Research ArticleArticle
A Monogenic Disease with a Variety of Phenotypes: Deficiency of Adenosine Deaminase 2
Seza Özen, Ezgi Deniz Batu, Ekim Z. Taşkıran, Hatice Asuman Özkara, Şule Ünal, Naz Güleray, Abdulsamet Erden, Ömer Karadağ, Fatma Gümrük, Mualla Çetin, Hafize Emine Sönmez, Yelda Bilginer, Deniz Çağdaş Ayvaz and Ilhan Tezcan
The Journal of Rheumatology May 2019, jrheum.181384; DOI: https://doi.org/10.3899/jrheum.181384
Seza Özen
From the Division of Rheumatology, Department of Pediatrics, Division of Immunology, Department of Internal Medicine, Department of Medical Genetics, Department of Medical Biochemistry, Hacettepe University Faculty of Medicine; Hacettepe University Center for Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes, Ankara, Turkey. Supported by Scientific and Technological Research Council of Turkey (TÜBITAK) with grant number 315S192. S. Özen, MD, Division of Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine; Y. Bilginer, MD, Division of Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine; E.D. Batu, MD, Division of Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine; E.Z. Taşkıran, PhD, Department of Medical Genetics, Hacettepe University Faculty of Medicine; H.A. Özkara, MD, PhD, Department of Medical Biochemistry, Hacettepe University Faculty of Medicine; Ş. Ünal, MD, Hacettepe University Center for Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes; N. Güleray, MD, Department of Medical Genetics, Hacettepe University Faculty of Medicine; A. Erden, MD, Division of Rheumatology, Department of Internal Medicine, Hacettepe University Faculty of Medicine; Ö. Karadağ, MD, Division of Rheumatology, Department of Internal Medicine, Hacettepe University Faculty of Medicine; F. Gümrük, MD, Hacettepe University Center for Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes; M. Çetin, MD, Hacettepe University Center for Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes (retired); H.E. Sönmez, MD, Division of Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine; D.Ç. Ayvaz, MD, Division of Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine; I. Tezcan, MD, Division of Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine. E.D. Batu and E.Z. Taşkıran contributed equally to this study. Address correspondence to Dr. S. Özen, Department of Pediatrics, Division of Rheumatology, Hacettepe University Faculty of Medicine, Ankara 06100, Turkey. E-mail: sezaozen@gmail.com. Accepted for publication April 16, 2019.
Ezgi Deniz Batu
From the Division of Rheumatology, Department of Pediatrics, Division of Immunology, Department of Internal Medicine, Department of Medical Genetics, Department of Medical Biochemistry, Hacettepe University Faculty of Medicine; Hacettepe University Center for Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes, Ankara, Turkey. Supported by Scientific and Technological Research Council of Turkey (TÜBITAK) with grant number 315S192. S. Özen, MD, Division of Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine; Y. Bilginer, MD, Division of Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine; E.D. Batu, MD, Division of Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine; E.Z. Taşkıran, PhD, Department of Medical Genetics, Hacettepe University Faculty of Medicine; H.A. Özkara, MD, PhD, Department of Medical Biochemistry, Hacettepe University Faculty of Medicine; Ş. Ünal, MD, Hacettepe University Center for Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes; N. Güleray, MD, Department of Medical Genetics, Hacettepe University Faculty of Medicine; A. Erden, MD, Division of Rheumatology, Department of Internal Medicine, Hacettepe University Faculty of Medicine; Ö. Karadağ, MD, Division of Rheumatology, Department of Internal Medicine, Hacettepe University Faculty of Medicine; F. Gümrük, MD, Hacettepe University Center for Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes; M. Çetin, MD, Hacettepe University Center for Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes (retired); H.E. Sönmez, MD, Division of Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine; D.Ç. Ayvaz, MD, Division of Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine; I. Tezcan, MD, Division of Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine. E.D. Batu and E.Z. Taşkıran contributed equally to this study. Address correspondence to Dr. S. Özen, Department of Pediatrics, Division of Rheumatology, Hacettepe University Faculty of Medicine, Ankara 06100, Turkey. E-mail: sezaozen@gmail.com. Accepted for publication April 16, 2019.
