• banniere5.jpg

    banniere5.jpg

  • banniere4.jpg

    banniere4.jpg

  • banniere2.jpg

    banniere2.jpg

  • banniere3.jpg

    banniere3.jpg

  1. Hedayat M, Massaad MJ, Lee YN, Conley ME, Orange JS, Ohsumi TK, Al-Herz W, Notarangelo LD, Geha RS, Chou J. Lessons in gene hunting: A RAG1 mutation presenting with agammaglobulinemia and absence of B cells. J Allergy Clin Immunol. 2014 Jun 27.
  2. Meazza R, Tuberosa C, Cetica V, Falco M, Parolini S, Grieve S, Griffiths GM, Sieni E, Marcenaro S, Micalizzi C, Montin D, Fagioli F, Moretta A, Mingari MC, Moretta L, Notarangelo LD, Bottino C, Aricò M, Pende D. Diagnosing XLP1 in patients with hemophagocytic lymphohistiocytosis. J Allergy Clin Immunol. 2014 Jun 27.
  3. Bouma G, Carter NA, Recher M, Malinova D, Adriani M, Notarangelo LD, Burns SO, Mauri C, Thrasher AJ. Exacerbated experimental arthritis in Wiskott-Aldrich syndrome protein deficiency: Modulatory role of regulatory B cells. Eur J Immunol. 2014 Jun 19.
  4. Felgentreff K, Du L, Weinacht KG, Dobbs K, Bartish M, Giliani S, Schlaeger T, DeVine A, Schambach A, Woodbine LJ, Davies G, Baxi SN, van der Burg M, Bleesing J, Gennery A, Manis J, Pan-Hammarström Q, Notarangelo LD. Differential role of nonhomologous end joining factors in the generation, DNA damage response, and myeloid differentiation of human induced pluripotent stem cells. Proc Natl Acad Sci U S A. 2014 Jun 17;111(24):8889-94.
  5. 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 Jun 27.
  6. Buckland KF, Bobby Gaspar H. Gene and cell therapy for children--new medicines, new challenges? Adv Drug Deliv Rev. 2014 Jun; 73:162-9.
  7. Hassan A, Lee P, Maggina P, Xu JH, Moreira D, Slatter M, Nademi Z, Worth A, Adams S, Jones A, Cale C, Allwood Z, Rao K, Chiesa R, Amrolia P, Gaspar H, Davies EG, Veys P, Gennery A, Qasim W. Host natural killer immunity is a key indicator of permissiveness for donor cell engraftment in patients with severe combined immunodeficiency. J Allergy Clin Immunol 2014 Jun;133(6):1660-6.
  8. Marrella V, Poliani PL, Notarangelo LD, Villa A. Rag defects and thymic stroma: lessons from animal models. Front Immunol. 2014 Jun 2; 5:259.
  9. Pai SY, Logan BR, Griffith LM, Buckley RH, Parrott RE, Dvorak CC, Kapoor N, Hanson IC, Filipovich AH, Jyonouchi S, Sullivan KE, Small TN, Burroughs L, Skoda-Smith S, Haight AE, Grizzle A, Pulsipher MA, Chan KW, Fuleihan RL, Haddad E, Loechelt B, Aquino VM, Gillio A, Davis J, Knutsen A, Smith AR, Moore TB, Schroeder ML, Goldman FD, Connelly JA, Porteus MH, Xiang Q, Shearer WT, Fleisher TA, Kohn DB, Puck JM, Notarangelo LD, Cowan MJ, O'Reilly RJ. Transplantation outcomes for severe combined immunodeficiency, 2000-2009. N Engl J Med. 2014 Jul 31;371(5):434-46.
  10. Huang K, Wu Z, Liu Z, Hu G, Yu J, Chang KH, Kim KP, Le T, Faull KF, Rao N, Gennery A, Xue Z, Wang CY, Pellegrini M, Fan G. Selective demethylation and altered gene expression are associated with ICF syndrome in human-induced pluripotent stem cells and mesenchymal stem cells. Hum Mol Genet. 2014 Jul 15.
  11. Abolhassani H, Wang N, Aghamohammadi A, Rezaei N, Lee YN, Frugoni F, Notarangelo LD, Pan-Hammarström Q, Hammarström L. A hypomorphic recombination-activating gene 1 (RAG1) mutation resulting in a phenotype resembling common variable immunodeficiency. J Allergy Clin Immunol. 2014 Jul 2.
