The Clinical and Genetic Spectrum of 82 Patients WithRAGDeficiency Including a c.256_257delAA Founder Variant in Slavic Countries

SO Sharapova; M Skomska-Pawliszak; YA Rodina; B Wolska-Kusnierz; N Dabrowska-Leonik; B Mikoluc; OE Pashchenko; S Pasic; T Freiberger; T Milota; R Formankova; A Szaflarska; M Siedlar; T Avcin; G Markelj; P Ciznar; K Kalwak; S Kottan; T Jackowska; K Drabko; A Gagro; M Pac; E Naumova; S Kandilarova; K Babol-Pokora; DS Varabyou; Barbara Barendregt; EV Raykina; TV Varlamova; AV Pavlova; H Grombirikova; M Debeljak; IV Mersiyanova; AV Bondarenko; LI Chernyshova; LV Kostyuchenko; MN Guseva; J Rascon; A Muleviciene; E Preiksaitiene; CB Geier; A Leiss-Piller; Y Yamazaki; T Kawai; JE Walter; IV Kondratenko; A Sediva; Mirjam van der Burg; NB Kuzmenko; LD Notarangelo; E Bernatowska; OV Aleinikova

doi:10.3389/fimmu.2020.00900

The Clinical and Genetic Spectrum of 82 Patients WithRAGDeficiency Including a c.256_257delAA Founder Variant in Slavic Countries

SO Sharapova, M Skomska-Pawliszak, YA Rodina, B Wolska-Kusnierz, N Dabrowska-Leonik, B Mikoluc, OE Pashchenko, S Pasic, T Freiberger, T Milota, R Formankova, A Szaflarska, M Siedlar, T Avcin, G Markelj, P Ciznar, K Kalwak, S Kottan, T Jackowska, K DrabkoA Gagro, M Pac, E Naumova, S Kandilarova, K Babol-Pokora, DS Varabyou, Barbara Barendregt, EV Raykina, TV Varlamova, AV Pavlova, H Grombirikova, M Debeljak, IV Mersiyanova, AV Bondarenko, LI Chernyshova, LV Kostyuchenko, MN Guseva, J Rascon, A Muleviciene, E Preiksaitiene, CB Geier, A Leiss-Piller, Y Yamazaki, T Kawai, JE Walter, IV Kondratenko, A Sediva, Mirjam van der Burg, NB Kuzmenko, LD Notarangelo, E Bernatowska, OV Aleinikova

Immunology

Research output: Contribution to journal › Article › Academic

15 Citations (Scopus)

23 Downloads (Pure)

Original language	English
Article number	900
Journal	Frontiers in Immunology
Volume	11
DOIs	https://doi.org/10.3389/fimmu.2020.00900
Publication status	Published - 2020

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EMC MM-02-72-02
EMC OR-01

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10.3389/fimmu.2020.00900

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http://hdl.handle.net/1765/128205

Cite this

Sharapova, SO., Skomska-Pawliszak, M., Rodina, YA., Wolska-Kusnierz, B., Dabrowska-Leonik, N., Mikoluc, B., Pashchenko, OE., Pasic, S., Freiberger, T., Milota, T., Formankova, R., Szaflarska, A., Siedlar, M., Avcin, T., Markelj, G., Ciznar, P., Kalwak, K., Kottan, S., Jackowska, T., ... Aleinikova, OV. (2020). The Clinical and Genetic Spectrum of 82 Patients WithRAGDeficiency Including a c.256_257delAA Founder Variant in Slavic Countries. Frontiers in Immunology, 11, Article 900. https://doi.org/10.3389/fimmu.2020.00900

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title = "The Clinical and Genetic Spectrum of 82 Patients WithRAGDeficiency Including a c.256_257delAA Founder Variant in Slavic Countries",

