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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: speckmann c. 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.
Tuberculosis-Associated HLH in an 8-Month-Old Infant: A Case Report and Review.
Hauch H, Skrzypek S, Woessmann W, Lehmberg K, Ehl S, Speckmann C, Schneck E, Koerholz D, Jux C, Neuhäuser C. Hauch H, et al. Among authors: speckmann c. Front Pediatr. 2020 Oct 30;8:556155. doi: 10.3389/fped.2020.556155. eCollection 2020. Front Pediatr. 2020. PMID: 33194891 Free PMC article.
Tandem mass spectrometry, but not T-cell receptor excision circle analysis, identifies newborns with late-onset adenosine deaminase deficiency.
la Marca G, Canessa C, Giocaliere E, Romano F, Duse M, Malvagia S, Lippi F, Funghini S, Bianchi L, Della Bona ML, Valleriani C, Ombrone D, Moriondo M, Villanelli F, Speckmann C, Adams S, Gaspar BH, Hershfield M, Santisteban I, Fairbanks L, Ragusa G, Resti M, de Martino M, Guerrini R, Azzari C. la Marca G, et al. Among authors: speckmann c. J Allergy Clin Immunol. 2013 Jun;131(6):1604-10. doi: 10.1016/j.jaci.2012.08.054. Epub 2012 Dec 30. J Allergy Clin Immunol. 2013. PMID: 23280131
Ulceration in Prolidase Deficiency: Successful Treatment with Anticoagulants.
Süßmuth K, Metze D, Muresan AM, Lehmberg K, Zur Stadt U, Speckmann C, Park JH, Marquardt T, Oji V, Goerge T. Süßmuth K, et al. Among authors: speckmann c. Acta Derm Venereol. 2020 Jan 7;100(1):adv00002. doi: 10.2340/00015555-3324. Acta Derm Venereol. 2020. PMID: 31573664 Free PMC article. No abstract available.
Preserved effector functions of human ORAI1- and STIM1-deficient neutrophils.
Elling R, Keller B, Weidinger C, Häffner M, Deshmukh SD, Zee I, Speckmann C, Ehl S, Schwarz K, Feske S, Henneke P. Elling R, et al. Among authors: speckmann c. J Allergy Clin Immunol. 2016 May;137(5):1587-1591.e7. doi: 10.1016/j.jaci.2015.09.047. Epub 2015 Dec 6. J Allergy Clin Immunol. 2016. PMID: 26670474 Free PMC article. No abstract available.
121 results