Ekim Z. Taşkıran
From the Division of Rheumatology, Department of Pediatrics, Division of Immunology, Department of Internal Medicine, Department of Medical Genetics, Department of Medical Biochemistry, Hacettepe University Faculty of Medicine; Hacettepe University Center for Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes, Ankara, Turkey. Supported by Scientific and Technological Research Council of Turkey (TÜBITAK) with grant number 315S192. S. Özen, MD, Division of Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine; Y. Bilginer, MD, Division of Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine; E.D. Batu, MD, Division of Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine; E.Z. Taşkıran, PhD, Department of Medical Genetics, Hacettepe University Faculty of Medicine; H.A. Özkara, MD, PhD, Department of Medical Biochemistry, Hacettepe University Faculty of Medicine; Ş. Ünal, MD, Hacettepe University Center for Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes; N. Güleray, MD, Department of Medical Genetics, Hacettepe University Faculty of Medicine; A. Erden, MD, Division of Rheumatology, Department of Internal Medicine, Hacettepe University Faculty of Medicine; Ö. Karadağ, MD, Division of Rheumatology, Department of Internal Medicine, Hacettepe University Faculty of Medicine; F. Gümrük, MD, Hacettepe University Center for Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes; M. Çetin, MD, Hacettepe University Center for Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes (retired); H.E. Sönmez, MD, Division of Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine; D.Ç. Ayvaz, MD, Division of Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine; I. Tezcan, MD, Division of Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine. E.D. Batu and E.Z. Taşkıran contributed equally to this study. Address correspondence to Dr. S. Özen, Department of Pediatrics, Division of Rheumatology, Hacettepe University Faculty of Medicine, Ankara 06100, Turkey. E-mail: sezaozen@gmail.com. Accepted for publication April 16, 2019.
Hatice Asuman Özkara
From the Division of Rheumatology, Department of Pediatrics, Division of Immunology, Department of Internal Medicine, Department of Medical Genetics, Department of Medical Biochemistry, Hacettepe University Faculty of Medicine; Hacettepe University Center for Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes, Ankara, Turkey. Supported by Scientific and Technological Research Council of Turkey (TÜBITAK) with grant number 315S192. S. Özen, MD, Division of Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine; Y. Bilginer, MD, Division of Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine; E.D. Batu, MD, Division of Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine; E.Z. Taşkıran, PhD, Department of Medical Genetics, Hacettepe University Faculty of Medicine; H.A. Özkara, MD, PhD, Department of Medical Biochemistry, Hacettepe University Faculty of Medicine; Ş. Ünal, MD, Hacettepe University Center for Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes; N. Güleray, MD, Department of Medical Genetics, Hacettepe University Faculty of Medicine; A. Erden, MD, Division of Rheumatology, Department of Internal Medicine, Hacettepe University Faculty of Medicine; Ö. Karadağ, MD, Division of Rheumatology, Department of Internal Medicine, Hacettepe University Faculty of Medicine; F. Gümrük, MD, Hacettepe University Center for Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes; M. Çetin, MD, Hacettepe University Center for Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes (retired); H.E. Sönmez, MD, Division of Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine; D.Ç. Ayvaz, MD, Division of Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine; I. Tezcan, MD, Division of Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine. E.D. Batu and E.Z. Taşkıran contributed equally to this study. Address correspondence to Dr. S. Özen, Department of Pediatrics, Division of Rheumatology, Hacettepe University Faculty of Medicine, Ankara 06100, Turkey. E-mail: sezaozen@gmail.com. Accepted for publication April 16, 2019.
Şule Ünal
From the Division of Rheumatology, Department of Pediatrics, Division of Immunology, Department of Internal Medicine, Department of Medical Genetics, Department of Medical Biochemistry, Hacettepe University Faculty of Medicine; Hacettepe University Center for Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes, Ankara, Turkey. Supported by Scientific and Technological Research Council of Turkey (TÜBITAK) with grant number 315S192. S. Özen, MD, Division of Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine; Y. Bilginer, MD, Division of Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine; E.D. Batu, MD, Division of Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine; E.Z. Taşkıran, PhD, Department of Medical Genetics, Hacettepe University Faculty of Medicine; H.A. Özkara, MD, PhD, Department of Medical Biochemistry, Hacettepe University Faculty of Medicine; Ş. Ünal, MD, Hacettepe University Center for Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes; N. Güleray, MD, Department of Medical Genetics, Hacettepe University Faculty of Medicine; A. Erden, MD, Division of Rheumatology, Department of Internal Medicine, Hacettepe University Faculty of Medicine; Ö. Karadağ, MD, Division of Rheumatology, Department of Internal Medicine, Hacettepe University Faculty of Medicine; F. Gümrük, MD, Hacettepe University Center for Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes; M. Çetin, MD, Hacettepe University Center for Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes (retired); H.E. Sönmez, MD, Division of Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine; D.Ç. Ayvaz, MD, Division of Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine; I. Tezcan, MD, Division of Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine. E.D. Batu and E.Z. Taşkıran contributed equally to this study. Address correspondence to Dr. S. Özen, Department of Pediatrics, Division of Rheumatology, Hacettepe University Faculty of Medicine, Ankara 06100, Turkey. E-mail: sezaozen@gmail.com. Accepted for publication April 16, 2019.
