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Kaan Boztug

Kaan Boztug

Genome-Based Precision Medicine for Childhood Immune and Hematological Diseases

Publications

2020

The cytoskeletal regulator HEM1 governs B cell development and prevents autoimmunity.

Salzer E, Zoghi S, Kiss MG, Kage F, Rashkova C, Stahnke S, Haimel M, Platzer R, Caldera M, Ardy RC, Hoeger B, Block J, Medgyesi D, Sin C, Shahkarami S, Kain R, Ziaee V, Hammerl P, Bock C, Menche J, Dupré L, Huppa JB, Sixt M, Lomakin A, Rottner K, Binder CJ, Stradal TEB, Rezaei N, Boztug K.
Sci Immunol. 2020 Jul 10;5(49):eabc3979. doi: 10.1126/sciimmunol.abc3979.
2020

CD70 Deficiency Associated With Chronic Epstein-Barr Virus Infection, Recurrent Airway Infections and Severe Gingivitis in a 24-Year-Old Woman.

Krüger R, Martin E, Dmytrus J, Feiterna-Sperling C, Meisel C, Unterwalder N, Kölsch U, Wahn V, Hofmann J, Korn P, Latour S, Boztug K, von Bernuth H.
Front Immunol. 2020 Aug 4;11:1593. doi: 10.3389/fimmu.2020.01593.
2020

Treatment and management of primary antibody deficiency: German interdisciplinary evidence-based consensus guideline.

Hanitsch L, Baumann U, Boztug K, Burkhard-Meier U, Fasshauer M, Habermehl P, Hauck F, Klock G, Liese J, Meyer O, Müller R, Pachlopnik-Schmid J, Pfeiffer- Kascha D, Warnatz K, Wehr C, Wittke K, Niehues T, von Bernuth H.
Eur J Immunol. 2020 Oct;50(10):1432-1446. doi: 10.1002/eji.202048713. Epub 2020 Sep 9.
2020

Germline biallelic PIK3CG mutations in a multifaceted immunodeficiency with immune dysregulation.

Thian M, Hoeger B, Kamnev A, Poyer F, Köstel Bal S, Caldera M, Jiménez-Heredia R, Huemer J, Pickl WF, Groß M, Ehl S, Lucas CL, Menche J, Hutter C, Attarbaschi A, Dupré L, Boztug K.
Haematologica. 2020 Oct 1;105(10):e488. doi: 10.3324/haematol.2019.231399.
2020

Novel Frameshift Autosomal Recessive Loss-of-Function Mutation in SMARCD2 Encoding a Chromatin Remodeling Factor Mediates Granulopoiesis.

Yucel E, Karakus IS, Krolo A, Kiykim A, Heredia RJ, Tamay Z, Cipe FE, Karakoc-Aydiner E, Ozen A, Karaman S, Boztug K, Baris S.
J Clin Immunol. 2021 Jan;41(1):59-65. doi: 10.1007/s10875-020-00878-4. Epub 2020 Oct 6.
2020

The nucleus acts as a ruler tailoring cell responses to spatial constraints.

Lomakin AJ, Cattin CJ, Cuvelier D, Alraies Z, Molina M, Nader GPF, Srivastava N, Sáez PJ, Garcia-Arcos JM, Zhitnyak IY, Bhargava A, Driscoll MK, Welf ES, Fiolka R, Petrie RJ, De Silva NS, González-Granado JM, Manel N, Lennon- Duménil AM, Müller DJ, Piel M.
Science. 2020 Oct 16;370(6514):eaba2894. doi: 10.1126/science.aba2894.
2020

Adenosine Deaminase Type II Deficiency: Severe Chronic Neutropenia, Lymphoid Infiltration in Bone Marrow, and Inflammatory Features.

Süleyman M, Tan Ç, Uner A, İnkaya Ç, Aytaç S, Büyükaşık Y, Boztug K, Tezcan İ, Cagdas D.
Immunol Invest. 2020 Dec 2:1-9. doi: 10.1080/08820139.2020.1853153. Epub ahead of print.
2020

Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency.

Ghosh S, Köstel Bal S, Edwards ESJ, Pillay B, Jiménez Heredia R, Erol Cipe F, Rao G, Salzer E, Zoghi S, Abolhassani H, Momen T, Gostick E, Price DA, Zhang Y, Oler AJ, Gonzaga-Jauregui C, Erman B, Metin A, Ilhan I, Haskologlu S, Islamoglu C, Baskin K, Ceylaner S, Yilmaz E, Unal E, Karakukcu M, Berghuis D, Cole T, Gupta AK, Hauck F, Kogler H, Hoepelman AIM, Baris S, Karakoc-Aydiner E, Ozen A, Kager L, Holzinger D, Paulussen M, Krüger R, Meisel R, Oommen PT, Morris E, Neven B, Worth A, van Montfrans J, Fraaij PLA, Choo S, Dogu F, Davies EG, Burns S, Dückers G, Becker RP, von Bernuth H, Latour S, Faraci M, Gattorno M, Su HC, Pan-Hammarström Q, Hammarström L, Lenardo MJ, Ma CS, Niehues T, Aghamohammadi A, Rezaei N, Ikinciogullari A, Tangye SG, Lankester AC, Boztug K.
Blood. 2020 Dec 3;136(23):2638-2655. doi: 10.1182/blood.2020006738.
2020

BCGitis as the primary manifestation of chronic granulomatous disease.

Khalili N, Mohammadzadeh I, Khalili N, Heredia RJ, Zoghi S, Boztug K, Rezaei N.
IDCases. 2020 Dec 29;23:e01038. doi: 10.1016/j.idcr.2020.e01038.
2020

Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency.

Ghosh S, Köstel Bal S, Edwards E S J, Pillay B, Jimenez-Heredia R, Rao G, Erol Cipe F, Salzer E, Zoghi S, Abolhassani H, Momen T, Gostick E, Price D A, Zhang Y, Oler A J, Gonzaga-Jauregui C, Erman B, Metin A, Ilhan I, Haskologlu S, Islamoglu C, Baskin K, Ceylaner S, Yilmaz E, Unal E, Karakukcu M, Berghuis D, Cole T, Kumar Gupta A, Hauck F, Hoepelman A, Baris S, Karakoc-Aydiner E, Ozen A, Kager L, Holzinger D, Paulussen M, Krüger, R, Meisel R, Thomas Oommen P, Morris E C, Neven B, Worth A J J, van Montfrans J M, Fraaij P, Choo S, Dogu F, Davies E G, Burns S, Dueckers G, Perez Becker R, von Bernuth H, Latour S, Faraci M, Gattorno M, Su H, Pan-Hammarström, Q, Hammarström L, Lenardo M J, Ma C S, Niehues T, Aghamohammadi A, Rezaei N, Ikinciogullari A, Tangye S G, Lankester A C, Boztug K.
Blood. 2020 Dec 3;136(23):2638-2655. Doi: 10.1182/blood.2020006738.