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AUTOIMMUNE DISEASE. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy.
Lo B, Zhang K, Lu W, Zheng L, Zhang Q, Kanellopoulou C, Zhang Y, Liu Z, Fritz JM, Marsh R, Husami A, Kissell D, Nortman S, Chaturvedi V, Haines H, Young LR, Mo J, Filipovich AH, Bleesing JJ, Mustillo P, Stephens M, Rueda CM, Chougnet CA, Hoebe K, McElwee J, Hughes JD, Karakoc-Aydiner E, Matthews HF, Price S, Su HC, Rao VK, Lenardo MJ, Jordan MB. Lo B, et al. Science. 2015 Jul 24;349(6246):436-40. doi: 10.1126/science.aaa1663. Science. 2015. PMID: 26206937
Food immunotherapy practice: Nation differences across Europe, the FIND project.
Rodríguez Del Río P, Alvarez-Perea A, Blumchen K, Caimmi D, Caubet JC, Konstantinopoulos AP, Riggioni C, Fassio F, Karakoc-Aydiner E, Le TM, Patel N, Savolainen J, Vazquez-Ortiz M, Alvaro Lozano M. Rodríguez Del Río P, et al. Allergy. 2022 Mar;77(3):920-932. doi: 10.1111/all.15016. Epub 2021 Aug 3. Allergy. 2022. PMID: 34289131
Socialization During the COVID-19 Pandemic: The Role of Social and Scientific Networks During Social Distancing.
Momtazmanesh S, Samieefar N, Uddin LQ, Ulrichs T, Kelishadi R, Roudenok V, Karakoc-Aydiner E, Salunke DB, Nouwen JL, Becerra JCA, Vieira DN, Goudouris E, Jamee M, Khafaie MA, Shamsizadeh M, Golabchi MR, Samimiat A, Doostkamel D, Afshar A, Tabari MAK, Lotfi M, Boroujeni RY, Rambod N, Stashchak A, Volokha A, Pavalkis D, Pereira A, Latiff AHA, Baylarov R, Amirheidari B, Ch MH, Condino-Neto A, Rezaei N. Momtazmanesh S, et al. Adv Exp Med Biol. 2021;1318:911-921. doi: 10.1007/978-3-030-63761-3_51. Adv Exp Med Biol. 2021. PMID: 33973219
Osteoporosis: an ignored complication of CVID.
Baris S, Ozen A, Ercan H, Karakoc-Aydiner E, Cagan H, Ozdemir C, Barlan M, Bahceciler NN, Barlan IB. Baris S, et al. Pediatr Allergy Immunol. 2011 Nov;22(7):676-83. doi: 10.1111/j.1399-3038.2011.01187.x. Epub 2011 Jun 6. Pediatr Allergy Immunol. 2011. PMID: 21645119
G6PC3 Deficiency: Primary Immune Deficiency Beyond Just Neutropenia.
Kiykim A, Baris S, Karakoc-Aydiner E, Ozen AO, Ogulur I, Bozkurt S, Ataizi CC, Boztug K, Barlan IB. Kiykim A, et al. J Pediatr Hematol Oncol. 2015 Nov;37(8):616-22. doi: 10.1097/MPH.0000000000000441. J Pediatr Hematol Oncol. 2015. PMID: 26479985
Use of subcutaneous immunoglobulin in primary immune deficiencies.
Karakoç Aydıner E, Kıykım A, Barış S, Özen A, Barlan I. Karakoç Aydıner E, et al. Turk Pediatri Ars. 2016 Mar 1;51(1):8-14. doi: 10.5152/TurkPediatriArs.2016.3058. eCollection 2016 Mar. Turk Pediatri Ars. 2016. PMID: 27103859 Free PMC article.
House Dust Mites Confer a Distinct Immunological Feature among Dermatitis.
Baris S, Ozen A, Akdeniz T, Karakoc-Aydiner E, Aydin O, Ercan H, Ogulur I, Camcioglu Y, Cengizlier R, Demirkesen C, Yucelten D, Demirel G, Barlan IB. Baris S, et al. Iran J Allergy Asthma Immunol. 2016 Aug;15(4):264-274. Iran J Allergy Asthma Immunol. 2016. PMID: 27921406 Free article. Clinical Trial.
Haploidentical Related Donor Hematopoietic Stem Cell Transplantation for Dedicator-of-Cytokinesis 8 Deficiency Using Post-Transplantation Cyclophosphamide.
Shah NN, Freeman AF, Su H, Cole K, Parta M, Moutsopoulos NM, Baris S, Karakoc-Aydiner E, Hughes TE, Kong HH, Holland SM, Hickstein DD. Shah NN, et al. Biol Blood Marrow Transplant. 2017 Jun;23(6):980-990. doi: 10.1016/j.bbmt.2017.03.016. Epub 2017 Mar 10. Biol Blood Marrow Transplant. 2017. PMID: 28288951 Free PMC article.
CD55 Deficiency, Early-Onset Protein-Losing Enteropathy, and Thrombosis.
Ozen A, Comrie WA, Ardy RC, Domínguez Conde C, Dalgic B, Beser ÖF, Morawski AR, Karakoc-Aydiner E, Tutar E, Baris S, Ozcay F, Serwas NK, Zhang Y, Matthews HF, Pittaluga S, Folio LR, Unlusoy Aksu A, McElwee JJ, Krolo A, Kiykim A, Baris Z, Gulsan M, Ogulur I, Snapper SB, Houwen RHJ, Leavis HL, Ertem D, Kain R, Sari S, Erkan T, Su HC, Boztug K, Lenardo MJ. Ozen A, et al. N Engl J Med. 2017 Jul 6;377(1):52-61. doi: 10.1056/NEJMoa1615887. Epub 2017 Jun 28. N Engl J Med. 2017. PMID: 28657829 Free PMC article.
Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea.
Petersen BS, August D, Abt R, Alddafari M, Atarod L, Baris S, Bhavsar H, Brinkert F, Buchta M, Bulashevska A, Chee R, Cordeiro AI, Dara N, Dückers G, Elmarsafy A, Frede N, Galal N, Gerner P, Glocker EO, Goldacker S, Hammermann J, Hasselblatt P, Havlicekova Z, Hübscher K, Jesenak M, Karaca NE, Karakoc-Aydiner E, Kharaghani MM, Kilic SS, Kiykim A, Klein C, Klemann C, Kobbe R, Kotlarz D, Laass MW, Leahy TR, Mesdaghi M, Mitton S, Neves JF, Öztürk B, Pereira LF, Rohr J, Restrepo JLR, Ruzaike G, Saleh N, Seneviratne S, Senol E, Speckmann C, Tegtmeyer D, Thankam P, van der Werff Ten Bosch J, von Bernuth H, Zeissig S, Zeissig Y, Franke A, Grimbacher B. Petersen BS, et al. Inflamm Bowel Dis. 2017 Dec;23(12):2109-2120. doi: 10.1097/MIB.0000000000001235. Inflamm Bowel Dis. 2017. PMID: 28930861
Patients with Primary Immunodeficiencies Are a Reservoir of Poliovirus and a Risk to Polio Eradication.
Aghamohammadi A, Abolhassani H, Kutukculer N, Wassilak SG, Pallansch MA, Kluglein S, Quinn J, Sutter RW, Wang X, Sanal O, Latysheva T, Ikinciogullari A, Bernatowska E, Tuzankina IA, Costa-Carvalho BT, Franco JL, Somech R, Karakoc-Aydiner E, Singh S, Bezrodnik L, Espinosa-Rosales FJ, Shcherbina A, Lau YL, Nonoyama S, Modell F, Modell V; JMF Centers Network Investigators and Study Collaborators; Barbouche MR, McKinlay MA. Aghamohammadi A, et al. Front Immunol. 2017 Jun 13;8:685. doi: 10.3389/fimmu.2017.00685. eCollection 2017. Front Immunol. 2017. PMID: 28952612 Free PMC article.
Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study.
Barzaghi F, Amaya Hernandez LC, Neven B, Ricci S, Kucuk ZY, Bleesing JJ, Nademi Z, Slatter MA, Ulloa ER, Shcherbina A, Roppelt A, Worth A, Silva J, Aiuti A, Murguia-Favela L, Speckmann C, Carneiro-Sampaio M, Fernandes JF, Baris S, Ozen A, Karakoc-Aydiner E, Kiykim A, Schulz A, Steinmann S, Notarangelo LD, Gambineri E, Lionetti P, Shearer WT, Forbes LR, Martinez C, Moshous D, Blanche S, Fisher A, Ruemmele FM, Tissandier C, Ouachee-Chardin M, Rieux-Laucat F, Cavazzana M, Qasim W, Lucarelli B, Albert MH, Kobayashi I, Alonso L, Diaz De Heredia C, Kanegane H, Lawitschka A, Seo JJ, Gonzalez-Vicent M, Diaz MA, Goyal RK, Sauer MG, Yesilipek A, Kim M, Yilmaz-Demirdag Y, Bhatia M, Khlevner J, Richmond Padilla EJ, Martino S, Montin D, Neth O, Molinos-Quintana A, Valverde-Fernandez J, Broides A, Pinsk V, Ballauf A, Haerynck F, Bordon V, Dhooge C, Garcia-Lloret ML, Bredius RG, Kałwak K, Haddad E, Seidel MG, Duckers G, Pai SY, Dvorak CC, Ehl S, Locatelli F, Goldman F, Gennery AR, Cowan MJ, Roncarolo MG, Bacchetta R; Primary Immune Deficiency Treatment Consortium (PIDTC) and the Inborn Errors Working Party (IEWP) of the European Society for Blood and Marrow Transplantation (EBMT). Barzaghi F, et al. J Allergy Clin Immunol. 2018 Mar;141(3):1036-1049.e5. doi: 10.1016/j.jaci.2017.10.041. Epub 2017 Dec 11. J Allergy Clin Immunol. 2018. PMID: 29241729 Free PMC article. Clinical Trial.
Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry.
Maccari ME, Abolhassani H, Aghamohammadi A, Aiuti A, Aleinikova O, Bangs C, Baris S, Barzaghi F, Baxendale H, Buckland M, Burns SO, Cancrini C, Cant A, Cathébras P, Cavazzana M, Chandra A, Conti F, Coulter T, Devlin LA, Edgar JDM, Faust S, Fischer A, Garcia-Prat M, Hammarström L, Heeg M, Jolles S, Karakoc-Aydiner E, Kindle G, Kiykim A, Kumararatne D, Grimbacher B, Longhurst H, Mahlaoui N, Milota T, Moreira F, Moshous D, Mukhina A, Neth O, Neven B, Nieters A, Olbrich P, Ozen A, Pachlopnik Schmid J, Picard C, Prader S, Rae W, Reichenbach J, Rusch S, Savic S, Scarselli A, Scheible R, Sediva A, Sharapova SO, Shcherbina A, Slatter M, Soler-Palacin P, Stanislas A, Suarez F, Tucci F, Uhlmann A, van Montfrans J, Warnatz K, Williams AP, Wood P, Kracker S, Condliffe AM, Ehl S. Maccari ME, et al. Front Immunol. 2018 Mar 16;9:543. doi: 10.3389/fimmu.2018.00543. eCollection 2018. Front Immunol. 2018. PMID: 29599784 Free PMC article.
Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency.
Farmer JR, Foldvari Z, Ujhazi B, De Ravin SS, Chen K, Bleesing JJH, Schuetz C, Al-Herz W, Abraham RS, Joshi AY, Costa-Carvalho BT, Buchbinder D, Booth C, Reiff A, Ferguson PJ, Aghamohammadi A, Abolhassani H, Puck JM, Adeli M, Cancrini C, Palma P, Bertaina A, Locatelli F, Di Matteo G, Geha RS, Kanariou MG, Lycopoulou L, Tzanoudaki M, Sleasman JW, Parikh S, Pinero G, Fischer BM, Dbaibo G, Unal E, Patiroglu T, Karakukcu M, Al-Saad KK, Dilley MA, Pai SY, Dutmer CM, Gelfand EW, Geier CB, Eibl MM, Wolf HM, Henderson LA, Hazen MM, Bonfim C, Wolska-Kuśnierz B, Butte MJ, Hernandez JD, Nicholas SK, Stepensky P, Chandrakasan S, Miano M, Westermann-Clark E, Goda V, Kriván G, Holland SM, Fadugba O, Henrickson SE, Ozen A, Karakoc-Aydiner E, Baris S, Kiykim A, Bredius R, Hoeger B, Boztug K, Pashchenko O, Neven B, Moshous D, Villartay JP, Bousfiha AA, Hill HR, Notarangelo LD, Walter JE. Farmer JR, et al. J Allergy Clin Immunol Pract. 2019 Jul-Aug;7(6):1970-1985.e4. doi: 10.1016/j.jaip.2019.02.038. Epub 2019 Mar 12. J Allergy Clin Immunol Pract. 2019. PMID: 30877075 Free PMC article.
Abatacept as a Long-Term Targeted Therapy for LRBA Deficiency.
Kiykim A, Ogulur I, Dursun E, Charbonnier LM, Nain E, Cekic S, Dogruel D, Karaca NE, Cogurlu MT, Bilir OA, Cansever M, Kapakli H, Baser D, Kasap N, Kutlug S, Altintas DU, Al-Shaibi A, Agrebi N, Kara M, Guven A, Somer A, Aydogmus C, Ayaz NA, Metin A, Aydogan M, Uncuoglu A, Patiroglu T, Yildiran A, Guner SN, Keles S, Reisli I, Aksu G, Kutukculer N, Kilic SS, Yilmaz M, Karakoc-Aydiner E, Lo B, Ozen A, Chatila TA, Baris S. Kiykim A, et al. J Allergy Clin Immunol Pract. 2019 Nov-Dec;7(8):2790-2800.e15. doi: 10.1016/j.jaip.2019.06.011. Epub 2019 Jun 22. J Allergy Clin Immunol Pract. 2019. PMID: 31238161 Free PMC article. Clinical Trial.
Polymerase δ deficiency causes syndromic immunodeficiency with replicative stress.
Conde CD, Petronczki ÖY, Baris S, Willmann KL, Girardi E, Salzer E, Weitzer S, Ardy RC, Krolo A, Ijspeert H, Kiykim A, Karakoc-Aydiner E, Förster-Waldl E, Kager L, Pickl WF, Superti-Furga G, Martínez J, Loizou JI, Ozen A, van der Burg M, Boztug K. Conde CD, et al. J Clin Invest. 2019 Oct 1;129(10):4194-4206. doi: 10.1172/JCI128903. J Clin Invest. 2019. PMID: 31449058 Free PMC article.
ILC3 deficiency and generalized ILC abnormalities in DOCK8-deficient patients.
Eken A, Cansever M, Okus FZ, Erdem S, Nain E, Azizoglu ZB, Haliloglu Y, Karakukcu M, Ozcan A, Devecioglu O, Aksu G, Arikan Ayyildiz Z, Topal E, Karakoc Aydiner E, Kiykim A, Metin A, Cipe F, Kaya A, Artac H, Reisli I, Guner SN, Uygun V, Karasu G, Dönmez Altuntas H, Canatan H, Oukka M, Ozen A, Chatila TA, Keles S, Baris S, Unal E, Patiroglu T. Eken A, et al. Allergy. 2020 Apr;75(4):921-932. doi: 10.1111/all.14081. Epub 2019 Oct 31. Allergy. 2020. PMID: 31596517 Free PMC article.
Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency.
Ghosh S, Köstel Bal S, Edwards ESJ, Pillay B, Jiménez Heredia R, Erol Cipe F, Rao G, Salzer E, Zoghi S, Abolhassani H, Momen T, Gostick E, Price DA, Zhang Y, Oler AJ, Gonzaga-Jauregui C, Erman B, Metin A, Ilhan I, Haskologlu S, Islamoglu C, Baskin K, Ceylaner S, Yilmaz E, Unal E, Karakukcu M, Berghuis D, Cole T, Gupta AK, Hauck F, Kogler H, Hoepelman AIM, Baris S, Karakoc-Aydiner E, Ozen A, Kager L, Holzinger D, Paulussen M, Krüger R, Meisel R, Oommen PT, Morris E, Neven B, Worth A, van Montfrans J, Fraaij PLA, Choo S, Dogu F, Davies EG, Burns S, Dückers G, Becker RP, von Bernuth H, Latour S, Faraci M, Gattorno M, Su HC, Pan-Hammarström Q, Hammarström L, Lenardo MJ, Ma CS, Niehues T, Aghamohammadi A, Rezaei N, Ikinciogullari A, Tangye SG, Lankester AC, Boztug K. Ghosh S, et al. Blood. 2020 Dec 3;136(23):2638-2655. doi: 10.1182/blood.2020006738. Blood. 2020. PMID: 32603431 Free PMC article. Clinical Trial.
Diagnostic Modalities Based on Flow Cytometry for Chronic Granulomatous Disease: A Multicenter Study in a Well-Defined Cohort.
Baris HE, Ogulur I, Akcam B, Kiykim A, Karagoz D, Saraymen B, Akgun G, Eltan SB, Aydemir S, Akidagi Z, Bentli E, Nain E, Kasap N, Baser D, Altintas DU, Camcioglu Y, Yesil G, Ozen A, Koker MY, Karakoc-Aydiner E, Baris S. Baris HE, et al. J Allergy Clin Immunol Pract. 2020 Nov-Dec;8(10):3525-3534.e1. doi: 10.1016/j.jaip.2020.07.030. Epub 2020 Jul 28. J Allergy Clin Immunol Pract. 2020. PMID: 32736065
Coronavirus disease 2019 in patients with inborn errors of immunity: An international study.
Meyts I, Bucciol G, Quinti I, Neven B, Fischer A, Seoane E, Lopez-Granados E, Gianelli C, Robles-Marhuenda A, Jeandel PY, Paillard C, Sankaran VG, Demirdag YY, Lougaris V, Aiuti A, Plebani A, Milito C, Dalm VA, Guevara-Hoyer K, Sánchez-Ramón S, Bezrodnik L, Barzaghi F, Gonzalez-Granado LI, Hayman GR, Uzel G, Mendonça LO, Agostini C, Spadaro G, Badolato R, Soresina A, Vermeulen F, Bosteels C, Lambrecht BN, Keller M, Mustillo PJ, Abraham RS, Gupta S, Ozen A, Karakoc-Aydiner E, Baris S, Freeman AF, Yamazaki-Nakashimada M, Scheffler-Mendoza S, Espinosa-Padilla S, Gennery AR, Jolles S, Espinosa Y, Poli MC, Fieschi C, Hauck F, Cunningham-Rundles C, Mahlaoui N; IUIS Committee of Inborn Errors of Immunity; Warnatz K, Sullivan KE, Tangye SG. Meyts I, et al. J Allergy Clin Immunol. 2021 Feb;147(2):520-531. doi: 10.1016/j.jaci.2020.09.010. Epub 2020 Sep 24. J Allergy Clin Immunol. 2021. PMID: 32980424 Free PMC article.
