Publications
2015
Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies.
Ma CS,
Wong N,
Rao G,
Avery DT,
Torpy J,
Hambridge T,
Bustamante J,
Okada S,
Stoddard JL,
Deenick EK,
Pelham SJ,
Payne K,
Boisson-Dupuis S,
Puel A,
Kobayashi M,
Arkwright PD,
Kilic SS,
El Baghdadi J,
Nonoyama S,
Minegishi Y,
Mahdaviani SA,
Mansouri D,
Bousfiha A,
Blincoe AK,
French MA,
Hsu P,
Campbell DE,
Stormon MO,
Wong M,
Adelstein S,
Smart JM,
Fulcher DA,
Cook MC,
Phan TG,
Stepensky P,
Boztug K,
Kansu A,
_kincio_ullari A,
Baumann U,
Beier R,
Roscioli T,
Ziegler JB,
Gray P,
Picard C,
Grimbacher B,
Warnatz K,
Holland SM,
Casanova JL,
Uzel G,
Tangye SG.
J Allergy Clin Immunol. 2015 Jul 7. pii: S0091-6749(15)00787-3. doi: 10.1016/j.jaci.2015.05.036.
2015
Combined immunodeficiency with CD4 lymphopenia and sclerosing cholangitis caused by a novel loss-of-function mutation affecting IL21R.
Erman B,
Bilic I,
Hirschmugl T,
Salzer E,
Çagdas D,
Esenboga S,
Akcoren Z,
Sanal O,
Tezcan I,
Boztug K.
Haematologica. 2015 Jun;100(6):e216-9. doi: 10.3324/haematol.2014.120980. Epub 2015 Mar 13.
2015
Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections.
Dobbs K,
Domínguez Conde C,
Zhang SY,
Parolini S,
Audry M,
Chou J,
Haapaniemi E,
Keles S,
Bilic I,
Okada S,
Massaad MJ,
Rounioja S,
Alwahadneh AM,
Serwas NK,
Capuder K,
Çiftçi E,
Felgentreff K,
Ohsumi TK,
Pedergnana V,
Boisson B,
Haskolo_lu _,
Ensari A,
Schuster M,
Moretta A,
Itan Y,
Patrizi O,
Rozenberg F,
Lebon P,
Saarela J,
Knip M,
Petrovski S,
Goldstein DB,
Parrott RE,
Savas B,
Schambach A,
Tabellini G,
Bock C,
Chatila TA,
Comeau AM,
Geha RS,
Abel L,
Buckley RH,
_kincio_ulları A,
Al-Herz W,
Helminen M,
Do_u F,
Casanova JL,
Boztu_ K,
Notarangelo LD.
N Engl J Med. 2015 Jun 18;372(25):2409-22. doi: 10.1056/NEJMoa1413462.
2015
Atypical manifestation of LRBA deficiency with predominant IBD-like phenotype.
Serwas NK,
Kansu A,
Santos-Valente E,
Kulo_lu Z,
Demir A,
Yaman A,
Yaneth Gamez Diaz L,
Artan R,
Sayar E,
Ensari A,
Grimbacher B,
Boztug K.
Inflamm Bowel Dis. 2015 Jan;21(1):40-7. doi: 10.1097/MIB.0000000000000266.
2014
A novel immunodeficiency syndrome associated with partial trisomy 19p13.
Seidel MG,
Duerr C,
Woutsas S,
Schwerin-Nagel A,
Sadeghi K,
Neesen J,
Uhrig S,
Santos-Valente E,
Pickl WF,
Schwinger W,
Urban C,
Boztug K*,
Förster-Waldl E*.
J Med Genet. 2014 Apr;51(4):254-63. doi: 10.1136/jmedgenet-2013-102122. Epub 2014 Jan 15. (*equal contributing authors)
2014
Early-onset inflammatory bowel disease and common variable immunodeficiency-like disease caused by IL-21 deficiency.
Salzer E,
Kansu A,
Sic H,
Májek P,
Ikincioğullari A,
Dogu FE,
Prengemann NK,
Santos-Valente E,
Pickl WF,
Bilic I,
Ban SA,
Kuloğlu Z,
Demir AM,
Ensari A,
Colinge J,
Rizzi M,
Eibel H,
Boztug K.
J Allergy Clin Immunol. 2014 Jun;133(6):1651-9.e12. doi: 10.1016/j.jaci.2014.02.034. Epub 2014 Apr 17.
2014
Jagunal homolog 1 is a critical regulator of neutrophil function in fungal host defense.
Wirnsberger G,
Zwolanek F,
Stadlmann J,
Tortola L,
Liu SW,
Perlot T,
Järvinen P,
Dürnberger G,
Kozieradzki I,
Sarao R,
De Martino A,
Boztug K,
Mechtler K,
Kuchler K,
Klein C,
Elling U,
Penninger JM.
Nat Genet. 2014 Sep;46(9):1028-33. doi: 10.1038/ng.3070. Epub 2014 Aug 17.
2014
PKCδ is dispensible for oxLDL uptake and foam cell formation by human and murine macrophages.
Szilagyi K,
Meijer AB,
Neele AE,
Verkuijlen P,
Leitges M,
Dabernat S,
Förster-Waldl E,
Boztug K,
Belot A,
Kuijpers TW,
Kraal G,
de Winther MP,
van den Berg TK.
Cardiovasc Res. 2014 Sep 24. pii: cvu213.
2014
Identification of ITK deficiency as a novel genetic cause of idiopathic CD4+ T-cell lymphopenia.
Serwas NK,
Cagdas D,
Ban SA,
Bienemann K,
Salzer E,
Tezcan I,
Borkhardt A,
Sanal O,
Boztug K.
Blood. 2014 Jul 24;124(4):655-7. doi: 10.1182/blood-2014-03-564930.
2014
Early-onset inflammatory bowel disease and common variable immunodeficiency-like disease caused by IL-21 deficiency.
Salzer E,
Kansu A,
Sic H,
Májek P,
Ikincioğullari A,
Dogu FE,
Prengemann NK,
Santos-Valente E,
Pickl WF,
Bilic I,
Ban SA,
Kuloğlu Z,
Demir AM,
Ensari A,
Colinge J,
Rizzi M,
Eibel H,
Boztug K.
J Allergy Clin Immunol. 2014 Jun;133(6):1651-9.e12. doi: 10.1016/j.jaci.2014.02.034. Epub 2014 Apr 17.
