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Kaan Boztug

Kaan Boztug

Genombasierte Präzisionsmedizin für kindliche Immun- und Bluterkrankungen

Publications

2019

Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis.

Serwas NK, Hoeger B, Ardy RC, Stulz SV, Sui Z, Memaran N, Meeths M, Krolo A, Yüce Petronczki Ö, Pfajfer L, Hou TZ, Halliday N, Santos-Valente E, Kalinichenko A, Kennedy A, Mace EM, Mukherjee M, Tesi B, Schrempf A, Loizou JI, Kain R,Bidmon-Fliegenschnee B, Schickel JN, Glauzy S, Huemer J, Garncarz W, Salzer E,Pierides I, Bilic I, Thiel J, Priftakis P, Banerjee PP, Förster-Waldl E, MedgyesiD, Huber WD, Orange JS, Meffre E, Sansom DM, Bryceson YT, Altman A, Boztug K.
Nat Commun. 2019 Jul 15;10(1):3106.doi: 10.1038/s41467-019-10812-x.
2019

A Novel Recessive Mutation of Interferon-γ Receptor 1 in a Patient with Mycobacterium tuberculosis in Bone Marrow Aspirate.

Shabani M, Aleyasin S, Kashef S, Zoghi S, Deswarte C, Casanova JL, BustamanteJ, Rezaei N.
J Clin Immunol. 2019Feb;39(2):127-130. doi: 10.1007/s10875-019-00595-7. Epub 2019 Feb 5.
2019

Selective loss of function variants in IL6ST cause Hyper-IgE syndrome with distinct impairments of T-cell phenotype and function.

Shahin T, Aschenbrenner D, Cagdas D, Bal SK, Conde CD, Garncarz W, MedgyesiD, Schwerd T, Karaatmaca B, Cetinkaya PG, Esenboga S, Twigg SRF, Cant A, WilkieAOM, Tezcan I, Uhlig HH, Boztug K.
Haematologica. 2019 Mar;104(3):609-621. doi:10.3324/haematol.2018.194233. Epub 2018 Oct 11.
2019

Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses.

Spencer S, Köstel Bal S, Egner W, Lango Allen H, Raza SI, Ma CA, Gürel M,Zhang Y, Sun G, Sabroe RA, Greene D, Rae W, Shahin T, Kania K, Ardy RC, Thian M, Staples E, Pecchia-Bekkum A, Worrall WPM, Stephens J, Brown M, Tuna S, York M,Shackley F, Kerrin D, Sargur R, Condliffe A, Tipu HN, Kuehn HS, Rosenzweig SD,Turro E, Tavaré S, Thrasher AJ, Jodrell DI, Smith KGC, Boztug K, Milner JD,Thaventhiran JED.
J Exp Med. 2019 Jun 24. pii:jem.20190344. doi: 10.1084/jem.20190344. [Epub ahead of print]
2019

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, SchuetzC, 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, DbaiboG, 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, ChandrakasanS, 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.
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.
2019

Activating mutations in PIK3CD disrupt the differentiation and function of human and murine CD4(+) T cells.

Bier J, Rao G, Payne K, Brigden H, French E, Pelham SJ, Lau A, Lenthall H,Edwards ESJ, Smart JM, Cole TS, Choo S, Joshi AY, Abraham RS, O'Sullivan M, Boztug K, Meyts I, Gray PE, Berglund LJ, Hsu P, Wong M, Holland SM, NotarangeloLD, Uzel G, Ma CS, Brink R, Tangye SG, Deenick EK.
JAllergy Clin Immunol. 2019 Jul;144(1):236-253. doi: 10.1016/j.jaci.2019.01.033.Epub 2019 Feb 6.
2019

Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

Downes K, Megy K, Duarte D, Vries M, Gebhart J, Hofer S, Shamardina O, Deevi SVV, Stephens J, Mapeta R, Tuna S, Al Hasso N, Besser MW, Cooper N, Daugherty L, Gleadall N, Greene D, Haimel M, Martin H, Papadia S, Revel-Vilk S, Sivapalaratnam S, Symington E, Thomas W, Thys C, Tolios A, Penkett CJ; NIHR BioResource, Ouwehand WH, Abbs S, Laffan MA, Turro E, Simeoni I, Mumford AD, Henskens YMC, Pabinger I, Gomez K, Freson K.
Blood. 2019 Dec 5;134(23):2082-2091. doi: 10.1182/blood.2018891192.
2019

Development of multiple gallstones in a child with lipopolysaccharide-responsive beige-like anchor protein mutation.

Kutluǧ Ş, Boztuǧ K, Yıldıran A.
Cent Eur J Immunol. 2019;44(3):332-335. doi: 10.5114/ceji.2019.89613.
2019

Unreported Missense Mutation in the Dimerization Domain of ADA2 Leads to ADA2 Deficiency Associated with Severe Oral Ulcers and Neutropenia in a Female Somalian Patient-Addendum to the Genotype-Phenotype Puzzle.

Göschl L, Winkler S, Dmytrus J, Heredia RJ, Lagler H, Ramharter M, Scheinecker C, Bonelli M, Schmetterer K, Pickl WF, Grabmeier-Pfistershammer K, Hershfield MS, Boztug K, Förster-Waldl E, Gualdoni GA.
J Clin Immunol. 2019 Nov 4. doi: 10.1007/s10875-019-00700-w.
2019

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, Bal SK, 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, Stefanija MA, Bakhtiar S, Florkin B, Meeths M, Gamez L, Grimbacher B, Seppänen MR, Lankester A, Gennery AR, Seidel MG; Inborn Errors, Clinical, and Registry Working Parties of the European Society for Blood and Marrow Transplantation (EBMT) and the European Society of Immunodeficiencies (ESID).
J Allergy Clin Immunol. 2019 Dec 27. pii: S0091-6749(19)32603-X. doi: 10.1016/j.jaci.2019.12.896.