  12. De Ravin SS, Parta M, Sutton DA, Wickes BL, Thompson EH, Wiederhold NP, Nakasone KK, Alimchandani M, OConnell A, Notarangelo L, Kang E, Malech HL, Zelazny AM. Paravertebral mushroom: identification of a novel species of Phellinus as a human pathogen in chronic granulomatous disease. J Clin Microbiol. 2014 Jul;52(7):2726-9.
  13. Fuchs S, Rensing-Ehl A, Erlacher M, Vraetz T, Hartjes L, Janda A, Rizzi M, Lorenz MR, Gilmour K, de Saint-Basile G, Roifman CM, Cheuk S, Gennery A, Thrasher AJ, Fuchs I, Schwarz K, Speckmann C, Ehl S. Patients with T+/low NK+ IL-2 receptor γ chain deficiency have differentially impaired cytokine signaling resulting in severe combined immunodeficiency. Eur J Immunol. 2014 Jul 14. doi:
  14. Crestani E, Choo S, Frugoni F, Lee YN, Richards S, Smart J, Notarangelo LD. RAG1 reversion mosaicism in a patient with omenn syndrome. J Clin Immunol. 2014 Jul;34(5):551-4.
  15. Chiappelli J, Pocivavsek A, Nugent KL, Notarangelo FM, Kochunov P, Rowland LM, Schwarcz R, Hong LE. Stress-induced increase in kynurenic acid as a potential biomarker for patients with schizophrenia and distress intolerance. JAMA Psychiatry. 2014 Jul 1;71(7):761-8.
  16. la Marca G, Canessa C, Giocaliere E, Romano F, Malvagia S, Funghini S, Moriondo M, Valleriani C, Lippi F, Ombrone D, Della Bona ML, Speckmann C, Borte S, Brodszki N, Gennery AR, Weinacht K, Celmeli F, Pagel J, de Martino M, Guerrini R, Wittkowski H, Santisteban I, Bali P, Ikinciogullari A, Hershfield M, Notarangelo LD, Resti M, Azzari C. Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots.J Allergy Clin Immunol. 2014 Jul;134(1):155-159.e3.
  17. Chou J, Lutskiy M, Tsitsikov E, Notarangelo LD, Geha RS, Dioun A. Presence of hypogammaglobulinemia and abnormal antibody responses in GATA2 deficiency. J Allergy Clin Immunol. 2014 Jul;134(1):223-6.
  18. Stray-Pedersen A, Jouanguy E, Crequer A, Bertuch AA, Brown BS, Jhangiani SN, Muzny DM, Gambin T, Sorte H, Sasa G, Metry D, Campbell J, Sockrider MM, Dishop MK, Scollard DM, Gibbs RA, Mace EM, Orange JS, Lupski JR, Casanova JL, Noroski LM. Compound Heterozygous CORO1A Mutations in Siblings with a Mucocutaneous-Immunodeficiency Syndrome of Epidermodysplasia Verruciformis-HPV, Molluscum Contagiosum and Granulomatous Tuberculoid Leprosy. J Clin Immunol. 2014 Jul 30.
  19. Lanternier F, Barbati E, Meinzer U, Liu L, Pedergnana V, Migaud M, Héritier S, Chomton M, Frémond ML, Gonzales E, Galeotti C, Romana S, Jacquemin E, Angoulvant A, Bidault V, Canioni D, Lachenaud J, Mansouri D, Mahdaviani SA, Adimi P, Mansouri N, Jamshidi M, Bougnoux ME, Abel L, Lortholary O, Blanche S, Casanova JL, Picard C, Puel A. Inherited CARD9 Deficiency in 2 Unrelated Patients With Invasive Exophiala Infection. J Infect Dis. 2014 Jul 23.
  20. Gaschignard J, Levy C, Chrabieh M, Boisson B, Bost-Bru C, Dauger S, Dubos F, Durand P, Gaudelus J, Gendrel D, Gras Le Guen C, Grimprel E, Guyon G, Jeudy C, Jeziorski E, Leclerc F, Léger PL, Lesage F, Lorrot M, Pellier I, Pinquier D, de Pontual L, Sachs P, Thomas C, Tissières P, Valla FV, Desprez P, Frémeaux-Bacchi V, Varon E, Bossuyt X, Cohen R, Abel L, Casanova JL, Puel A, Picard C. Invasive pneumococcal disease in children can reveal a primary immunodeficiency. Clin Infect Dis. 2014 Jul 15;59(2):244-51.