Naz Güleray
From the Division of Rheumatology, Department of Pediatrics, Division of Immunology, Department of Internal Medicine, Department of Medical Genetics, Department of Medical Biochemistry, Hacettepe University Faculty of Medicine; Hacettepe University Center for Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes, Ankara, Turkey. Supported by Scientific and Technological Research Council of Turkey (TÜBITAK) with grant number 315S192. S. Özen, MD, Division of Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine; Y. Bilginer, MD, Division of Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine; E.D. Batu, MD, Division of Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine; E.Z. Taşkıran, PhD, Department of Medical Genetics, Hacettepe University Faculty of Medicine; H.A. Özkara, MD, PhD, Department of Medical Biochemistry, Hacettepe University Faculty of Medicine; Ş. Ünal, MD, Hacettepe University Center for Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes; N. Güleray, MD, Department of Medical Genetics, Hacettepe University Faculty of Medicine; A. Erden, MD, Division of Rheumatology, Department of Internal Medicine, Hacettepe University Faculty of Medicine; Ö. Karadağ, MD, Division of Rheumatology, Department of Internal Medicine, Hacettepe University Faculty of Medicine; F. Gümrük, MD, Hacettepe University Center for Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes; M. Çetin, MD, Hacettepe University Center for Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes (retired); H.E. Sönmez, MD, Division of Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine; D.Ç. Ayvaz, MD, Division of Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine; I. Tezcan, MD, Division of Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine. E.D. Batu and E.Z. Taşkıran contributed equally to this study. Address correspondence to Dr. S. Özen, Department of Pediatrics, Division of Rheumatology, Hacettepe University Faculty of Medicine, Ankara 06100, Turkey. E-mail: sezaozen@gmail.com. Accepted for publication April 16, 2019.
Abdulsamet Erden
From the Division of Rheumatology, Department of Pediatrics, Division of Immunology, Department of Internal Medicine, Department of Medical Genetics, Department of Medical Biochemistry, Hacettepe University Faculty of Medicine; Hacettepe University Center for Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes, Ankara, Turkey. Supported by Scientific and Technological Research Council of Turkey (TÜBITAK) with grant number 315S192. S. Özen, MD, Division of Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine; Y. Bilginer, MD, Division of Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine; E.D. Batu, MD, Division of Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine; E.Z. Taşkıran, PhD, Department of Medical Genetics, Hacettepe University Faculty of Medicine; H.A. Özkara, MD, PhD, Department of Medical Biochemistry, Hacettepe University Faculty of Medicine; Ş. Ünal, MD, Hacettepe University Center for Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes; N. Güleray, MD, Department of Medical Genetics, Hacettepe University Faculty of Medicine; A. Erden, MD, Division of Rheumatology, Department of Internal Medicine, Hacettepe University Faculty of Medicine; Ö. Karadağ, MD, Division of Rheumatology, Department of Internal Medicine, Hacettepe University Faculty of Medicine; F. Gümrük, MD, Hacettepe University Center for Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes; M. Çetin, MD, Hacettepe University Center for Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes (retired); H.E. Sönmez, MD, Division of Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine; D.Ç. Ayvaz, MD, Division of Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine; I. Tezcan, MD, Division of Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine. E.D. Batu and E.Z. Taşkıran contributed equally to this study. Address correspondence to Dr. S. Özen, Department of Pediatrics, Division of Rheumatology, Hacettepe University Faculty of Medicine, Ankara 06100, Turkey. E-mail: sezaozen@gmail.com. Accepted for publication April 16, 2019.
