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Page 1
Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency.
Lévy R, Gothe F, Momenilandi M, Magg T, Materna M, Peters P, Raedler J, Philippot Q, Rack-Hoch AL, Langlais D, Bourgey M, Lanz AL, Ogishi M, Rosain J, Martin E, Latour S, Vladikine N, Distefano M, Khan T, Rapaport F, Schulz MS, Holzer U, Fasth A, Sogkas G, Speckmann C, Troilo A, Bigley V, Roppelt A, Dinur-Schejter Y, Toker O, Bronken Martinsen KH, Sherkat R, Somekh I, Somech R, Shouval DS, Kühl JS, Ip W, McDermott EM, Cliffe L, Ozen A, Baris S, Rangarajan HG, Jouanguy E, Puel A, Bustamante J, Alyanakian MA, Fusaro M, Wang Y, Kong XF, Cobat A, Boutboul D, Castelle M, Aguilar C, Hermine O, Cheminant M, Suarez F, Yildiran A, Bousfiha A, Al-Mousa H, Alsohime F, Cagdas D, Abraham RS, Knutsen AP, Fevang B, Bhattad S, Kiykim A, Erman B, Arikoglu T, Unal E, Kumar A, Geier CB, Baumann U, Neven B; CARMIL2 Consortium; Rohlfs M, Walz C, Abel L, Malissen B, Marr N, Klein C, Casanova JL, Hauck F, Béziat V. Lévy R, et al. Among authors: ip w. J Exp Med. 2023 Feb 6;220(2):e20220275. doi: 10.1084/jem.20220275. Epub 2022 Dec 14. J Exp Med. 2023. PMID: 36515678 Free PMC article.
Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2.
Klemann C, Camacho-Ordonez N, Yang L, Eskandarian Z, Rojas-Restrepo JL, Frede N, Bulashevska A, Heeg M, Al-Ddafari MS, Premm J, Seidl M, Ammann S, Sherkat R, Radhakrishnan N, Warnatz K, Unger S, Kobbe R, Hüfner A, Leahy TR, Ip W, Burns SO, Fliegauf M, Grimbacher B. Klemann C, et al. Among authors: ip w. Front Immunol. 2019 Mar 19;10:297. doi: 10.3389/fimmu.2019.00297. eCollection 2019. Front Immunol. 2019. PMID: 30941118 Free PMC article.
Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.
Lorenzini T, Fliegauf M, Klammer N, Frede N, Proietti M, Bulashevska A, Camacho-Ordonez N, Varjosalo M, Kinnunen M, de Vries E, van der Meer JWM, Ameratunga R, Roifman CM, Schejter YD, Kobbe R, Hautala T, Atschekzei F, Schmidt RE, Schröder C, Stepensky P, Shadur B, Pedroza LA, van der Flier M, Martínez-Gallo M, Gonzalez-Granado LI, Allende LM, Shcherbina A, Kuzmenko N, Zakharova V, Neves JF, Svec P, Fischer U, Ip W, Bartsch O, Barış S, Klein C, Geha R, Chou J, Alosaimi M, Weintraub L, Boztug K, Hirschmugl T, Dos Santos Vilela MM, Holzinger D, Seidl M, Lougaris V, Plebani A, Alsina L, Piquer-Gibert M, Deyà-Martínez A, Slade CA, Aghamohammadi A, Abolhassani H, Hammarström L, Kuismin O, Helminen M, Allen HL, Thaventhiran JE, Freeman AF, Cook M, Bakhtiar S, Christiansen M, Cunningham-Rundles C, Patel NC, Rae W, Niehues T, Brauer N, Syrjänen J, Seppänen MRJ, Burns SO, Tuijnenburg P, Kuijpers TW; NIHR BioResource; Warnatz K, Grimbacher B; NIHR BioResource. Lorenzini T, et al. Among authors: ip w. J Allergy Clin Immunol. 2020 Oct;146(4):901-911. doi: 10.1016/j.jaci.2019.11.051. Epub 2020 Apr 9. J Allergy Clin Immunol. 2020. PMID: 32278790 Free PMC article.
International retrospective study of allogeneic hematopoietic cell transplantation for activated PI3K-delta syndrome.
Dimitrova D, Nademi Z, Maccari ME, Ehl S, Uzel G, Tomoda T, Okano T, Imai K, Carpenter B, Ip W, Rao K, Worth AJJ, Laberko A, Mukhina A, Néven B, Moshous D, Speckmann C, Warnatz K, Wehr C, Abolhassani H, Aghamohammadi A, Bleesing JJ, Dara J, Dvorak CC, Ghosh S, Kang HJ, Markelj G, Modi A, Bayer DK, Notarangelo LD, Schulz A, Garcia-Prat M, Soler-Palacín P, Karakükcü M, Yilmaz E, Gambineri E, Menconi M, Masmas TN, Holm M, Bonfim C, Prando C, Hughes S, Jolles S, Morris EC, Kapoor N, Koltan S, Paneesha S, Steward C, Wynn R, Duffner U, Gennery AR, Lankester AC, Slatter M, Kanakry JA. Dimitrova D, et al. Among authors: ip w. J Allergy Clin Immunol. 2022 Jan;149(1):410-421.e7. doi: 10.1016/j.jaci.2021.04.036. Epub 2021 May 24. J Allergy Clin Immunol. 2022. PMID: 34033842 Free PMC article.
Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity.
Maccari ME, Wolkewitz M, Schwab C, Lorenzini T, Leiding JW, Aladjdi N, Abolhassani H, Abou-Chahla W, Aiuti A, Azarnoush S, Baris S, Barlogis V, Barzaghi F, Baumann U, Bloomfield M, Bohynikova N, Bodet D, Boutboul D, Bucciol G, Buckland MS, Burns SO, Cancrini C, Cathébras P, Cavazzana M, Cheminant M, Chinello M, Ciznar P, Coulter TI, D'Aveni M, Ekwall O, Eric Z, Eren E, Fasth A, Frange P, Fournier B, Garcia-Prat M, Gardembas M, Geier C, Ghosh S, Goda V, Hammarström L, Hauck F, Heeg M, Heropolitanska-Pliszka E, Hilfanova A, Jolles S, Karakoc-Aydiner E, Kindle GR, Kiykim A, Klemann C, Koletsi P, Koltan S, Kondratenko I, Körholz J, Krüger R, Jeziorski E, Levy R, Le Guenno G, Lefevre G, Lougaris V, Marzollo A, Mahlaoui N, Malphettes M, Meinhardt A, Merlin E, Meyts I, Milota T, Moreira F, Moshous D, Mukhina A, Neth O, Neubert J, Neven B, Nieters A, Nove-Josserand R, Oksenhendler E, Ozen A, Olbrich P, Perlat A, Pac M, Schmid JP, Pacillo L, Parra-Martinez A, Paschenko O, Pellier I, Sefer AP, Plebani A, Plantaz D, Prader S, Raffray L, Ritterbusch H, Riviere JG, Rivalta B, Rusch S, Sakovich I, Savic S, Scheible R, Schleinitz N, Schuetz C, Schulz A, Sediva A, Semeraro M, Sharapova SO, Shcher… See abstract for full author list ➔ Maccari ME, et al. Among authors: ip w. J Allergy Clin Immunol. 2023 Oct;152(4):984-996.e10. doi: 10.1016/j.jaci.2023.06.015. Epub 2023 Jun 28. J Allergy Clin Immunol. 2023. PMID: 37390899
Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients.
Geier CB, Ellison M, Cruz R, Pawar S, Leiss-Piller A, Zmajkovicova K, McNulty SM, Yilmaz M, Evans MO 2nd, Gordon S, Ujhazi B, Wiest I, Abolhassani H, Aghamohammadi A, Barmettler S, Bhar S, Bondarenko A, Bolyard AA, Buchbinder D, Cada M, Cavieres M, Connelly JA, Dale DC, Deordieva E, Dorsey MJ, Drysdale SB, Ehl S, Elfeky R, Fioredda F, Firkin F, Förster-Waldl E, Geng B, Goda V, Gonzalez-Granado L, Grunebaum E, Grzesk E, Henrickson SE, Hilfanova A, Hiwatari M, Imai C, Ip W, Jyonouchi S, Kanegane H, Kawahara Y, Khojah AM, Kim VH, Kojić M, Kołtan S, Krivan G, Langguth D, Lau YL, Leung D, Miano M, Mersyanova I, Mousallem T, Muskat M, Naoum FA, Noronha SA, Ouederni M, Ozono S, Richmond GW, Sakovich I, Salzer U, Schuetz C, Seeborg FO, Sharapova SO, Sockel K, Volokha A, von Bonin M, Warnatz K, Wegehaupt O, Weinberg GA, Wong KJ, Worth A, Yu H, Zharankova Y, Zhao X, Devlin L, Badarau A, Csomos K, Keszei M, Pereira J, Taveras AG, Beaussant-Cohen SL, Ong MS, Shcherbina A, Walter JE. Geier CB, et al. Among authors: ip w. J Clin Immunol. 2022 Nov;42(8):1748-1765. doi: 10.1007/s10875-022-01312-7. Epub 2022 Aug 10. J Clin Immunol. 2022. PMID: 35947323 Free PMC article.
B cell-intrinsic requirement for STK4 in humoral immunity in mice and human subjects.
Moran I, Avery DT, Payne K, Lenthall H, Davies EG, Burns S, Ip W, Oleastro MM, Reisli I, Guner S, Keles S, Notarangelo L, Deenick EK, Goodnow CC, Zahra D, Brink R; CIRCA; Wong M, Tangye SG, Ma CS, Phan TG. Moran I, et al. Among authors: ip w. J Allergy Clin Immunol. 2019 Jun;143(6):2302-2305. doi: 10.1016/j.jaci.2019.02.010. Epub 2019 Feb 20. J Allergy Clin Immunol. 2019. PMID: 30796983 No abstract available.
444 results