Two patients with chronic mucocutaneous candidiasis caused by TRAF3IP2 deficiency.
Shafer S, Yao Y, Comrie W, Cook S, Zhang Y, Yesil G, Karakoç-Aydiner E, Baris S, Cokugras H, Aydemir S, Kiykim A, Ozen A, Lenardo M. Shafer S, et al. J Allergy Clin Immunol. 2021 Jul;148(1):256-261.e2. doi: 10.1016/j.jaci.2020.12.629. Epub 2021 Jan 22. J Allergy Clin Immunol. 2021. PMID: 33359359 Free PMC article.
Broadly effective metabolic and immune recovery with C5 inhibition in CHAPLE disease.
Ozen A, Kasap N, Vujkovic-Cvijin I, Apps R, Cheung F, Karakoc-Aydiner E, Akkelle B, Sari S, Tutar E, Ozcay F, Uygun DK, Islek A, Akgun G, Selcuk M, Sezer OB, Zhang Y, Kutluk G, Topal E, Sayar E, Celikel C, Houwen RHJ, Bingol A, Ogulur I, Eltan SB, Snow AL, Lake C, Fantoni G, Alba C, Sellers B, Chauvin SD, Dalgard CL, Harari O, Ni YG, Wang MD, Devalaraja-Narashimha K, Subramanian P, Ergelen R, Artan R, Guner SN, Dalgic B, Tsang J, Belkaid Y, Ertem D, Baris S, Lenardo MJ. Ozen A, et al. Nat Immunol. 2021 Feb;22(2):128-139. doi: 10.1038/s41590-020-00830-z. Epub 2021 Jan 4. Nat Immunol. 2021. PMID: 33398182 Free PMC article.
Homozygous IL37 mutation associated with infantile inflammatory bowel disease.
Zhang ZZ, Zhang Y, He T, Sweeney CL, Baris S, Karakoc-Aydiner E, Yao Y, Ertem D, Matthews HF, Gonzaga-Jauregui C, Malech HL, Su HC, Ozen A, Smith KGC, Lenardo MJ. Zhang ZZ, et al. Proc Natl Acad Sci U S A. 2021 Mar 9;118(10):e2009217118. doi: 10.1073/pnas.2009217118. Proc Natl Acad Sci U S A. 2021. PMID: 33674380 Free PMC article. Clinical Trial.
Genomic Spectrum and Phenotypic Heterogeneity of Human IL-21 Receptor Deficiency.
Cagdas D, Mayr D, Baris S, Worley L, Langley DB, Metin A, Aytekin ES, Atan R, Kasap N, Bal SK, Dmytrus J, Heredia RJ, Karasu G, Torun SH, Toyran M, Karakoc-Aydiner E, Christ D, Kuskonmaz B, Uçkan-Çetinkaya D, Uner A, Oberndorfer F, Schiefer AI, Uzel G, Deenick EK, Keller B, Warnatz K, Neven B, Durandy A, Sanal O, Ma CS, Özen A, Stepensky P, Tezcan I, Boztug K, Tangye SG. Cagdas D, et al. J Clin Immunol. 2021 Aug;41(6):1272-1290. doi: 10.1007/s10875-021-01031-5. Epub 2021 Apr 30. J Clin Immunol. 2021. PMID: 33929673 Free PMC article.
Inflammatory Bowel Disease and Guillain Barre Syndrome in FCHO1 Deficiency.
Aydemir S, Islek A, Nepesov S, Yaman Y, Baysoy G, Beser OF, Cokugras FC, Baris S, Karakoc-Aydiner E, Cokugras H, Hubrack SZ, Kendir Demirkol Y, Lo B, Kiykim A, Ozen A. Aydemir S, et al. J Clin Immunol. 2021 Aug;41(6):1406-1410. doi: 10.1007/s10875-021-01042-2. Epub 2021 May 5. J Clin Immunol. 2021. PMID: 33950325 No abstract available.
GIMAP5 maintains liver endothelial cell homeostasis and prevents portal hypertension.
Drzewiecki K, Choi J, Brancale J, Leney-Greene MA, Sari S, Dalgiç B, Ünlüsoy Aksu A, Evirgen Şahin G, Ozen A, Baris S, Karakoc-Aydiner E, Jain D, Kleiner D, Schmalz M, Radhakrishnan K, Zhang J, Hoebe K, Su HC, Pereira JP, Lenardo MJ, Lifton RP, Vilarinho S. Drzewiecki K, et al. J Exp Med. 2021 Jul 5;218(7):e20201745. doi: 10.1084/jem.20201745. Epub 2021 May 6. J Exp Med. 2021. PMID: 33956074 Free PMC article.
Consensus Middle East and North Africa Registry on Inborn Errors of Immunity.
Aghamohammadi A, Rezaei N, Yazdani R, Delavari S, Kutukculer N, Topyildiz E, Ozen A, Baris S, Karakoc-Aydiner E, Kilic SS, Kose H, Gulez N, Genel F, Reisli I, Djenouhat K, Tahiat A, Boukari R, Ladj S, Belbouab R, Ferhani Y, Belaid B, Djidjik R, Kechout N, Attal N, Saidani K, Barbouche R, Bousfiha A, Sobh A, Rizk R, Elnagdy MH, Al-Ahmed M, Al-Tamemi S, Nasrullayeva G, Adeli M, Al-Nesf M, Hassen A, Mehawej C, Irani C, Megarbane A, Quinn J; MENA-I. E. I. Study Group; Maródi L, Modell V, Modell F, Al-Herz W, Geha RS, Abolhassani H. Aghamohammadi A, et al. J Clin Immunol. 2021 Aug;41(6):1339-1351. doi: 10.1007/s10875-021-01053-z. Epub 2021 May 29. J Clin Immunol. 2021. PMID: 34052995 Free PMC article.
Therapeutic options for CTLA-4 insufficiency.
Egg D, Rump IC, Mitsuiki N, Rojas-Restrepo J, Maccari ME, Schwab C, Gabrysch A, Warnatz K, Goldacker S, Patiño V, Wolff D, Okada S, Hayakawa S, Shikama Y, Kanda K, Imai K, Sotomatsu M, Kuwashima M, Kamiya T, Morio T, Matsumoto K, Mori T, Yoshimoto Y, Dybedal I, Kanariou M, Kucuk ZY, Chapdelaine H, Petruzelkova L, Lorenz HM, Sullivan KE, Heimall J, Moutschen M, Litzman J, Recher M, Albert MH, Hauck F, Seneviratne S, Pachlopnik Schmid J, Kolios A, Unglik G, Klemann C, Snapper S, Giulino-Roth L, Svaton M, Platt CD, Hambleton S, Neth O, Gosse G, Reinsch S, Holzinger D, Kim YJ, Bakhtiar S, Atschekzei F, Schmidt R, Sogkas G, Chandrakasan S, Rae W, Derfalvi B, Marquart HV, Ozen A, Kiykim A, Karakoc-Aydiner E, Králíčková P, de Bree G, Kiritsi D, Seidel MG, Kobbe R, Dantzer J, Alsina L, Armangue T, Lougaris V, Agyeman P, Nyström S, Buchbinder D, Arkwright PD, Grimbacher B. Egg D, et al. J Allergy Clin Immunol. 2022 Feb;149(2):736-746. doi: 10.1016/j.jaci.2021.04.039. Epub 2021 Jun 7. J Allergy Clin Immunol. 2022. PMID: 34111452 Free article.
Impaired respiratory burst contributes to infections in PKCδ-deficient patients.
Neehus AL, Moriya K, Nieto-Patlán A, Le Voyer T, Lévy R, Özen A, Karakoc-Aydiner E, Baris S, Yildiran A, Altundag E, Roynard M, Haake K, Migaud M, Dorgham K, Gorochov G, Abel L, Lachmann N, Dogu F, Haskologlu S, İnce E, El-Benna J, Uzel G, Kiykim A, Boztug K, Roderick MR, Shahrooei M, Brogan PA, Abolhassani H, Hancioglu G, Parvaneh N, Belot A, Ikinciogullari A, Casanova JL, Puel A, Bustamante J. Neehus AL, et al. J Exp Med. 2021 Sep 6;218(9):e20210501. doi: 10.1084/jem.20210501. Epub 2021 Jul 15. J Exp Med. 2021. PMID: 34264265 Free PMC article.
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.
Adverse COVID-19 outcomes in immune deficiencies: Inequality exists between subclasses.
Karakoc Aydiner E, Bilgic Eltan S, Babayeva R, Aydiner O, Kepenekli E, Kolukisa B, Sefer AP, Yalcin Gungoren E, Karabiber E, Yucel EO, Ozdemir O, Kiykim A, Artac H, Yakici N, Yalcin K, Cokugras H, Celkan TT, Orhan F, Yesilipek MA, Baris S, Ozen A. Karakoc Aydiner E, et al. Allergy. 2022 Jan;77(1):282-295. doi: 10.1111/all.15025. Epub 2021 Aug 10. Allergy. 2022. PMID: 34314546 Free PMC article.
Determining T and B Cell development by TREC/KREC analysis in primary immunodeficiency patients and healthy controls.
Şentürk G, Ng YY, Eltan SB, Başer D, Ogulur I, Altındirek D, Fırtına S, Yılmaz H, Kocamış B, Kıykım A, Camcıoğlu Y, Ar MC, Sudutan T, Beken S, Temel ŞG, Alanay Y, Karakoc-Aydiner E, Barış S, Özen A, Özbek U, Sayitoğlu M, Hatırnaz Ng Ö. Şentürk G, et al. Scand J Immunol. 2022 Mar;95(3):e13130. doi: 10.1111/sji.13130. Epub 2022 Jan 3. Scand J Immunol. 2022. PMID: 34951041 Free article.