  21. Lanternier F, Barbati E, Meinzer U, Liu L, Pedergnana V, Migaud M, Héritier S, Chomton M, Frémond ML, Gonzales E, Galeotti C, Romana S, Jacquemin E, Angoulvant A, Bidault V, Canioni D, Lachenaud J, Mansouri D, Mahdaviani SA, Adimi P, Mansouri N, Jamshidi M, Bougnoux ME, Abel L, Lortholary O, Blanche S, Casanova JL, Picard C, Puel A. Inherited CARD9 Deficiency in 2 Unrelated Patients With Invasive Exophiala Infection. J Infect Dis. 2014 Jul 23.
  22. Stray-Pedersen A, Backe PH, Sorte HS, Mørkrid L, Chokshi NY, Erichsen HC, Gambin T, Elgstøen KB, Bjørås M, Wlodarski MW, Krüger M, Jhangiani SN, Muzny DM, Patel A, Raymond KM, Sasa GS, Krance RA, Martinez CA, Abraham SM, Speckmann C, Ehl S, Hall P, Forbes LR, Merckoll E, Westvik J, Nishimura G, Rustad CF, Abrahamsen TG, Rønnestad A, Osnes LT, Egeland T, Rødningen OK, Beck CR; Baylor-Johns Hopkins Center for Mendelian Genomics, Boerwinkle EA, Gibbs RA, Lupski JR, Orange JS, Lausch E, Hanson IC. PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.Am J Hum Genet. 2014 Jul 3;95(1):96-107.
  23. Kwan A, Abraham RS, Currier R, Brower A, Andruszewski K, Abbott JK, Baker M, Ballow M, Bartoshesky LE, Bonilla FA, Brokopp C, Brooks E, Caggana M, Celestin J, Church JA, Comeau AM, Connelly JA, Cowan MJ, Cunningham-Rundles C, Dasu T, Dave N, De La Morena MT, Duffner U, Fong CT, Forbes L, Freedenberg D, Gelfand EW, Hale JE, Hanson IC, Hay BN, Hu D, Infante A, Johnson D, Kapoor N, Kay DM, Kohn DB, Lee R, Lehman H, Lin Z, Lorey F, Abdel-Mageed A, Manning A, McGhee S, Moore TB, Naides SJ, Notarangelo LD, Orange JS, Pai SY, Porteus M, Rodriguez R, Romberg N, Routes J, Ruehle M, Rubenstein A, Saavedra-Matiz CA, Scott G, Scott PM, Secord E, Seroogy C, Shearer WT, Siegel S, Silvers SK, Stiehm ER, Sugerman RW, Sullivan JL, Tanksley S, Tierce ML 4th, Verbsky J, Vogel B, Walker R, Walkovich K, Walter JE, Wasserman RL, Watson MS, Weinberg GA, Weiner LB, Wood H, Yates AB, Puck JM. Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. JAMA. 2014 Aug 20;312(7):729-38.
  24. Dvorak CC, Hassan A, Slatter MA, Hönig M, Lankester AC, Buckley RH, Pulsipher MA, Davis JH, Güngör T, Gabriel M, Bleesing JH, Bunin N, Sedlacek P, Connelly JA, Crawford DF, Notarangelo LD, Pai SY, Hassid J, Veys P, Gennery AR, Cowan MJ. 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 Aug 7.
  25. Cobat A, Poirier C, Hoal E, Boland-Auge A, de La Rocque F, Corrard F, Grange G, Migaud M, Bustamante J, Boisson-Dupuis S, Casanova JL, Schurr E, Alcaïs A, Delacourt C, Abel L. Tuberculin skin test negativity is under tight genetic control of the chromosomal region 11p14-15 in settings of different TB endemicity. J Infect Dis. 2014 Aug 20.
  26. Martínez-Barricarte R, Megged O, Stepensky P, Casimir P, Moncada-Velez M, Averbuch D, Assous MV, Abuzaitoun O, Kong XF, Pedergnana V, Deswarte C, Migaud M, Rose-John S, Itan Y, Boisson B, Belkadi A, Conti F, Abel L, Vogt G, Boisson-Dupuis S, Casanova JL, Bustamante J. Mycobacterium simiae Infection in Two Unrelated Patients with Different Forms of Inherited IFN-γR2 Deficiency. J Clin Immunol. 2014 Aug 19.
