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Gain-of-function IKZF1 variants in humans cause immune dysregulation associated with abnormal T/B cell late differentiation.
Hoshino A, Boutboul D, Zhang Y, Kuehn HS, Hadjadj J, Özdemir N, Celkan T, Walz C, Picard C, Lenoir C, Mahlaoui N, Klein C, Peng X, Azar A, Reigh E, Cheminant M, Fischer A, Rieux-Laucat F, Callebaut I, Hauck F, Milner J, Rosenzweig SD, Latour S. Hoshino A, et al. Among authors: hauck f. Sci Immunol. 2022 Mar 25;7(69):eabi7160. doi: 10.1126/sciimmunol.abi7160. Epub 2022 Mar 25. Sci Immunol. 2022. PMID: 35333544
Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency).
Pachlopnik Schmid J, Canioni D, Moshous D, Touzot F, Mahlaoui N, Hauck F, Kanegane H, Lopez-Granados E, Mejstrikova E, Pellier I, Galicier L, Galambrun C, Barlogis V, Bordigoni P, Fourmaintraux A, Hamidou M, Dabadie A, Le Deist F, Haerynck F, Ouachée-Chardin M, Rohrlich P, Stephan JL, Lenoir C, Rigaud S, Lambert N, Milili M, Schiff C, Chapel H, Picard C, de Saint Basile G, Blanche S, Fischer A, Latour S. Pachlopnik Schmid J, et al. Among authors: hauck f. Blood. 2011 Feb 3;117(5):1522-9. doi: 10.1182/blood-2010-07-298372. Epub 2010 Nov 30. Blood. 2011. PMID: 21119115 Free article.
Primary T-cell immunodeficiency with immunodysregulation caused by autosomal recessive LCK deficiency.
Hauck F, Randriamampita C, Martin E, Gerart S, Lambert N, Lim A, Soulier J, Maciorowski Z, Touzot F, Moshous D, Quartier P, Heritier S, Blanche S, Rieux-Laucat F, Brousse N, Callebaut I, Veillette A, Hivroz C, Fischer A, Latour S, Picard C. Hauck F, et al. J Allergy Clin Immunol. 2012 Nov;130(5):1144-1152.e11. doi: 10.1016/j.jaci.2012.07.029. Epub 2012 Sep 15. J Allergy Clin Immunol. 2012. PMID: 22985903
Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation.
Moshous D, Martin E, Carpentier W, Lim A, Callebaut I, Canioni D, Hauck F, Majewski J, Schwartzentruber J, Nitschke P, Sirvent N, Frange P, Picard C, Blanche S, Revy P, Fischer A, Latour S, Jabado N, de Villartay JP. Moshous D, et al. Among authors: hauck f. J Allergy Clin Immunol. 2013 Jun;131(6):1594-603. doi: 10.1016/j.jaci.2013.01.042. Epub 2013 Mar 21. J Allergy Clin Immunol. 2013. PMID: 23522482
Very early onset inflammatory bowel disease associated with aberrant trafficking of IL-10R1 and cure by T cell replete haploidentical bone marrow transplantation.
Murugan D, Albert MH, Langemeier J, Bohne J, Puchalka J, Järvinen PM, Hauck F, Klenk AK, Prell C, Schatz S, Diestelhorst J, Sciskala B, Kohistani N, Belohradsky BH, Müller S, Kirchner T, Walter MR, Bufler P, Muise AM, Snapper SB, Koletzko S, Klein C, Kotlarz D. Murugan D, et al. Among authors: hauck f. J Clin Immunol. 2014 Apr;34(3):331-9. doi: 10.1007/s10875-014-9992-8. Epub 2014 Feb 12. J Clin Immunol. 2014. PMID: 24519095
CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation.
Martin E, Palmic N, Sanquer S, Lenoir C, Hauck F, Mongellaz C, Fabrega S, Nitschké P, Esposti MD, Schwartzentruber J, Taylor N, Majewski J, Jabado N, Wynn RF, Picard C, Fischer A, Arkwright PD, Latour S. Martin E, et al. Among authors: hauck f. Nature. 2014 Jun 12;510(7504):288-92. doi: 10.1038/nature13386. Epub 2014 May 28. Nature. 2014. PMID: 24870241 Free PMC article.
SYK expression endows human ZAP70-deficient CD8 T cells with residual TCR signaling.
Hauck F, Blumenthal B, Fuchs S, Lenoir C, Martin E, Speckmann C, Vraetz T, Mannhardt-Laakmann W, Lambert N, Gil M, Borte S, Audrain M, Schwarz K, Lim A, Schamel WW, Fischer A, Ehl S, Rensing-Ehl A, Picard C, Latour S. Hauck F, et al. Clin Immunol. 2015 Dec;161(2):103-9. doi: 10.1016/j.clim.2015.07.002. Epub 2015 Jul 14. Clin Immunol. 2015. PMID: 26187144
261 results