Ömer Karadağ
From the Division of Rheumatology, Department of Pediatrics, Division of Immunology, Department of Internal Medicine, Department of Medical Genetics, Department of Medical Biochemistry, Hacettepe University Faculty of Medicine; Hacettepe University Center for Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes, Ankara, Turkey. Supported by Scientific and Technological Research Council of Turkey (TÜBITAK) with grant number 315S192. S. Özen, MD, Division of Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine; Y. Bilginer, MD, Division of Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine; E.D. Batu, MD, Division of Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine; E.Z. Taşkıran, PhD, Department of Medical Genetics, Hacettepe University Faculty of Medicine; H.A. Özkara, MD, PhD, Department of Medical Biochemistry, Hacettepe University Faculty of Medicine; Ş. Ünal, MD, Hacettepe University Center for Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes; N. Güleray, MD, Department of Medical Genetics, Hacettepe University Faculty of Medicine; A. Erden, MD, Division of Rheumatology, Department of Internal Medicine, Hacettepe University Faculty of Medicine; Ö. Karadağ, MD, Division of Rheumatology, Department of Internal Medicine, Hacettepe University Faculty of Medicine; F. Gümrük, MD, Hacettepe University Center for Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes; M. Çetin, MD, Hacettepe University Center for Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes (retired); H.E. Sönmez, MD, Division of Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine; D.Ç. Ayvaz, MD, Division of Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine; I. Tezcan, MD, Division of Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine. E.D. Batu and E.Z. Taşkıran contributed equally to this study. Address correspondence to Dr. S. Özen, Department of Pediatrics, Division of Rheumatology, Hacettepe University Faculty of Medicine, Ankara 06100, Turkey. E-mail: sezaozen@gmail.com. Accepted for publication April 16, 2019.
Fatma Gümrük
From the Division of Rheumatology, Department of Pediatrics, Division of Immunology, Department of Internal Medicine, Department of Medical Genetics, Department of Medical Biochemistry, Hacettepe University Faculty of Medicine; Hacettepe University Center for Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes, Ankara, Turkey. Supported by Scientific and Technological Research Council of Turkey (TÜBITAK) with grant number 315S192. S. Özen, MD, Division of Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine; Y. Bilginer, MD, Division of Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine; E.D. Batu, MD, Division of Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine; E.Z. Taşkıran, PhD, Department of Medical Genetics, Hacettepe University Faculty of Medicine; H.A. Özkara, MD, PhD, Department of Medical Biochemistry, Hacettepe University Faculty of Medicine; Ş. Ünal, MD, Hacettepe University Center for Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes; N. Güleray, MD, Department of Medical Genetics, Hacettepe University Faculty of Medicine; A. Erden, MD, Division of Rheumatology, Department of Internal Medicine, Hacettepe University Faculty of Medicine; Ö. Karadağ, MD, Division of Rheumatology, Department of Internal Medicine, Hacettepe University Faculty of Medicine; F. Gümrük, MD, Hacettepe University Center for Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes; M. Çetin, MD, Hacettepe University Center for Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes (retired); H.E. Sönmez, MD, Division of Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine; D.Ç. Ayvaz, MD, Division of Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine; I. Tezcan, MD, Division of Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine. E.D. Batu and E.Z. Taşkıran contributed equally to this study. Address correspondence to Dr. S. Özen, Department of Pediatrics, Division of Rheumatology, Hacettepe University Faculty of Medicine, Ankara 06100, Turkey. E-mail: sezaozen@gmail.com. Accepted for publication April 16, 2019.
Mualla Çetin
From the Division of Rheumatology, Department of Pediatrics, Division of Immunology, Department of Internal Medicine, Department of Medical Genetics, Department of Medical Biochemistry, Hacettepe University Faculty of Medicine; Hacettepe University Center for Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes, Ankara, Turkey. Supported by Scientific and Technological Research Council of Turkey (TÜBITAK) with grant number 315S192. S. Özen, MD, Division of Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine; Y. Bilginer, MD, Division of Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine; E.D. Batu, MD, Division of Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine; E.Z. Taşkıran, PhD, Department of Medical Genetics, Hacettepe University Faculty of Medicine; H.A. Özkara, MD, PhD, Department of Medical Biochemistry, Hacettepe University Faculty of Medicine; Ş. Ünal, MD, Hacettepe University Center for Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes; N. Güleray, MD, Department of Medical Genetics, Hacettepe University Faculty of Medicine; A. Erden, MD, Division of Rheumatology, Department of Internal Medicine, Hacettepe University Faculty of Medicine; Ö. Karadağ, MD, Division of Rheumatology, Department of Internal Medicine, Hacettepe University Faculty of Medicine; F. Gümrük, MD, Hacettepe University Center for Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes; M. Çetin, MD, Hacettepe University Center for Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes (retired); H.E. Sönmez, MD, Division of Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine; D.Ç. Ayvaz, MD, Division of Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine; I. Tezcan, MD, Division of Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine. E.D. Batu and E.Z. Taşkıran contributed equally to this study. Address correspondence to Dr. S. Özen, Department of Pediatrics, Division of Rheumatology, Hacettepe University Faculty of Medicine, Ankara 06100, Turkey. E-mail: sezaozen@gmail.com. Accepted for publication April 16, 2019.
