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Page 1
TTC7A mutations disrupt intestinal epithelial apicobasal polarity.
Bigorgne AE, Farin HF, Lemoine R, Mahlaoui N, Lambert N, Gil M, Schulz A, Philippet P, Schlesser P, Abrahamsen TG, Oymar K, Davies EG, Ellingsen CL, Leteurtre E, Moreau-Massart B, Berrebi D, Bole-Feysot C, Nischke P, Brousse N, Fischer A, Clevers H, de Saint Basile G. Bigorgne AE, et al. Among authors: lambert n. J Clin Invest. 2014 Jan;124(1):328-37. doi: 10.1172/JCI71471. J Clin Invest. 2014. PMID: 24292712 Free PMC article.
Chronic Intestinal Pseudo-Obstruction and Lymphoproliferative Syndrome as a Novel Phenotype Associated With Tetratricopeptide Repeat Domain 7A Deficiency.
El-Daher MT, Lemale J, Bruneau J, Leveau C, Guerin F, Lambert N, Diana JS, Neven B, Sepulveda FE, Coulomb-L'Hermine A, Molina T, Picard C, Fischer A, de Saint Basile G. El-Daher MT, et al. Among authors: lambert n. Front Immunol. 2019 Nov 7;10:2592. doi: 10.3389/fimmu.2019.02592. eCollection 2019. Front Immunol. 2019. PMID: 31787977 Free PMC article.
X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene.
Lagresle-Peyrou C, Luce S, Ouchani F, Soheili TS, Sadek H, Chouteau M, Durand A, Pic I, Majewski J, Brouzes C, Lambert N, Bohineust A, Verhoeyen E, Cosset FL, Magerus-Chatinet A, Rieux-Laucat F, Gandemer V, Monnier D, Heijmans C, van Gijn M, Dalm VA, Mahlaoui N, Stephan JL, Picard C, Durandy A, Kracker S, Hivroz C, Jabado N, de Saint Basile G, Fischer A, Cavazzana M, André-Schmutz I. Lagresle-Peyrou C, et al. Among authors: lambert n. J Allergy Clin Immunol. 2016 Dec;138(6):1681-1689.e8. doi: 10.1016/j.jaci.2016.04.032. Epub 2016 Jun 4. J Allergy Clin Immunol. 2016. PMID: 27405666
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. Among authors: lambert n. 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
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. Among authors: lambert n. 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
An in vivo genetic reversion highlights the crucial role of Myb-Like, SWIRM, and MPN domains 1 (MYSM1) in human hematopoiesis and lymphocyte differentiation.
Le Guen T, Touzot F, André-Schmutz I, Lagresle-Peyrou C, France B, Kermasson L, Lambert N, Picard C, Nitschke P, Carpentier W, Bole-Feysot C, Lim A, Cavazzana M, Callebaut I, Soulier J, Jabado N, Fischer A, de Villartay JP, Revy P. Le Guen T, et al. Among authors: lambert n. J Allergy Clin Immunol. 2015 Dec;136(6):1619-1626.e5. doi: 10.1016/j.jaci.2015.06.008. Epub 2015 Jul 26. J Allergy Clin Immunol. 2015. PMID: 26220525
XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome.
Rigaud S, Fondanèche MC, Lambert N, Pasquier B, Mateo V, Soulas P, Galicier L, Le Deist F, Rieux-Laucat F, Revy P, Fischer A, de Saint Basile G, Latour S. Rigaud S, et al. Among authors: lambert n. Nature. 2006 Nov 2;444(7115):110-4. doi: 10.1038/nature05257. Nature. 2006. PMID: 17080092
Characterization of Crohn disease in X-linked inhibitor of apoptosis-deficient male patients and female symptomatic carriers.
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. Aguilar C, et al. Among authors: lambert n. J Allergy Clin Immunol. 2014 Nov;134(5):1131-41.e9. doi: 10.1016/j.jaci.2014.04.031. Epub 2014 Jun 15. J Allergy Clin Immunol. 2014. PMID: 24942515 Clinical Trial.
560 results