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Page 1
Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome.
Béziat V, Tavernier SJ, Chen YH, Ma CS, Materna M, Laurence A, Staal J, Aschenbrenner D, Roels L, Worley L, Claes K, Gartner L, Kohn LA, De Bruyne M, Schmitz-Abe K, Charbonnier LM, Keles S, Nammour J, Vladikine N, Maglorius Renkilaraj MRL, Seeleuthner Y, Migaud M, Rosain J, Jeljeli M, Boisson B, Van Braeckel E, Rosenfeld JA, Dai H, Burrage LC, Murdock DR, Lambrecht BN, Avettand-Fenoel V, Vogel TP; Undiagnosed Diseases Network; Esther CR, Haskologlu S, Dogu F, Ciznar P, Boutboul D, Ouachée-Chardin M, Amourette J, Lebras MN, Gauvain C, Tcherakian C, Ikinciogullari A, Beyaert R, Abel L, Milner JD, Grimbacher B, Couderc LJ, Butte MJ, Freeman AF, Catherinot É, Fieschi C, Chatila TA, Tangye SG, Uhlig HH, Haerynck F, Casanova JL, Puel A. Béziat V, et al. J Exp Med. 2020 Jun 1;217(6):e20191804. doi: 10.1084/jem.20191804. J Exp Med. 2020. PMID: 32207811 Free PMC article.
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.
Mao D, Reuter CM, Ruzhnikov MRZ, Beck AE, Farrow EG, Emrick LT, Rosenfeld JA, Mackenzie KM, Robak L, Wheeler MT, Burrage LC, Jain M, Liu P, Calame D, Küry S, Sillesen M, Schmitz-Abe K, Tonduti D, Spaccini L, Iascone M, Genetti CA, Koenig MK, Graf M, Tran A, Alejandro M; Undiagnosed Diseases Network; Lee BH, Thiffault I, Agrawal PB, Bernstein JA, Bellen HJ, Chao HT. Mao D, et al. Am J Hum Genet. 2020 Apr 2;106(4):570-583. doi: 10.1016/j.ajhg.2020.02.016. Epub 2020 Mar 19. Am J Hum Genet. 2020. PMID: 32197074 Free PMC article.
Correction: Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome.
Béziat V, Tavernier SJ, Chen YH, Ma CS, Materna M, Laurence A, Staal J, Aschenbrenner D, Roels L, Worley L, Claes K, Gartner L, Kohn LA, De Bruyne M, Schmitz-Abe K, Charbonnier LM, Keles S, Nammour J, Vladikine N, Luxman Maglorius Renkilaraj MR, Seeleuthner Y, Migaud M, Rosain J, Jeljeli M, Boisson B, Van Braeckel E, Rosenfeld JA, Dai H, Burrage LC, Murdock DR, Lambrecht BN, Avettand-Fenoel V, Vogel TP, Network UD, Esther CR, Haskologlu S, Dogu F, Ciznar P, Boutboul D, Ouachée-Chardin M, Amourette J, Lebras MN, Gauvain C, Tcherakian C, Ikinciogullari A, Beyaert R, Abel L, Milner JD, Grimbacher B, Couderc LJ, Butte MJ, Freeman AF, Catherinot É, Fieschi C, Chatila TA, Tangye SG, Uhlig HH, Haerynck F, Casanova JL, Puel A. Béziat V, et al. J Exp Med. 2020 Jun 1;217(7):e2019180405272020c. doi: 10.1084/jem.2019180405272020c. J Exp Med. 2020. PMID: 32516385 Free PMC article. No abstract available.
A regulatory T cell Notch4-GDF15 axis licenses tissue inflammation in asthma.
Harb H, Stephen-Victor E, Crestani E, Benamar M, Massoud A, Cui Y, Charbonnier LM, Arbag S, Baris S, Cunnigham A, Leyva-Castillo JM, Geha RS, Mousavi AJ, Guennewig B, Schmitz-Abe K, Sioutas C, Phipatanakul W, Chatila TA. Harb H, et al. Nat Immunol. 2020 Nov;21(11):1359-1370. doi: 10.1038/s41590-020-0777-3. Epub 2020 Sep 14. Nat Immunol. 2020. PMID: 32929274 Free PMC article.
Author Correction: A regulatory T cell Notch4-GDF15 axis licenses tissue inflammation in asthma.
Harb H, Stephen-Victor E, Crestani E, Benamar M, Massoud A, Cui Y, Charbonnier LM, Arbag S, Baris S, Cunnigham A, Leyva-Castillo JM, Geha RS, Mousavi AJ, Guennewig B, Schmitz-Abe K, Sioutas C, Phipatanakul W, Chatila TA. Harb H, et al. Nat Immunol. 2021 Jan;22(1):100. doi: 10.1038/s41590-020-00841-w. Nat Immunol. 2021. PMID: 33214720 No abstract available.
Evolution and long-term outcomes of combined immunodeficiency due to CARMIL2 deficiency.
Kolukisa B, Baser D, Akcam B, Danielson J, Bilgic Eltan S, Haliloglu Y, Sefer AP, Babayeva R, Akgun G, Charbonnier LM, Schmitz-Abe K, Kendir Demirkol Y, Zhang Y, Gonzaga-Jauregui C, Jimenez Heredia R, Kasap N, Kiykim A, Ozek Yucel E, Gok V, Unal E, Pac Kisaarslan A, Nepesov S, Baysoy G, Onal Z, Yesil G, Celkan TT, Cokugras H, Camcioglu Y, Eken A, Boztug K, Lo B, Karakoc-Aydiner E, Su HC, Ozen A, Chatila TA, Baris S. Kolukisa B, et al. Allergy. 2022 Mar;77(3):1004-1019. doi: 10.1111/all.15010. Epub 2021 Jul 30. Allergy. 2022. PMID: 34287962 Free PMC article.
A Stk4-Foxp3-NF-κB p65 transcriptional complex promotes Treg cell activation and homeostasis.
Cui Y, Benamar M, Schmitz-Abe K, Poondi-Krishnan V, Chen Q, Jugder BE, Fatou B, Fong J, Zhong Y, Mehta S, Buyanbat A, Eklioglu BS, Karabiber E, Baris S, Kiykim A, Keles S, Stephen-Victor E, Angelini C, Charbonnier LM, Chatila TA. Cui Y, et al. Sci Immunol. 2022 Sep 23;7(75):eabl8357. doi: 10.1126/sciimmunol.abl8357. Epub 2022 Sep 23. Sci Immunol. 2022. PMID: 36149942 Free PMC article.
Severe allergic dysregulation due to a gain of function mutation in the transcription factor STAT6.
Baris S, Benamar M, Chen Q, Catak MC, Martínez-Blanco M, Wang M, Fong J, Massaad MJ, Sefer AP, Kara A, Babayeva R, Eltan SB, Yucelten AD, Bozkurtlar E, Cinel L, Karakoc-Aydiner E, Zheng Y, Wu H, Ozen A, Schmitz-Abe K, Chatila TA. Baris S, et al. Among authors: schmitz abe k. J Allergy Clin Immunol. 2023 Jul;152(1):182-194.e7. doi: 10.1016/j.jaci.2023.01.023. Epub 2023 Feb 8. J Allergy Clin Immunol. 2023. PMID: 36758835
54 results