Hafize Emine Sönmez
From the Division of Rheumatology, Department of Pediatrics, Division of Immunology, Department of Internal Medicine, Department of Medical Genetics, Department of Medical Biochemistry, Hacettepe University Faculty of Medicine; Hacettepe University Center for Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes, Ankara, Turkey. Supported by Scientific and Technological Research Council of Turkey (TÜBITAK) with grant number 315S192. S. Özen, MD, Division of Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine; Y. Bilginer, MD, Division of Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine; E.D. Batu, MD, Division of Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine; E.Z. Taşkıran, PhD, Department of Medical Genetics, Hacettepe University Faculty of Medicine; H.A. Özkara, MD, PhD, Department of Medical Biochemistry, Hacettepe University Faculty of Medicine; Ş. Ünal, MD, Hacettepe University Center for Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes; N. Güleray, MD, Department of Medical Genetics, Hacettepe University Faculty of Medicine; A. Erden, MD, Division of Rheumatology, Department of Internal Medicine, Hacettepe University Faculty of Medicine; Ö. Karadağ, MD, Division of Rheumatology, Department of Internal Medicine, Hacettepe University Faculty of Medicine; F. Gümrük, MD, Hacettepe University Center for Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes; M. Çetin, MD, Hacettepe University Center for Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes (retired); H.E. Sönmez, MD, Division of Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine; D.Ç. Ayvaz, MD, Division of Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine; I. Tezcan, MD, Division of Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine. E.D. Batu and E.Z. Taşkıran contributed equally to this study. Address correspondence to Dr. S. Özen, Department of Pediatrics, Division of Rheumatology, Hacettepe University Faculty of Medicine, Ankara 06100, Turkey. E-mail: sezaozen@gmail.com. Accepted for publication April 16, 2019.
Yelda Bilginer
From the Division of Rheumatology, Department of Pediatrics, Division of Immunology, Department of Internal Medicine, Department of Medical Genetics, Department of Medical Biochemistry, Hacettepe University Faculty of Medicine; Hacettepe University Center for Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes, Ankara, Turkey. Supported by Scientific and Technological Research Council of Turkey (TÜBITAK) with grant number 315S192. S. Özen, MD, Division of Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine; Y. Bilginer, MD, Division of Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine; E.D. Batu, MD, Division of Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine; E.Z. Taşkıran, PhD, Department of Medical Genetics, Hacettepe University Faculty of Medicine; H.A. Özkara, MD, PhD, Department of Medical Biochemistry, Hacettepe University Faculty of Medicine; Ş. Ünal, MD, Hacettepe University Center for Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes; N. Güleray, MD, Department of Medical Genetics, Hacettepe University Faculty of Medicine; A. Erden, MD, Division of Rheumatology, Department of Internal Medicine, Hacettepe University Faculty of Medicine; Ö. Karadağ, MD, Division of Rheumatology, Department of Internal Medicine, Hacettepe University Faculty of Medicine; F. Gümrük, MD, Hacettepe University Center for Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes; M. Çetin, MD, Hacettepe University Center for Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes (retired); H.E. Sönmez, MD, Division of Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine; D.Ç. Ayvaz, MD, Division of Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine; I. Tezcan, MD, Division of Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine. E.D. Batu and E.Z. Taşkıran contributed equally to this study. Address correspondence to Dr. S. Özen, Department of Pediatrics, Division of Rheumatology, Hacettepe University Faculty of Medicine, Ankara 06100, Turkey. E-mail: sezaozen@gmail.com. Accepted for publication April 16, 2019.