  27. Salem S, Langlais D, Lefebvre F, Bourque G, Bigley V, Haniffa M, Casanova JL, Burk D, Berghuis A, Butler KM, Leahy TR, Hambleton S, Gros P. Functional characterization of the human dendritic cell immunodeficiency associated with the IRF8K108E mutation.Blood. 2014 Aug 13.
  28. Parvaneh N, Quartier P, Rostami P, Casanova JL, de Lonlay P. Inborn errors of metabolism underlying primary immunodeficiencies. J Clin Immunol. 2014 Aug 1.
  29. Crow YJ, Casanova JL. STING-associated vasculopathy with onset in infancy--a new interferonopathy. N Engl J Med. 2014 Aug 7;371(6):568-71.
  30. Wu L, Wang C, Boisson B, Misra S, Rayman P, Finke JH, Puel A, Casanova JL, Li X. The Differential Regulation of Human ACT1 Isoforms by Hsp90 in IL-17 Signaling. J Immunol. 2014 Aug 15;193(4):1590-9.
  31. Dvorak CC, Hassan A, Slatter MA, Hönig M, Lankester AC, Buckley RH, Pulsipher MA, Davis JH, Güngör T, Gabriel M, Bleesing JH, Bunin N, Sedlacek P, Connelly JA, Crawford DF, Notarangelo LD, Pai SY, Hassid J, Veys P, Gennery AR, Cowan MJ. 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 Aug 7.
  32. Gennery AR, Slatter MA. Chemotherapy-free conditioning: one step closer. Blood. 2014 Aug 7;124(6):838-40.
  33. 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 Jul 18.
  34. Turvey SE, Durandy A, Fischer A, Fung SY, Geha RS, Gewies A, Giese T, Greil J, Keller B, McKinnon ML, Neven B, Rozmus J, Ruland J, Snow AL, Stepensky P, Warnatz K. The CARD11-BCL10-MALT1 (CBM) signalosome complex: Stepping into the limelight of human primary immunodeficiency. J Allergy Clin Immunol. 2014 Aug;134(2):276-84.
  35. Günaydin NC, Chou J, Karaca NE, Aksu G, Massaad MJ, Azarsiz E, Ertan Y, Geha RS, Kütükçüler N. A novel disease-causing CD40L mutation reduces expression of CD40 ligand, but preserves CD40 binding capacity. Clin Immunol. 2014 Aug;153(2):288-91.
  36. Jing H, Zhang Q, Zhang Y, Hill BJ, Dove CG, Gelfand EW, Atkinson TP, Uzel G, Matthews HF, Mustillo PJ, Lewis DB, Kavadas FD, Hanson IC, Kumar AR, Geha RS, Douek DC, Holland SM, Freeman AF, Su HC. Somatic reversion in dedicator of cytokinesis 8 immunodeficiency modulates disease phenotype. J Allergy Clin Immunol. 2014 Jun;133(6):1667-75.
  37. Picard C, Fischer A. Contribution of high-throughput DNA sequencing to the study of primary immunodeficiencies. Eur J Immunol. 2014 Aug 22.
  38. Aguilar C, Lenoir C, Lambert N, Bègue B, Brousse N, Canioni D, Berrebi D, Roy M, Gérart S, Chapel H, Schwerd T, Siproudhis L, Schäppi M, Al-Ahmari A, Mori M, Yamaide A, Galicier L, Neven B, Routes J, Uhlig HH, Koletzko S, Patel S, Kanegane H, Picard C, Fischer A, Bensussan NC, Ruemmele F, Hugot JP, Latour S. Characterization of Crohn disease in X-linked inhibitor of apoptosis-deficient male patients and female symptomatic carriers.J Allergy Clin Immunol. 2014 Jun 15.

Login

Partners

 

Site Last Modified

  • Last Modified: Friday 20 June 2025, 23:14:17.

Visitors Counter

904106
TodayToday99
YesterdayYesterday176
This WeekThis Week1173
This MonthThis Month5049
All DaysAll Days904106

HONcode

This website is certified by Health On the Net Foundation. Click to verify. This site complies with the HONcode standard for trustworthy health information:
verify here.

Casablanca September A-Project

  Rwanda

  Cameroun

 Zambia

 Gabon

 Sudan

Program

 Benin

Go to top