Low Density Granulocytes and Dysregulated Neutrophils Driving Autoinflammatory Manifestations in NEMO Deficiency.
Surucu Yilmaz N, Bilgic Eltan S, Kayaoglu B, Geckin B, Heredia RJ, Sefer AP, Kiykim A, Nain E, Kasap N, Dogru O, Yucelten AD, Cinel L, Karasu G, Yesilipek A, Sozeri B, Kaya GG, Yilmaz IC, Baydemir I, Aydin Y, Cansen Kahraman D, Haimel M, Boztug K, Karakoc-Aydiner E, Gursel I, Ozen A, Baris S, Gursel M. Surucu Yilmaz N, et al. J Clin Immunol. 2022 Apr;42(3):582-596. doi: 10.1007/s10875-021-01176-3. Epub 2022 Jan 14. J Clin Immunol. 2022. PMID: 35028801
Expanding the Clinical and Immunological Phenotypes and Natural History of MALT1 Deficiency.
Sefer AP, Abolhassani H, Ober F, Kayaoglu B, Bilgic Eltan S, Kara A, Erman B, Surucu Yilmaz N, Aydogmus C, Aydemir S, Charbonnier LM, Kolukisa B, Azizi G, Delavari S, Momen T, Aliyeva S, Kendir Demirkol Y, Tekin S, Kiykim A, Baser OF, Cokugras H, Gursel M, Karakoc-Aydiner E, Ozen A, Krappmann D, Chatila TA, Rezaei N, Baris S. Sefer AP, et al. J Clin Immunol. 2022 Apr;42(3):634-652. doi: 10.1007/s10875-021-01191-4. Epub 2022 Jan 26. J Clin Immunol. 2022. PMID: 35079916
COVID-19 disease characteristics in different pediatric age groups.
Kepenekli E, Yakut N, Ergenc Z, Aydıner Ö, Sarınoğlu RC, Karahasan A, Karakoc-Aydıner E, Memişoğlu A, Gökdemir Y, Eralp EE, Ergenekon P, Karadağ B, Tezel KG, Aydın M, Şenyürek B, Boran P. Kepenekli E, et al. J Infect Dev Ctries. 2022 Jan 31;16(1):16-24. doi: 10.3855/jidc.15353. J Infect Dev Ctries. 2022. PMID: 35192517 Free article.
A boy with a novel homozygous ZAP70 mutation presenting with a dermatological phenotype and postnatal decrease in CD8+ T cells.
Babayeva R, Mongellaz C, Karakus IS, Cansever M, Bilgic Eltan S, Catak MC, Bulutoglu A, Kendir Demirkol Y, Eser M, Karakoc-Aydiner E, Ozen A, Zimmermann VS, Taylor N, Baris S. Babayeva R, et al. Pediatr Allergy Immunol. 2022 Mar;33(3):e13756. doi: 10.1111/pai.13756. Pediatr Allergy Immunol. 2022. PMID: 35338726 Free PMC article. No abstract available.
Notch1-CD22-Dependent Immune Dysregulation in the SARS-CoV2-Associated Multisystem Inflammatory Syndrome in Children.
Chatila TA, Benamar M, Chen Q, Chou J, Julé A, Boudra R, Contini P, Crestani E, Wang M, Fong J, Lai P, Rockwitz S, Lee P, Chan TMF, Altun EZ, Kepenekli E, Karakoc-Aydiner E, Ozen A, Boran P, Aygun F, Onal P, Sakalli AAK, Cokugras H, Gelmez M, Öktelik F, Cetin EA, Zhong Y, Taylor M, Irby K, Halasa N, Signa S, Prigione I, Gattorno M, Cotugno N, Amodio D, Geha R, Son MB, Newburger J, Agrawal P, Volpi S, Palma P, Kiykim A, Randolph A, Deniz G, Baris S, De Palma R, Schmitz-Abe K, Charbonnier LM, Henderson L. Chatila TA, et al. Res Sq [Preprint]. 2022 Apr 11:rs.3.rs-1054453. doi: 10.21203/rs.3.rs-1054453/v1. Res Sq. 2022. PMID: 35441180 Free PMC article. Preprint.
Clinical and Laboratory Factors Affecting the Prognosis of Severe Combined Immunodeficiency.
Ozturk E, Catak MC, Kiykim A, Baser D, Bilgic Eltan S, Yalcin K, Kasap N, Nain E, Bulutoglu A, Akgun G, Can Y, Sefer AP, Babayeva R, Caki-Kilic S, Tezcan Karasu G, Yesilipek A, Ozen A, Karakoc-Aydiner E, Baris S. Ozturk E, et al. J Clin Immunol. 2022 Jul;42(5):1036-1050. doi: 10.1007/s10875-022-01262-0. Epub 2022 Apr 22. J Clin Immunol. 2022. PMID: 35451701
Comparing the levels of CTLA-4-dependent biological defects in patients with LRBA deficiency and CTLA-4 insufficiency.
Catak MC, Akcam B, Bilgic Eltan S, Babayeva R, Karakus IS, Akgun G, Baser D, Bulutoglu A, Bayram F, Kasap N, Kiykim A, Hancioglu G, Kokcu Karadag SI, Kendir Demirkol Y, Ozen S, Cekic S, Ozcan D, Edeer Karaca N, Sasihuseyinoglu AS, Cansever M, Ozek Yucel E, Tamay Z, Altintas DU, Aydogmus C, Celmeli F, Cokugras H, Gulez N, Genel F, Metin A, Guner SN, Kutukculer N, Keles S, Reisli I, Kilic SS, Yildiran A, Karakoc-Aydiner E, Lo B, Ozen A, Baris S. Catak MC, et al. Allergy. 2022 Oct;77(10):3108-3123. doi: 10.1111/all.15331. Epub 2022 May 12. Allergy. 2022. PMID: 35491430
Increased radiosensitivity and impaired DNA repair in patients with STAT3-LOF and ZNF341 deficiency, potentially contributing to malignant transformations.
Cekic S, Huriyet H, Hortoglu M, Kasap N, Ozen A, Karakoc-Aydiner E, Metin A, Ocakoglu G, Demiroz Abakay C, Temel SG, Ozemri Sag S, Baris S, Cavas T, Sebnem Kilic S. Cekic S, et al. Clin Exp Immunol. 2022 Jul 22;209(1):83-89. doi: 10.1093/cei/uxac041. Clin Exp Immunol. 2022. PMID: 35511492 Free PMC article.
Clinical, immunological, molecular and therapeutic findings in monogenic immune dysregulation diseases: Middle East and North Africa registry.
Jamee M, Azizi G, Baris S, Karakoc-Aydiner E, Ozen A, Kiliç SŞ, Kose H, Chavoshzadeh Z, Mahdaviani SA, Momen T, Shamsian BS, Fallahi M, Sharafian S, Gülez N, Aygun A, Karaca NE, Kutukculer N, Al Sukait N, Al Farsi T, Al-Tamemi S, Khalifa N, Shereen R, El-Ghoneimy D, El-Owaidy R, Radwan N, Alzyoud R, Barbouche MR, Ben-Mustapha I, Mekki N, Rais A, Boukari R, Belbouab R, Djenouhat K, Tahiat A, Touri S, Elghazali G, Al-Hammadi S, Shendi HM, Alkuwaiti A, Belaid B, Djidjik R, Artac H, Adeli M, Sobh A, Elnagdy MH, Bahgat SA, Nasrullayeva G, Chou J, Rezaei N, Al-Herz W, Geha RS, Abolhassani H; MENA-I. E. I. Study Group. Jamee M, et al. Clin Immunol. 2022 Nov;244:109131. doi: 10.1016/j.clim.2022.109131. Epub 2022 Sep 27. Clin Immunol. 2022. PMID: 36179983 Free article.
Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome.
Leiding JW, Vogel TP, Santarlas VGJ, Mhaskar R, Smith MR, Carisey A, Vargas-Hernández A, Silva-Carmona M, Heeg M, Rensing-Ehl A, Neven B, Hadjadj J, Hambleton S, Ronan Leahy T, Meesilpavikai K, Cunningham-Rundles C, Dutmer CM, Sharapova SO, Taskinen M, Chua I, Hague R, Klemann C, Kostyuchenko L, Morio T, Thatayatikom A, Ozen A, Scherbina A, Bauer CS, Flanagan SE, Gambineri E, Giovannini-Chami L, Heimall J, Sullivan KE, Allenspach E, Romberg N, Deane SG, Prince BT, Rose MJ, Bohnsack J, Mousallem T, Jesudas R, Santos Vilela MMD, O'Sullivan M, Pachlopnik Schmid J, Průhová Š, Klocperk A, Rees M, Su H, Bahna S, Baris S, Bartnikas LM, Chang Berger A, Briggs TA, Brothers S, Bundy V, Chan AY, Chandrakasan S, Christiansen M, Cole T, Cook MC, Desai MM, Fischer U, Fulcher DA, Gallo S, Gauthier A, Gennery AR, Gonçalo Marques J, Gottrand F, Grimbacher B, Grunebaum E, Haapaniemi E, Hämäläinen S, Heiskanen K, Heiskanen-Kosma T, Hoffman HM, Gonzalez-Granado LI, Guerrerio AL, Kainulainen L, Kumar A, Lawrence MG, Levin C, Martelius T, Neth O, Olbrich P, Palma A, Patel NC, Pozos T, Preece K, Lugo Reyes SO, Russell MA, Schejter Y, Seroogy C, Sinclair J, Skevofilax E, Suan D, Suez D, Szabolcs P, Velas… See abstract for full author list ➔ Leiding JW, et al. J Allergy Clin Immunol. 2023 Apr;151(4):1081-1095. doi: 10.1016/j.jaci.2022.09.002. Epub 2022 Oct 11. J Allergy Clin Immunol. 2023. PMID: 36228738 Free PMC article.
