Engelhardt KR, Zhang Y, Topcagic N, Roberson ED, Matthews H, Verbsky JW, Dasu T, Vargas-Hernandez A, Varghese N, McClain KL, Karam LB, Nahmod K, Makedonas G, Mace EM, Sorte HS, Perminow G, Rao VK, O'Connell MP, Price S, Su HC, Butrick M, McElwee J, Hughes J, Willet J, Swan D, Xu Y, Santibanez-Koref M, Slowik V, Dinwiddie DL, Ciaccio CE, Saunders CJ, Septer S, Kingsmore SF, White AJ, Cant AJ, Hambleton S, Cooper MA.Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations.Blood. 2014 Oct 30. pii: blood-2014-09-602763.
  22. Bustamante J, Boisson-Dupuis S, Abel L, Casanova JL.Mendelian susceptibility to mycobacterial disease: Genetic, immunological, and clinical features of inborn errors of IFN-γ immunity. Semin Immunol. 2014 Oct 26;26(6):454-470.
  23. Frans G, Moens L, Schaballie H, Van Eyck L, Borgers H, Wuyts M, Dillaerts D, Vermeulen E, Dooley J, Grimbacher B, Cant A, Declerck D, Peumans M, Renard M, De Boeck K, Hoffman I, François I, Liston A, Claessens F, Bossuyt X, Meyts I. Gain-of-function mutations in signal transducer and activator of transcription 1 (STAT1): Chronic mucocutaneous candidiasis accompanied by enamel defects and delayed dental shedding.J Allergy Clin Immunol. 2014 Nov;134(5):1209-1213.e6.
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  25. Kharya G, Nademi Z, Leahy TR, Dunn J, Barge D, Schulz A, Cant A, Gennery A, Slatter M.Haploidentical T-cell alpha beta receptor and CD19-depleted stem cell transplant for Wiskott-Aldrich syndrome. J Allergy Clin Immunol. 2014 Nov;134(5):1199-201.
  26. Willmann KL, Klaver S, Doğu F, Santos-Valente E, Garncarz W, Bilic I, Mace E, Salzer E, Domínguez Conde C, Sic H, Májek P, Banerjee PP, Vladimer GI, Haskoloğlu S, Gökalp Bolkent M, Küpesiz A, Condino-Neto A, Colinge J, Superti-Furga G, Pickl WF, van Zelm MC, Eibel H, Orange JS, Ikincioğulları A, Boztuğ K.Biallelic loss-of-function mutation in NIK causes a primary immunodeficiency with multifaceted aberrant lymphoid immunity.Nat Commun. 2014 Nov 19;5:5360.
  27. Beşer OF, Conde CD, Serwas N, Cokuğraş FC, Kutlu T, Boztuğ K, Erkan T. Clinical Features of Interleukin-10 Receptor Gene Mutations in Children With Very Early-onset Inflammatory Bowel Disease.J Pediatr Gastroenterol Nutr. 2014 Nov 3.
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  41. Suarez F, Mahlaoui N, Canioni D, Andriamanga C, d'Enghien CD, Brousse N, Jais JP, Fischer A, Hermine O, Stoppa-Lyonnet D. Incidence, Presentation, and Prognosis of Malignancies in Ataxia-Telangiectasia: A Report From the French National Registry of Primary Immune Deficiencies.J Clin Oncol. 2014 Dec 8. pii: JCO.2014.56.5101.
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