Publications
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.
2014
JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia.
Boztug K,
Järvinen PM,
Salzer E,
Racek T,
Mönch S,
Garncarz W,
Gertz EM,
Schäffer AA,
Antonopoulos A,
Haslam SM,
Schieck L,
Puchałka J,
Diestelhorst J,
Appaswamy G,
Lescoeur B,
Giambruno R,
Bigenzahn JW,
Elling U,
Pfeifer D,
Conde CD,
Albert MH,
Welte K,
Brandes G,
Sherkat R,
van der Werff Ten Bosch J,
Rezaei N,
Etzioni A,
Bellanné-Chantelot C,
Superti-Furga G,
Penninger JM,
Bennett KL,
von Blume J,
Dell A,
Donadieu J,
Klein C.
Nat Genet. 2014 Sep;46(9):1021-7. doi: 10.1038/ng.3069. Epub 2014 Aug 17.
2014
Inflammatory Bowel Disease With Lethal Disease Course Caused By A Nonsense Mutation in BIRC4 Encoding X-linked Inhibitor of Apoptosis Protein (XIAP).
Beşer OF,
Conde CD,
Kutlu T,
Cokuğraş FC,
Boztuğ K,
Erkan T.
J Pediatr Gastroenterol Nutr. 2014 Jul 11. [Epub ahead of print]