The Middle East and North Africa Diagnosis and Management Guidelines for Inborn Errors of Immunity.
Baris S, Abolhassani H, Massaad MJ, Al-Nesf M, Chavoshzadeh Z, Keles S, Reisli I, Tahiat A, Shendi HM, Elaziz DA, Belaid B, Al Dhaheri F, Haskologlu S, Dogu F, Ben-Mustapha I, Sobh A, Galal N, Meshaal S, Elhawary R, El-Marsafy A, Alroqi FJ, Al-Saud B, Al-Ahmad M, Al Farsi T, Al Sukaiti N, Al-Tamemi S, Mehawej C, Dbaibo G, ElGhazali G, Kilic SS, Genel F, Kiykim A, Musabak U, Artac H, Guner SN, Boukari R, Djidjik R, Kechout N, Cagdas D, El-Sayed ZA, Karakoc-Aydiner E, Alzyoud R, Barbouche MR, Adeli M, Wakim RH, Reda SM, Ikinciogullari A, Ozen A, Bousfiha A, Al-Mousa H, Rezaei N, Al-Herz W, Geha RS. Baris S, et al. J Allergy Clin Immunol Pract. 2023 Jan;11(1):158-180.e11. doi: 10.1016/j.jaip.2022.10.003. Epub 2022 Oct 17. J Allergy Clin Immunol Pract. 2023. PMID: 36265766 Review.
The Notch1/CD22 signaling axis disrupts Treg function in SARS-CoV-2-associated multisystem inflammatory syndrome in children.
Benamar M, Chen Q, Chou J, Julé AM, Boudra R, Contini P, Crestani E, Lai PS, Wang M, Fong J, Rockwitz S, Lee P, Chan TMF, Altun EZ, Kepenekli E, Karakoc-Aydiner E, Ozen A, Boran P, Aygun F, Onal P, Sakalli AAK, Cokugras H, Gelmez MY, Oktelik FB, Cetin EA, Zhong Y, Taylor ML, Irby K, Halasa NB, Mack EH; Overcoming COVID-19 Investigators; Signa S, Prigione I, Gattorno M, Cotugno N, Amodio D, Geha RS, Son MB, Newburger J, Agrawal PB, Volpi S, Palma P, Kiykim A, Randolph AG, Deniz G, Baris S, De Palma R, Schmitz-Abe K, Charbonnier LM, Henderson LA, Chatila TA. Benamar M, et al. J Clin Invest. 2023 Jan 3;133(1):e163235. doi: 10.1172/JCI163235. J Clin Invest. 2023. PMID: 36282598 Free PMC article.
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. 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.
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. 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 Free PMC article.
Correction to: Clinical and Laboratory Factors Affecting the Prognosis of Severe Combined Immunodeficiency.
Ozturk E, Catak MC, Kiykim A, Baser D, Bilgic Eltan S, Yalcin K, Kasap N, Nain E, Bulutoglu A, Akgun G, Can Y, Sefer AP, Babayeva R, Caki-Kilic S, Karasu GT, Yesilipek A, Ozen A, Karakoc-Aydiner E, Baris S. Ozturk E, et al. J Clin Immunol. 2023 Jul;43(5):1032. doi: 10.1007/s10875-023-01455-1. J Clin Immunol. 2023. PMID: 36905459 No abstract available.
Biallelic NFATC1 mutations cause an inborn error of immunity with impaired CD8+ T-cell function and perturbed glycolysis.
Kostel Bal S, Giuliani S, Block J, Repiscak P, Hafemeister C, Shahin T, Kasap N, Ransmayr B, Miao Y, van de Wetering C, Frohne A, Jimenez Heredia R, Schuster M, Zoghi S, Hertlein V, Thian M, Bykov A, Babayeva R, Bilgic Eltan S, Karakoc-Aydiner E, Shaw LE, Chowdhury I, Varjosalo M, Argüello RJ, Farlik M, Ozen A, Serfling E, Dupré L, Bock C, Halbritter F, Hannich JT, Castanon I, Kraakman MJ, Baris S, Boztug K. Kostel Bal S, et al. Blood. 2023 Aug 31;142(9):827-845. doi: 10.1182/blood.2022018303. Blood. 2023. PMID: 37249233 Free article.
Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity.
Maccari ME, Wolkewitz M, Schwab C, Lorenzini T, Leiding JW, Aladjdi N, Abolhassani H, Abou-Chahla W, Aiuti A, Azarnoush S, Baris S, Barlogis V, Barzaghi F, Baumann U, Bloomfield M, Bohynikova N, Bodet D, Boutboul D, Bucciol G, Buckland MS, Burns SO, Cancrini C, Cathébras P, Cavazzana M, Cheminant M, Chinello M, Ciznar P, Coulter TI, D'Aveni M, Ekwall O, Eric Z, Eren E, Fasth A, Frange P, Fournier B, Garcia-Prat M, Gardembas M, Geier C, Ghosh S, Goda V, Hammarström L, Hauck F, Heeg M, Heropolitanska-Pliszka E, Hilfanova A, Jolles S, Karakoc-Aydiner E, Kindle GR, Kiykim A, Klemann C, Koletsi P, Koltan S, Kondratenko I, Körholz J, Krüger R, Jeziorski E, Levy R, Le Guenno G, Lefevre G, Lougaris V, Marzollo A, Mahlaoui N, Malphettes M, Meinhardt A, Merlin E, Meyts I, Milota T, Moreira F, Moshous D, Mukhina A, Neth O, Neubert J, Neven B, Nieters A, Nove-Josserand R, Oksenhendler E, Ozen A, Olbrich P, Perlat A, Pac M, Schmid JP, Pacillo L, Parra-Martinez A, Paschenko O, Pellier I, Sefer AP, Plebani A, Plantaz D, Prader S, Raffray L, Ritterbusch H, Riviere JG, Rivalta B, Rusch S, Sakovich I, Savic S, Scheible R, Schleinitz N, Schuetz C, Schulz A, Sediva A, Semeraro M, Sharapova SO, Shcher… See abstract for full author list ➔ Maccari ME, et al. J Allergy Clin Immunol. 2023 Oct;152(4):984-996.e10. doi: 10.1016/j.jaci.2023.06.015. Epub 2023 Jun 28. J Allergy Clin Immunol. 2023. PMID: 37390899 Free article.
Outcomes of hematopoietic stem cell gene therapy for Wiskott-Aldrich syndrome.
Labrosse R, Chu JI, Armant MA, Everett JK, Pellin D, Kareddy N, Frelinger AL, Henderson LA, O'Connell AE, Biswas A, Coenen-van der Spek J, Miggelbrink A, Fiorini C, Adhikari H, Berry CC, Cantu VA, Fong J, Jaroslavsky J, Karadeniz DF, Li QZ, Reddy S, Roche AM, Zhu C, Whangbo JS, Dansereau C, Mackinnon B, Morris E, Koo SM, London WB, Baris S, Ozen A, Karakoc-Aydiner E, Despotovic JM, Forbes Satter LR, Saitoh A, Aizawa Y, King A, Nguyen MAT, Vu VDU, Snapper SB, Galy A, Notarangelo LD, Bushman FD, Williams DA, Pai SY. Labrosse R, et al. Blood. 2023 Oct 12;142(15):1281-1296. doi: 10.1182/blood.2022019117. Blood. 2023. PMID: 37478401 Free PMC article.
Atypical Localization of Eczema Discriminates DOCK8 or STAT3 Deficiencies from Atopic Dermatitis.
Kasap N, Kara A, Celik V, Bilgic Eltan S, Akay Haci I, Kose H, Aygun A, Akkelle E, Yakici N, Guner SN, Reisli I, Keles S, Cekic S, Kilic SS, Karaca NE, Gulez N, Genel F, Ozen A, Yucelten AD, Karakoc-Aydiner E, Schmitz-Abe K, Baris S. Kasap N, et al. J Clin Immunol. 2023 Nov;43(8):1882-1890. doi: 10.1007/s10875-023-01554-z. Epub 2023 Jul 29. J Clin Immunol. 2023. PMID: 37507632
Therapeutic modalities and clinical outcomes in a large cohort with LRBA deficiency and CTLA4 insufficiency.
Taghizade N, Babayeva R, Kara A, Karakus IS, Catak MC, Bulutoglu A, Haskologlu ZS, Akay Haci I, Tunakan Dalgic C, Karabiber E, Bilgic Eltan S, Yorgun Altunbas M, Sefer AP, Sezer A, Kokcu Karadag SI, Arik E, Karali Z, Ozhan Kont A, Tuzer C, Karaman S, Mersin SS, Kasap N, Celik E, Kocacik Uygun DF, Aydemir S, Kiykim A, Aydogmus C, Ozek Yucel E, Celmeli F, Karatay E, Bozkurtlar E, Demir S, Metin A, Karaca NE, Kutukculer N, Aksu G, Guner SN, Keles S, Reisli I, Kendir Demirkol Y, Arikoglu T, Gulez N, Genel F, Kilic SS, Aytekin C, Keskin O, Yildiran A, Ozcan D, Altintas DU, Ardeniz FO, Dogu EF, Ikinciogullari KA, Karakoc-Aydiner E, Ozen A, Baris S. Taghizade N, et al. J Allergy Clin Immunol. 2023 Dec;152(6):1634-1645. doi: 10.1016/j.jaci.2023.08.004. Epub 2023 Aug 16. J Allergy Clin Immunol. 2023. PMID: 37595759
Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients.
