Publications
2019
Early-onset inflammatory bowel disease as a model disease to identify key regulators of immune homeostasis mechanisms.
Pazmandi J,
Kalinichenko A,
Ardy RC,
Boztug K.
Immunol Rev. 2019 Jan;287(1):162-185. doi: 10.1111/imr.12726. Review.
2019
PD-L1 and PD1 expression in post-transplantation lymphoproliferative disease (PTLD) of childhood and adolescence: An inter- and intra-individual descriptive study covering the whole spectrum of PTLD categories.
Schiefer AI,
Salzer E,
Füreder A,
Szepfalusi Z,
Müller-Sacherer T,
Huber WD,
Michel-Behnke I,
Lawitschka A,
Pichler H,
Mann G,
Hutter C,
Simonitsch-Klupp I,Attarbaschi A.
Cancer Med. 2019 Jul 3. doi: 10.1002/cam4.2394. [Epub ahead of print]
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.