Deniz Çağdaş Ayvaz
From the Division of Rheumatology, Department of Pediatrics, Division of Immunology, Department of Internal Medicine, Department of Medical Genetics, Department of Medical Biochemistry, Hacettepe University Faculty of Medicine; Hacettepe University Center for Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes, Ankara, Turkey. Supported by Scientific and Technological Research Council of Turkey (TÜBITAK) with grant number 315S192. S. Özen, MD, Division of Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine; Y. Bilginer, MD, Division of Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine; E.D. Batu, MD, Division of Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine; E.Z. Taşkıran, PhD, Department of Medical Genetics, Hacettepe University Faculty of Medicine; H.A. Özkara, MD, PhD, Department of Medical Biochemistry, Hacettepe University Faculty of Medicine; Ş. Ünal, MD, Hacettepe University Center for Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes; N. Güleray, MD, Department of Medical Genetics, Hacettepe University Faculty of Medicine; A. Erden, MD, Division of Rheumatology, Department of Internal Medicine, Hacettepe University Faculty of Medicine; Ö. Karadağ, MD, Division of Rheumatology, Department of Internal Medicine, Hacettepe University Faculty of Medicine; F. Gümrük, MD, Hacettepe University Center for Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes; M. Çetin, MD, Hacettepe University Center for Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes (retired); H.E. Sönmez, MD, Division of Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine; D.Ç. Ayvaz, MD, Division of Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine; I. Tezcan, MD, Division of Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine. E.D. Batu and E.Z. Taşkıran contributed equally to this study. Address correspondence to Dr. S. Özen, Department of Pediatrics, Division of Rheumatology, Hacettepe University Faculty of Medicine, Ankara 06100, Turkey. E-mail: sezaozen@gmail.com. Accepted for publication April 16, 2019.
Ilhan Tezcan
From the Division of Rheumatology, Department of Pediatrics, Division of Immunology, Department of Internal Medicine, Department of Medical Genetics, Department of Medical Biochemistry, Hacettepe University Faculty of Medicine; Hacettepe University Center for Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes, Ankara, Turkey. Supported by Scientific and Technological Research Council of Turkey (TÜBITAK) with grant number 315S192. S. Özen, MD, Division of Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine; Y. Bilginer, MD, Division of Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine; E.D. Batu, MD, Division of Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine; E.Z. Taşkıran, PhD, Department of Medical Genetics, Hacettepe University Faculty of Medicine; H.A. Özkara, MD, PhD, Department of Medical Biochemistry, Hacettepe University Faculty of Medicine; Ş. Ünal, MD, Hacettepe University Center for Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes; N. Güleray, MD, Department of Medical Genetics, Hacettepe University Faculty of Medicine; A. Erden, MD, Division of Rheumatology, Department of Internal Medicine, Hacettepe University Faculty of Medicine; Ö. Karadağ, MD, Division of Rheumatology, Department of Internal Medicine, Hacettepe University Faculty of Medicine; F. Gümrük, MD, Hacettepe University Center for Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes; M. Çetin, MD, Hacettepe University Center for Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes (retired); H.E. Sönmez, MD, Division of Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine; D.Ç. Ayvaz, MD, Division of Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine; I. Tezcan, MD, Division of Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine. E.D. Batu and E.Z. Taşkıran contributed equally to this study. Address correspondence to Dr. S. Özen, Department of Pediatrics, Division of Rheumatology, Hacettepe University Faculty of Medicine, Ankara 06100, Turkey. E-mail: sezaozen@gmail.com. Accepted for publication April 16, 2019.
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In this issue
The Journal of Rheumatology
Vol. 51, Issue 4
1 Apr 2024
A Monogenic Disease with a Variety of Phenotypes: Deficiency of Adenosine Deaminase 2
Seza Özen, Ezgi Deniz Batu, Ekim Z. Taşkıran, Hatice Asuman Özkara, Şule Ünal, Naz Güleray, Abdulsamet Erden, Ömer Karadağ, Fatma Gümrük, Mualla Çetin, Hafize Emine Sönmez, Yelda Bilginer, Deniz Çağdaş Ayvaz, Ilhan Tezcan
The Journal of Rheumatology May 2019, jrheum.181384; DOI: 10.3899/jrheum.181384
A Monogenic Disease with a Variety of Phenotypes: Deficiency of Adenosine Deaminase 2
Seza Özen, Ezgi Deniz Batu, Ekim Z. Taşkıran, Hatice Asuman Özkara, Şule Ünal, Naz Güleray, Abdulsamet Erden, Ömer Karadağ, Fatma Gümrük, Mualla Çetin, Hafize Emine Sönmez, Yelda Bilginer, Deniz Çağdaş Ayvaz, Ilhan Tezcan
The Journal of Rheumatology May 2019, jrheum.181384; DOI: 10.3899/jrheum.181384