Yakici N, Kreins AY, Catak MC, Babayeva R, Erman B, Kenney H, Gungor HE, Cea PA, Kawai T, Bosticardo M, Delmonte OM, Adams S, Fan YT, Pala F, Turkyilmaz A, Howley E, Worth A, Kot H, Sefer AP, Kara A, Bulutoglu A, Bilgic-Eltan S, Altunbas MY, Bayram Catak F, Karakus IS, Karatay E, Tekeoglu SD, Eser M, Albayrak D, Citli S, Kiykim A, Karakoc-Aydiner E, Ozen A, Ghosh S, Gohlke H, Orhan F, Notarangelo LD, Davies EG, Baris S. Yakici N, et al. Clin Immunol. 2023 Oct;255:109757. doi: 10.1016/j.clim.2023.109757. Epub 2023 Sep 9. Clin Immunol. 2023. PMID: 37689091 Free PMC article.
Corrigendum to "Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients" [Clinical Immunology 255 (2023) 109757].
Yakici N, Kreins AY, Catak MC, Babayeva R, Erman B, Kenney H, Eke-Gungor H, Cea PA, Kawai T, Bosticardo M, Delmonte OM, Adams S, Fan YT, Pala F, Turkyilmaz A, Howley E, Worth A, Kot H, Sefer AP, Kara A, Bulutoglu A, Bilgic-Eltan S, Yorgun Altunbas M, Bayram Catak F, Karakus IS, Karatay E, Tekeoglu SD, Eser M, Albayrak D, Citli S, Kiykim A, Karakoc-Aydiner E, Ozen A, Ghosh S, Gohlke H, Orhan F, Notarangelo LD, Davies EG, Baris S. Yakici N, et al. Clin Immunol. 2023 Nov;256:109799. doi: 10.1016/j.clim.2023.109799. Epub 2023 Oct 14. Clin Immunol. 2023. PMID: 37845128 Free PMC article. No abstract available.
Evaluation of Clinical and Immunological Alterations Associated with ICF Syndrome.
Bilgic Eltan S, Nain E, Catak MC, Ezen E, Sefer AP, Karimi N, Kiykim A, Kolukisa B, Baser D, Bulutoglu A, Kasap N, Yorgun Altunbas M, Yalcin Gungoren E, Kendir Demirkol Y, Kutlug S, Hancioglu G, Dilek F, Yildiran A, Ozen A, Karakoc-Aydiner E, Erman B, Baris S. Bilgic Eltan S, et al. J Clin Immunol. 2023 Dec 22;44(1):26. doi: 10.1007/s10875-023-01620-6. J Clin Immunol. 2023. PMID: 38129713
GIMAP5 deficiency reveals a mammalian ceramide-driven longevity assurance pathway.
Park AY, Leney-Greene M, Lynberg M, Gabrielski JQ, Xu X, Schwarz B, Zheng L, Balasubramaniyam A, Ham H, Chao B, Zhang Y, Matthews HF, Cui J, Yao Y, Kubo S, Chanchu JM, Morawski AR, Cook SA, Jiang P, Ravell JC, Cheng YH, George A, Faruqi A, Pagalilauan AM, Bergerson JRE, Ganesan S, Chauvin SD, Aluri J, Edwards-Hicks J, Bohrnsen E, Tippett C, Omar H, Xu L, Butcher GW, Pascall J, Karakoc-Aydiner E, Kiykim A, Maecker H, Tezcan İ, Esenboga S, Heredia RJ, Akata D, Tekin S, Kara A, Kuloglu Z, Unal E, Kendirli T, Dogu F, Karabiber E, Atkinson TP, Cochet C, Filhol O, Bosio CM, Davis MM, Lifton RP, Pearce EL, Daumke O, Aytekin C, Şahin GE, Aksu AÜ, Uzel G, Koneti Rao V, Sari S, Dalgıç B, Boztug K, Cagdas D, Haskologlu S, Ikinciogullari A, Schwefel D, Vilarinho S, Baris S, Ozen A, Su HC, Lenardo MJ. Park AY, et al. Nat Immunol. 2024 Feb;25(2):282-293. doi: 10.1038/s41590-023-01691-y. Epub 2024 Jan 3. Nat Immunol. 2024. PMID: 38172257 Free PMC article.
Evaluating the efficacy and safety of pozelimab in patients with CD55 deficiency with hyperactivation of complement, angiopathic thrombosis, and protein-losing enteropathy disease: an open-label phase 2 and 3 study.
Ozen A, Chongsrisawat V, Sefer AP, Kolukisa B, Jalbert JJ, Meagher KA, Brackin T, Feldman HB, Baris S, Karakoc-Aydiner E, Ergelen R, Fuss IJ, Moorman H, Suratannon N, Suphapeetiporn K, Perlee L, Harari OA, Yancopoulos GD, Lenardo MJ; Pozelimab CHAPLE Working Group. Ozen A, et al. Lancet. 2024 Feb 17;403(10427):645-656. doi: 10.1016/S0140-6736(23)02358-9. Epub 2024 Jan 23. Lancet. 2024. PMID: 38278170 Free PMC article. Clinical Trial.
Author Correction: GIMAP5 deficiency reveals a mammalian ceramide-driven longevity assurance pathway.
Park AY, Leney-Greene M, Lynberg M, Gabrielski JQ, Xu X, Schwarz B, Zheng L, Balasubramaniyam A, Ham H, Chao B, Zhang Y, Matthews HF, Cui J, Yao Y, Kubo S, Chanchu JM, Morawski AR, Cook SA, Jiang P, Ravell JC, Cheng YH, George A, Faruqi A, Pagalilauan AM, Bergerson JRE, Ganesan S, Chauvin SD, Aluri J, Edwards-Hicks J, Bohrnsen E, Tippett C, Omar H, Xu L, Butcher GW, Pascall J, Karakoc-Aydiner E, Kiykim A, Maecker H, Tezcan İ, Esenboga S, Heredia RJ, Akata D, Tekin S, Kara A, Kuloglu Z, Unal E, Kendirli T, Dogu F, Karabiber E, Atkinson TP, Cochet C, Filhol O, Bosio CM, Davis MM, Lifton RP, Pearce EL, Daumke O, Aytekin C, Şahin GE, Aksu AÜ, Uzel G, Koneti Rao V, Sari S, Dalgıç B, Boztug K, Cagdas D, Haskologlu S, Ikinciogullari A, Schwefel D, Vilarinho S, Baris S, Ozen A, Su HC, Lenardo MJ. Park AY, et al. Nat Immunol. 2024 Apr;25(4):717. doi: 10.1038/s41590-024-01779-z. Nat Immunol. 2024. PMID: 38347083 No abstract available.
TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome.
Werren EA, LaForce GR, Srivastava A, Perillo DR, Li S, Johnson K, Baris S, Berger B, Regan SL, Pfennig CD, de Munnik S, Pfundt R, Hebbar M, Jimenez-Heredia R, Karakoc-Aydiner E, Ozen A, Dmytrus J, Krolo A, Corning K, Prijoles EJ, Louie RJ, Lebel RR, Le TL, Amiel J, Gordon CT, Boztug K, Girisha KM, Shukla A, Bielas SL, Schaffer AE. Werren EA, et al. Nat Commun. 2024 Feb 22;15(1):1640. doi: 10.1038/s41467-024-45948-y. Nat Commun. 2024. PMID: 38388531 Free PMC article.
Rapamycin Controls Lymphoproliferation and Reverses T-Cell Responses in a Patient with a Novel STIM1 Loss-of-Function Deletion.
Karakus IS, Catak MC, Frohne A, Bayram Catak F, Yorgun Altunbas M, Babayeva R, Bal SK, Eltan SB, Yalcin Gungoren E, Esen F, Zemheri IE, Karakoc-Aydiner E, Ozen A, Caki-Kilic S, Kraakman MJ, Boztug K, Baris S. Karakus IS, et al. J Clin Immunol. 2024 Apr 5;44(4):94. doi: 10.1007/s10875-024-01682-0. J Clin Immunol. 2024. PMID: 38578569 Free PMC article.
Artemis deficiency: A large cohort including a novel variant with increased radiosensitivity.
Meric Z, Gemici Karaaslan B, Yalcin Gungoren E, Bektas Hortoglu M, Cavas T, Aydemir S, Bilgic Eltan S, Firtina S, Kendir Demirkol Y, Eser M, Cekic S, Kilic S, Karasu G, Yesilipek MA, Eke Gungor H, Karakoc-Aydiner E, Ozen A, Baris S, Yucel E, Cokugras H, Kiykim A. Meric Z, et al. Pediatr Allergy Immunol. 2024 Jun;35(6):e14171. doi: 10.1111/pai.14171. Pediatr Allergy Immunol. 2024. PMID: 38860449
Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türkiye.
Erman B, Aba U, Ipsir C, Pehlivan D, Aytekin C, Cildir G, Cicek B, Bozkurt C, Tekeoglu S, Kaya M, Aydogmus C, Cipe F, Sucak G, Eltan SB, Ozen A, Barıs S, Karakoc-Aydiner E, Kıykım A, Karaatmaca B, Kose H, Uygun DFK, Celmeli F, Arikoglu T, Ozcan D, Keskin O, Arık E, Aytekin ES, Cesur M, Kucukosmanoglu E, Kılıc M, Yuksek M, Bıcakcı Z, Esenboga S, Ayvaz DÇ, Sefer AP, Guner SN, Keles S, Reisli I, Musabak U, Demirbas ND, Haskologlu S, Kilic SS, Metin A, Dogu F, Ikinciogulları A, Tezcan I. Erman B, et al. J Clin Immunol. 2024 Jul 2;44(7):157. doi: 10.1007/s10875-024-01759-w. J Clin Immunol. 2024. PMID: 38954121 Free PMC article.
