Publications
2015
Inflammatory bowel disease phenotype in a young girl with prolidase deficiency: A new spectrum of clinical manifestation.
Kuloglu Z,
Kansu A,
Serwas N,
Demir A,
Yaman A,
Ensari A,
Boztug K.
Impaired microbial killing by neutrophils from patients with protein kinase C delta deficiency. Genet Couns. 2015;26(2):205-11.
2015
Trichuris suis induces human non-classical patrolling monocytes via the mannose receptor and PKC: implications for multiple sclerosis.
Kooij G,
Braster R,
Koning JJ,
Laan LC,
van Vliet SJ,
Los T,
Eveleens AM,
van der Pol SM,
Förster-Waldl E,
Boztug K,
Belot A,
Szilagyi K,
van den Berg TK,
van Buul JD,
van Egmond M,
de Vries HE,
Cummings RD,
Dijkstra CD,
van Die I.
Acta Neuropathol Commun. 2015 Jul 25;3:45. doi: 10.1186/s40478-015-0223-1.
2015
Potentially Beneficial Effect of Hydroxychloroquine in a Patient with a Novel Mutation in Protein Kinase Cδ Deficiency.
Kiykim A,
Ogulur I,
Baris S,
Salzer E,
Karakoc-Aydiner E,
Ozen AO,
Garncarz W,
Hirschmugl T,
Krolo A,
Yucelten AD,
Boztug K,
Barlan IB.
J Clin Immunol. 2015 Aug;35(6):523-6. doi: 10.1007/s10875-015-0178-9. Epub 2015 Aug 2.
2015
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.
J Pediatr Hematol Oncol. 2015 Nov;37(8):616-22. doi: 10.1097/MPH.0000000000000441.
2015
Clinical features of interleukin 10 receptor gene mutations in children with very early-onset inflammatory bowel disease.
Beser OF,
Conde CD,
Serwas NK,
Cokugras FC,
Kutlu T,
Boztug K,
Erkan T.
J Pediatr Gastroenterol Nutr. 2015 Mar;60(3):332-8. doi: 10.1097/MPG.0000000000000621.
2015
Novel mutations in TNFRSF7/CD27: Clinical, immunologic, and genetic characterization of human CD27 deficiency.
Alkhairy OK,
Perez-Becker R,
Driessen GJ,
Abolhassani H,
van Montfrans J,
Borte S,
Choo S,
Wang N,
Tesselaar K,
Fang M,
Bienemann K,
Boztug K,
Daneva A,
Mechinaud F,
Wiesel T,
Becker C,
Dückers G,
Siepermann K,
van Zelm MC,
Rezaei N,
van der Burg M,
Aghamohammadi A,
Seidel MG,
Niehues T,
Hammarström L.
J Allergy Clin Immunol. 2015 Apr 2. pii: S0091-6749(15)00271-7. doi: 10.1016/j.jaci.2015.02.022.
2015
Hypomorphic mutation in TTC7A causes combined immunodeficiency with mild structural intestinal defects.
Woutsas S,
Aytekin C,
Salzer E,
Conde CD,
Apaydin S,
Pichler H,
Memaran-Dadgar N,
Hosnut FO,
Förster-Waldl E,
Matthes S,
Huber WD,
Lion T,
Holter W,
Bilic I,
Boztug K.
Blood. 2015 Mar 5;125(10):1674-6. doi: 10.1182/blood-2014-08-595397.
2015
ITK deficiency: How can EBV be treated before lymphoma? Pediatr Blood Cancer.
Cipe FE,
Aydogmus C,
Serwas NK,
Tu_cu D,
Demirkaya M,
Biçici FA,
Hocaoglu AB,
Do_u F,
Boztu_ K.
2015 Jul 14. doi: 10.1002/pbc.25648.
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.