author = "SO Sharapova and M Skomska-Pawliszak and YA Rodina and B Wolska-Kusnierz and N Dabrowska-Leonik and B Mikoluc and OE Pashchenko and S Pasic and T Freiberger and T Milota and R Formankova and A Szaflarska and M Siedlar and T Avcin and G Markelj and P Ciznar and K Kalwak and S Kottan and T Jackowska and K Drabko and A Gagro and M Pac and E Naumova and S Kandilarova and K Babol-Pokora and DS Varabyou and Barbara Barendregt and EV Raykina and TV Varlamova and AV Pavlova and H Grombirikova and M Debeljak and IV Mersiyanova and AV Bondarenko and LI Chernyshova and LV Kostyuchenko and MN Guseva and J Rascon and A Muleviciene and E Preiksaitiene and CB Geier and A Leiss-Piller and Y Yamazaki and T Kawai and JE Walter and IV Kondratenko and A Sediva and {van der Burg}, Mirjam and NB Kuzmenko and LD Notarangelo and E Bernatowska and OV Aleinikova",

year = "2020",

doi = "10.3389/fimmu.2020.00900",

language = "English",

volume = "11",

journal = "Frontiers in Immunology",

issn = "1664-3224",

publisher = "Frontiers Media SA",

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Sharapova, SO, Skomska-Pawliszak, M, Rodina, YA, Wolska-Kusnierz, B, Dabrowska-Leonik, N, Mikoluc, B, Pashchenko, OE, Pasic, S, Freiberger, T, Milota, T, Formankova, R, Szaflarska, A, Siedlar, M, Avcin, T, Markelj, G, Ciznar, P, Kalwak, K, Kottan, S, Jackowska, T, Drabko, K, Gagro, A, Pac, M, Naumova, E, Kandilarova, S, Babol-Pokora, K, Varabyou, DS, Barendregt, B, Raykina, EV, Varlamova, TV, Pavlova, AV, Grombirikova, H, Debeljak, M, Mersiyanova, IV, Bondarenko, AV, Chernyshova, LI, Kostyuchenko, LV, Guseva, MN, Rascon, J, Muleviciene, A, Preiksaitiene, E, Geier, CB, Leiss-Piller, A, Yamazaki, Y, Kawai, T, Walter, JE, Kondratenko, IV, Sediva, A, van der Burg, M, Kuzmenko, NB, Notarangelo, LD, Bernatowska, E & Aleinikova, OV 2020, 'The Clinical and Genetic Spectrum of 82 Patients WithRAGDeficiency Including a c.256_257delAA Founder Variant in Slavic Countries', Frontiers in Immunology, vol. 11, 900. https://doi.org/10.3389/fimmu.2020.00900

TY - JOUR

T1 - The Clinical and Genetic Spectrum of 82 Patients WithRAGDeficiency Including a c.256_257delAA Founder Variant in Slavic Countries

AU - Sharapova, SO

AU - Skomska-Pawliszak, M

AU - Rodina, YA

AU - Wolska-Kusnierz, B

AU - Dabrowska-Leonik, N

AU - Mikoluc, B

AU - Pashchenko, OE

AU - Pasic, S

AU - Freiberger, T

AU - Milota, T

AU - Formankova, R

AU - Szaflarska, A

AU - Siedlar, M

AU - Avcin, T

AU - Markelj, G

AU - Ciznar, P

AU - Kalwak, K

AU - Kottan, S

AU - Jackowska, T

AU - Drabko, K

AU - Gagro, A

AU - Pac, M

AU - Naumova, E

AU - Kandilarova, S

AU - Babol-Pokora, K

AU - Varabyou, DS

AU - Barendregt, Barbara

AU - Raykina, EV

AU - Varlamova, TV

AU - Pavlova, AV

AU - Grombirikova, H

AU - Debeljak, M

AU - Mersiyanova, IV

AU - Bondarenko, AV

AU - Chernyshova, LI

AU - Kostyuchenko, LV

AU - Guseva, MN

AU - Rascon, J

AU - Muleviciene, A

AU - Preiksaitiene, E

AU - Geier, CB

AU - Leiss-Piller, A

AU - Yamazaki, Y

AU - Kawai, T

AU - Walter, JE

AU - Kondratenko, IV

AU - Sediva, A

AU - van der Burg, Mirjam

AU - Kuzmenko, NB

AU - Notarangelo, LD

AU - Bernatowska, E

AU - Aleinikova, OV

PY - 2020

Y1 - 2020

U2 - 10.3389/fimmu.2020.00900

DO - 10.3389/fimmu.2020.00900

M3 - Article

SN - 1664-3224

VL - 11

JO - Frontiers in Immunology

JF - Frontiers in Immunology

M1 - 900

ER -