MHC Class II Deficiency: Clinical, Immunological, and Genetic Insights in a Large Multicenter Cohort.
Gulec Koksal Z, Bilgic Eltan S, Topyildiz E, Sezer A, Keles S, Celebi Celik F, Ozhan Kont A, Gemici Karaaslan B, Sefer AP, Karali Z, Arik E, Ozek Yucel E, Akcal O, Karakurt LT, Yorgun Altunbas M, Yalcin K, Uygun V, Ozek G, Babayeva R, Aydogmus C, Ozcan D, Cavkaytar O, Keskin O, Kilic SS, Kiykim A, Arikoglu T, Genel F, Gulez N, Guner SN, Karaca NE, Reisli I, Kutukculer N, Altintas DU, Ozen A, Karakoc Aydiner E, Baris S. Gulec Koksal Z, et al. J Allergy Clin Immunol Pract. 2024 Sep;12(9):2490-2502.e6. doi: 10.1016/j.jaip.2024.06.046. Epub 2024 Jul 10. J Allergy Clin Immunol Pract. 2024. PMID: 38996837
Insights into Patient Experiences with Facilitated Subcutaneous Immunoglobulin Therapy in Primary Immune Deficiency: A Prospective Observational Cohort.
Yalcin Gungoren E, Yorgun Altunbas M, Dikici U, Meric Z, Eser Simsek I, Kiykim A, Can S, Karabiber E, Yakici N, Orhan F, Cokugras H, Aydogan M, Ozdemir O, Bilgic Eltan S, Baris S, Ozen A, Karakoc-Aydiner E. Yalcin Gungoren E, et al. J Clin Immunol. 2024 Aug 5;44(8):169. doi: 10.1007/s10875-024-01771-0. J Clin Immunol. 2024. PMID: 39098942 Free PMC article.
DIAPH1-Deficiency is Associated with Major T, NK and ILC Defects in Humans.
Azizoglu ZB, Babayeva R, Haskologlu ZS, Acar MB, Ayaz-Guner S, Okus FZ, Alsavaf MB, Can S, Basaran KE, Canatan MF, Ozcan A, Erkmen H, Leblebici CB, Yilmaz E, Karakukcu M, Kose M, Canoz O, Özen A, Karakoc-Aydiner E, Ceylaner S, Gümüş G, Per H, Gumus H, Canatan H, Ozcan S, Dogu F, Ikinciogullari A, Unal E, Baris S, Eken A. Azizoglu ZB, et al. J Clin Immunol. 2024 Aug 9;44(8):175. doi: 10.1007/s10875-024-01777-8. J Clin Immunol. 2024. PMID: 39120629 Free PMC article.
Diverse Clinical and Immunological Profiles in Patients with IPEX Syndrome: a Multicenter Analysis from Turkey.
Bekis Bozkurt H, Bayram Catak F, Sahin A, Yalcin Gungoren E, Gemici Karaarslan B, Yakici N, Yorgun Altunbas M, Catak MC, Can S, Amirov R, Bozkurt S, Ozturk N, Bilgic Eltan S, Kasap N, Bal Cetinkaya F, Orhan F, Arga M, Cavkaytar O, Kiykim A, Karakoc-Aydiner E, Ozen A, Baris S. Bekis Bozkurt H, et al. J Clin Immunol. 2024 Sep 16;45(1):9. doi: 10.1007/s10875-024-01791-w. J Clin Immunol. 2024. PMID: 39283523
Long-term immunological changes after corrective cardiac surgery.
Bilgic-Eltan S, Amirov R, Babayeva R, Yorgun Altunbas M, Karakurt T, Can S, Yalcin Gungoren E, Bozkurt S, Ozturk N, Catak MC, Bulutoglu A, Onder G, Ng YY, Hatırnaz Ng O, Karakoc-Aydiner E, Ozen AO, Baris S. Bilgic-Eltan S, et al. Scand J Immunol. 2024 Dec;100(6):e13418. doi: 10.1111/sji.13418. Epub 2024 Oct 30. Scand J Immunol. 2024. PMID: 39474990
Correction to: Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türkiye.
Erman B, Aba U, Ipsir C, Pehlivan D, Aytekin C, Cildir G, Cicek B, Bozkurt C, Tekeoglu S, Kaya M, Aydogmus C, Cipe F, Sucak G, Eltan SB, Ozen A, Barıs S, Karakoc-Aydiner E, Kıykım A, Karaatmaca B, Kose H, Uygun DFK, Celmeli F, Arikoglu T, Ozcan D, Keskin O, Arık E, Aytekin ES, Cesur M, Kucukosmanoglu E, Kılıc M, Yuksek M, Bıcakcı Z, Esenboga S, Ayvaz DÇ, Sefer AP, Guner SN, Keles S, Reisli I, Musabak U, Demirbas ND, Haskologlu S, Kilic SS, Metin A, Dogu F, Ikinciogulları A, Tezcan I. Erman B, et al. J Clin Immunol. 2024 Nov 14;45(1):41. doi: 10.1007/s10875-024-01841-3. J Clin Immunol. 2024. PMID: 39540960 Free PMC article. No abstract available.
Correction to: DIAPH1-Deficiency is Associated with Major T, NK and ILC Defects in Humans.
Azizoglu ZB, Babayeva R, Haskologlu ZS, Acar MB, Ayaz-Guner S, Okus FZ, Alsavaf MB, Can S, Basaran KE, Canatan MF, Ozcan A, Erkmen H, Leblebici CB, Yilmaz E, Karakukcu M, Kose M, Canoz O, Özen A, Karakoc-Aydiner E, Ceylaner S, Gümüş G, Per H, Gumus H, Canatan H, Ozcan S, Dogu F, Ikinciogullari A, Unal E, Baris S, Eken A. Azizoglu ZB, et al. J Clin Immunol. 2024 Nov 16;45(1):43. doi: 10.1007/s10875-024-01832-4. J Clin Immunol. 2024. PMID: 39547966 Free PMC article. No abstract available.
LTβR deficiency causes lymph node aplasia and impaired B cell differentiation.
Ransmayr B, Bal SK, Thian M, Svaton M, van de Wetering C, Hafemeister C, Segarra-Roca A, Block J, Frohne A, Krolo A, Altunbas MY, Bilgic-Eltan S, Kıykım A, Aydiner O, Kesim S, Inanir S, Karakoc-Aydiner E, Ozen A, Aba Ü, Çomak A, Tuğcu GD, Pazdzior R, Huber B, Farlik M, Kubicek S, von Bernuth H, Simonitsch-Klupp I, Rizzi M, Halbritter F, Tumanov AV, Kraakman MJ, Metin A, Castanon I, Erman B, Baris S, Boztug K. Ransmayr B, et al. Among authors: karakoc aydiner e. Sci Immunol. 2024 Nov 22;9(101):eadq8796. doi: 10.1126/sciimmunol.adq8796. Epub 2024 Nov 22. Sci Immunol. 2024. PMID: 39576873
Ruxolitinib treatment ameliorates clinical, immunologic, and transcriptomic aberrations in patients with STAT3 gain-of-function disease.
Bayram Catak F, Catak MC, Babayeva R, Toubia J, Warnock NI, Celmeli F, Hafizoglu D, Yakici N, Kayaoglu B, Surucu N, Yalcin Gungoren E, Can S, Yorgun Altunbas M, Karakus IS, Kiykim A, Orhan F, Bilgic Eltan S, Karakoc-Aydiner E, Ozen A, Erman B, Gursel M, Kok CH, Cildir G, Baris S. Bayram Catak F, et al. Among authors: karakoc aydiner e. J Allergy Clin Immunol. 2025 Mar;155(3):784-791. doi: 10.1016/j.jaci.2024.11.032. Epub 2024 Dec 2. J Allergy Clin Immunol. 2025. PMID: 39631446
Multiomics dissection of human RAG deficiency reveals distinctive patterns of immune dysregulation but a common inflammatory signature.
Bosticardo M, Dobbs K, Delmonte OM, Martins AJ, Pala F, Kawai T, Kenney H, Magro G, Rosen LB, Yamazaki Y, Yu HH, Calzoni E, Lee YN, Liu C, Stoddard J, Niemela J, Fink D, Castagnoli R, Ramba M, Cheng A, Riley D, Oikonomou V, Shaw E, Belaid B, Keles S, Al-Herz W, Cancrini C, Cifaldi C, Baris S, Sharapova S, Schuetz C, Gennery AR, Freeman AF, Somech R, Choo S, Giliani SC, Güngör T, Drozdov D, Meyts I, Moshous D, Neven B, Abraham RS, El-Marsafy A, Kanariou M, King A, Licciardi F, Cruz-Muñoz ME, Palma P, Poli C, Adeli M, Algeri M, Alroqi FJ, Bastard P, Bergerson JRE, Booth C, Brett A, Burns SO, Butte MJ, Padem N, de la Morena M, Dbaibo G, de Ravin SS, Dimitrova D, Djidjik R, Dorna MB, Dutmer CM, Elfeky R, Facchetti F, Fuleihan RL, Geha RS, Gonzalez-Granado LI, Haljasmägi L, Ale H, Hayward A, Hifanova AM, Ip W, Kaplan B, Kapoor N, Karakoc-Aydiner E, Kärner J, Keller MD, Dávila Saldaña BJ, Kiykim A, Kuijpers TW, Kuznetsova EE, Latysheva EA, Leiding JW, Locatelli F, Alva-Lozada G, McCusker C, Celmeli F, Morsheimer M, Ozen A, Parvaneh N, Pasic S, Plebani A, Preece K, Prockop S, Sakovich IS, Starkova EE, Torgerson T, Verbsky J, Walter JE, Ward B, Wisner EL, Draper D, Myint-Hpu K, Tru… See abstract for full author list ➔ Bosticardo M, et al. Among authors: karakoc aydiner e. Sci Immunol. 2025 Jan 10;10(103):eadq1697. doi: 10.1126/sciimmunol.adq1697. Epub 2025 Jan 10. Sci Immunol. 2025. PMID: 39792639
Beyond Dermatological Findings: Multisystem Involvement in Prolidase Deficiency.
