1 - 25 of 34 results for author:"Puel A." in Literature citations
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| Experimental and natural infections in MyD88- and IRAK-4-deficient mice and humans. von Bernuth H., Picard C., Puel A., Casanova J.L. Eur. J. Immunol. 42:3126-3135(2012) · Mapped (18) |
| Mycobacterial disease and impaired IFN-gamma immunity in humans with inherited ISG15 deficiency. Bogunovic D., Byun M., Durfee L.A., Abhyankar A., Sanal O., Mansouri D., Salem S., Radovanovic I., Grant A.V., Adimi P. et al. Science 337:1684-1688(2012) · Mapped (3) |
| Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey. Chandesris M.O., Melki I., Natividad A., Puel A., Fieschi C., Yun L., Thumerelle C., Oksenhendler E., Boutboul D., Thomas C. et al. Medicine (Baltimore) 91:e1-19(2012) · Mapped (7) |
| A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant. Bolze A., Abhyankar A., Grant A.V., Patel B., Yadav R., Byun M., Caillez D., Emile J.F., Pastor-Anglada M., Abel L. et al. PLoS ONE 7:e29708-e29708(2012) · Mapped (1) |
| Herpes simplex encephalitis in children with autosomal recessive and dominant TRIF deficiency. Sancho-Shimizu V., Perez de Diego R., Lorenzo L., Halwani R., Alangari A., Israelsson E., Fabrega S., Cardon A., Maluenda J., Tatematsu M. et al. J. Clin. Invest. 121:4889-4902(2011) · UniProtKB (1) |
| Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis. Marrakchi S., Guigue P., Renshaw B.R., Puel A., Pei X.Y., Fraitag S., Zribi J., Bal E., Cluzeau C., Chrabieh M. et al. N. Engl. J. Med. 365:620-628(2011) · UniProtKB (1) · Mapped (2) |
| Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. Liu L., Okada S., Kong X.F., Kreins A.Y., Cypowyj S., Abhyankar A., Toubiana J., Itan Y., Audry M., Nitschke P. et al. J. Exp. Med. 208:1635-1648(2011) · UniProtKB (1) · Mapped (3) |
| NEMO is a key component of NF-kappaB- and IRF-3-dependent TLR3-mediated immunity to herpes simplex virus. Audry M., Ciancanelli M., Yang K., Cobat A., Chang H.H., Sancho-Shimizu V., Lorenzo L., Niehues T., Reichenbach J., Li X.X. et al. J. Allergy Clin. Immunol. 128:610-7.e1-4(2011) · Mapped (12) |
| New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein. Hubeau M., Ngadjeua F., Puel A., Israel L., Feinberg J., Chrabieh M., Belani K., Bodemer C., Fabre I., Plebani A. et al. Blood 118:926-935(2011) · Mapped (3) |
| Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity. Puel A., Cypowyj S., Bustamante J., Wright J.F., Liu L., Lim H.K., Migaud M., Israel L., Chrabieh M., Audry M. et al. Science 332:65-68(2011) · UniProtKB (4) |
| Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease. Bustamante J., Arias A.A., Vogt G., Picard C., Galicia L.B., Prando C., Grant A.V., Marchal C.C., Hubeau M., Chapgier A. et al. |
| Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature. Briggs T.A., Rice G.I., Daly S., Urquhart J., Gornall H., Bader-Meunier B., Baskar K., Baskar S., Baudouin V., Beresford M.W. et al. Nat. Genet. 43:127-131(2011) · UniProtKB (1) |
| Whole-exome-sequencing-based discovery of human FADD deficiency. Bolze A., Byun M., McDonald D., Morgan N.V., Abhyankar A., Premkumar L., Puel A., Bacon C.M., Rieux-Laucat F., Pang K. et al. Am. J. Hum. Genet. 87:873-881(2010) · UniProtKB (2) · Mapped (2) |
| Human TRAF3 adaptor molecule deficiency leads to impaired Toll-like receptor 3 response and susceptibility to herpes simplex encephalitis. Perez de Diego R., Sancho-Shimizu V., Lorenzo L., Puel A., Plancoulaine S., Picard C., Herman M., Cardon A., Durandy A., Bustamante J. et al. |
| Human CD14dim monocytes patrol and sense nucleic acids and viruses via TLR7 and TLR8 receptors. Cros J., Cagnard N., Woollard K., Patey N., Zhang S.Y., Senechal B., Puel A., Biswas S.K., Moshous D., Picard C. et al. Immunity 33:375-386(2010) · Mapped (2) |
| The transmembrane activator TACI triggers immunoglobulin class switching by activating B cells through the adaptor MyD88. He B., Santamaria R., Xu W., Cols M., Chen K., Puga I., Shan M., Xiong H., Bussel J.B., Chiu A. et al. Nat. Immunol. 11:836-845(2010) · Mapped (27) |
| IRAK-4- and MyD88-dependent pathways are essential for the removal of developing autoreactive B cells in humans. Isnardi I., Ng Y.S., Srdanovic I., Motaghedi R., Rudchenko S., von Bernuth H., Zhang S.Y., Puel A., Jouanguy E., Picard C. et al. |
| Pyogenic bacterial infections in humans with MyD88 deficiency. von Bernuth H., Picard C., Jin Z., Pankla R., Xiao H., Ku C.-L., Chrabieh M., Mustapha I.B., Ghandil P., Camcioglu Y. et al. |
| Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells. de Beaucoudrey L., Puel A., Filipe-Santos O., Cobat A., Ghandil P., Chrabieh M., Feinberg J., von Bernuth H., Samarina A., Janniere L. et al. J. Exp. Med. 205:1543-1550(2008) · Mapped (11) |
| Inherited human IRAK-4 deficiency: an update. Picard C., von Bernuth H., Ku C.L., Yang K., Puel A., Casanova J.L. Immunol. Res. 38:347-352(2007) · Mapped (6) |
| Selective predisposition to bacterial infections in IRAK-4-deficient children: IRAK-4-dependent TLRs are otherwise redundant in protective immunity. Ku C.L., von Bernuth H., Picard C., Zhang S.Y., Chang H.H., Yang K., Chrabieh M., Issekutz A.C., Cunningham C.K., Gallin J. et al. J. Exp. Med. 204:2407-2422(2007) · Mapped (6) |
| TLR3 deficiency in patients with herpes simplex encephalitis. Zhang S.-Y., Jouanguy E., Ugolini S., Smahi A., Elain G., Romero P., Segal D., Sancho-Shimizu V., Lorenzo L., Puel A. et al. |
| Familial NK cell deficiency associated with impaired IL-2- and IL-15-dependent survival of lymphocytes. Eidenschenk C., Jouanguy E., Alcais A., Mention J.J., Pasquier B., Fleckenstein I.M., Puel A., Gineau L., Carel J.C., Vivier E. et al. J. Immunol. 177:8835-8843(2006) · Mapped (12) |
| Herpes simplex virus encephalitis in human UNC-93B deficiency. Casrouge A., Zhang S.-Y., Eidenschenk C., Jouanguy E., Puel A., Yang K., Alcais A., Picard C., Mahfoufi N., Nicolas N. et al. |
| IRAK4 and NEMO mutations in otherwise healthy children with recurrent invasive pneumococcal disease. Ku C.-L., Picard C., Erdos M., Jeurissen A., Bustamante J., Puel A., von Bernuth H., Filipe-Santos O., Chang H.-H., Lawrence T. et al. J. Med. Genet. 44:16-23(2007) · UniProtKB (2) |