Gungoren EY, Meric Z, Sefer AP, Deveci Ozkan A, Can S, Babayeva R, Kasap N, Nain E, Ozek Yucel E, Kiykim A, Bilgic-Eltan S, Yucelten AD, Karakoc-Aydiner E, Ozen A, Baris S. Gungoren EY, et al. Among authors: karakoc aydiner e. Turk Arch Pediatr. 2025 Jan 2;60(1):48-56. doi: 10.5152/TurkArchPediatr.2025.24172. Turk Arch Pediatr. 2025. PMID: 39804022 Free PMC article.
Listeria Meningitis as an Indication of Undiagnosed Primary Immune Deficiency, Activated Phosphoinositide 3-Kinase Delta Syndrome: A Case Report.
Canizci Erdemli P, Öcal Demir S, Bozkurt S, Aslan Tuncay S, Yilmaz S, Parlak B, Dizi Işik A, Büyüktaş Aytaç D, Abaci Çapar MÇ, Ergenç Z, Atalay AS, Gökçe İ, Karakoc-Aydiner E, Özen A, Kepenekli E, Akkoç G. Canizci Erdemli P, et al. Among authors: karakoc aydiner e. Pediatr Infect Dis J. 2025 Jan 30. doi: 10.1097/INF.0000000000004737. Online ahead of print. Pediatr Infect Dis J. 2025. PMID: 39889727
Clinical and Immunological Prognostic Factors With Novel Variants in a Large Cohort of Diacylglycerol Acyltransferase 1 Deficiency.
Yorgun Altunbas M, Kogler H, Abolhassani H, Akkus E, Basturk A, Akkelle E, Sayar E, Polat E, Kara A, Can S, Frohne A, Segarra-Roca A, Jimenez-Heredia R, Babayeva R, Sefer AP, Kiykim A, Bilgic Eltan S, Karakoc-Aydiner E, Ozen A, Beser OF, Boztug K, Rezaei N, Baris S. Yorgun Altunbas M, et al. Among authors: karakoc aydiner e. J Allergy Clin Immunol Pract. 2025 Mar 26:S2213-2198(25)00277-6. doi: 10.1016/j.jaip.2025.03.026. Online ahead of print. J Allergy Clin Immunol Pract. 2025. PMID: 40154740
The Discrepancy Between Perceived and Proven Drug Hypersensitivity in a Well-Defined Cohort of Patients With Inborn Errors of Immunity.
Bilgic-Eltan S, Karakurt T, Yuksel RG, Yalaki AI, Durankus F, Dut R, Altun EZ, Aygun B, Kacar D, Senkal E, Sefer Arinc AP, Gurel BA, Baris S, Arga M, Ozen AO, Karakoc-Aydiner E, Cavkaytar O. Bilgic-Eltan S, et al. Among authors: karakoc aydiner e. Allergy. 2025 Apr 29. doi: 10.1111/all.16570. Online ahead of print. Allergy. 2025. PMID: 40298338
Defects along the T(H)17 differentiation pathway underlie genetically distinct forms of the hyper IgE syndrome.
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Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations.
Thalhammer J, Kindle G, Nieters A, Rusch S, Seppänen MRJ, Fischer A, Grimbacher B, Edgar D, Buckland M, Mahlaoui N, Ehl S; European Society for Immunodeficiencies Registry Working Party. Thalhammer J, et al. J Allergy Clin Immunol. 2021 Nov;148(5):1332-1341.e5. doi: 10.1016/j.jaci.2021.04.015. Epub 2021 Apr 23. J Allergy Clin Immunol. 2021. PMID: 33895260 Free article.
Congenital iRHOM2 deficiency causes ADAM17 dysfunction and environmentally directed immunodysregulatory disease.
Kubo S, Fritz JM, Raquer-McKay HM, Kataria R, Vujkovic-Cvijin I, Al-Shaibi A, Yao Y, Zheng L, Zou J, Waldman AD, Jing X, Farley TK, Park AY, Oler AJ, Charles AK, Makhlouf M, AbouMoussa EH, Hasnah R, Saraiva LR, Ganesan S, Al-Subaiey AA, Matthews H, Flano E, Lee HH, Freeman AF, Sefer AP, Sayar E, Çakır E, Karakoc-Aydiner E, Baris S, Belkaid Y, Ozen A, Lo B, Lenardo MJ. Kubo S, et al. Nat Immunol. 2022 Jan;23(1):75-85. doi: 10.1038/s41590-021-01093-y. Epub 2021 Dec 22. Nat Immunol. 2022. PMID: 34937930 Free PMC article. Clinical Trial.
Mechanisms of mRNA processing defects in inherited THOC6 intellectual disability syndrome.
Werren E, LaForce G, Srivastava A, Perillo D, Johnson K, Berger B, Regan S, Pfennig C, Baris S, de Munnik S, Pfundt R, Hebbar M, Jimenez Heredia R, Karakoc-Aydiner E, Ozen A, Dmytrus J, Krolo A, Corning K, Prijoles E, Louie R, Lebel R, Le TL, Amiel J, Gordon C, Boztug K, Girisha K, Shukla A, Bielas S, Schaffer A. Werren E, et al. Res Sq [Preprint]. 2023 Sep 6:rs.3.rs-2126145. doi: 10.21203/rs.3.rs-2126145/v1. Res Sq. 2023. Update in: Nat Commun. 2024 Feb 22;15(1):1640. doi: 10.1038/s41467-024-45948-y. PMID: 37720017 Free PMC article. Updated. Preprint.
Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score.
Tesch VK, Abolhassani H, Shadur B, Zobel J, Mareika Y, Sharapova S, Karakoc-Aydiner E, Rivière JG, Garcia-Prat M, Moes N, Haerynck F, Gonzales-Granado LI, Santos Pérez JL, Mukhina A, Shcherbina A, Aghamohammadi A, Hammarström L, Dogu F, Haskologlu S, İkincioğulları AI, Köstel Bal S, Baris S, Kilic SS, Karaca NE, Kutukculer N, Girschick H, Kolios A, Keles S, Uygun V, Stepensky P, Worth A, van Montfrans JM, Peters AMJ, Meyts I, Adeli M, Marzollo A, Padem N, Khojah AM, Chavoshzadeh Z, Avbelj Stefanija M, Bakhtiar S, Florkin B, Meeths M, Gamez L, Grimbacher B, Seppänen MRJ, Lankester A, Gennery AR, Seidel MG; Inborn Errors, Clinical, and Registry Working Parties of the European Society for Blood and Marrow Transplantation and the European Society for Immunodeficiencies. Tesch VK, et al. J Allergy Clin Immunol. 2020 May;145(5):1452-1463. doi: 10.1016/j.jaci.2019.12.896. Epub 2019 Dec 27. J Allergy Clin Immunol. 2020. PMID: 31887391 Free article.
Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome.
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Neonatal BCG vaccination induces IL-10 production by CD4+ CD25+ T cells.
Akkoc T, Aydogan M, Yildiz A, Karakoc-Aydiner E, Eifan A, Keles S, Akin M, Kavuncuoglu S, Bahceciler NN, Barlan IB. Akkoc T, et al. Pediatr Allergy Immunol. 2010 Nov;21(7):1059-63. doi: 10.1111/j.1399-3038.2010.01051.x. Pediatr Allergy Immunol. 2010. PMID: 20977501 Clinical Trial.
The association of milk and multiple food avoidance with growth parameters in infants and children.
Sackesen C, Buyuktiryaki B, Gokce T, Gogebakan E, Gundogdu BS, Eltan SB, Karakoc-Aydiner E, Yilmaz EA, Can C, Cengiz H, Unlugedik O, Celik N, Incir S, Mutlu GY, Yildirim D, Ozel HG, Hatun S. Sackesen C, et al. Ann Allergy Asthma Immunol. 2024 Jun;132(6):745-751.e2. doi: 10.1016/j.anai.2024.02.023. Epub 2024 Mar 4. Ann Allergy Asthma Immunol. 2024. PMID: 38447665
Comprehensive αβ T-Cell Receptor Repertoire Analysis Reveals a Unique CD8+ TCR Landscape in DOCK8-Deficient Patients.
Bozkurt C, Cildir G, Aba U, Erdogan RK, Warnock NI 1st, Kok CH, Sefer AP, Haskologlu S, Tekeoglu SD, Kılınç GM, Ipsir C, Arikoglu T, Ozhan AK, Esenboga S, Özen A, Karakoç-Aydiner E, Eltan SB, Aydogmus Ç, Islamoglu C, Baskın K, Karaatmaca B, Metin A, Çagdaş D, Dogu F, Ikinciogullari A, Baris S, Erman B. Bozkurt C, et al. Among authors: karakoc aydiner e. Allergy. 2025 May 10. doi: 10.1111/all.16580. Online ahead of print. Allergy. 2025. PMID: 40346988