Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2

Pannicke, Ulrich, Hönig, Manfred, Hess, Isabell, Friesen, Claudia, Holzmann, Karlheinz, Rump, Eva-Maria, Barth, Thomas F, Rojewski, Markus T +4 more·2009·Nature Genetics

Cited by (236)

Items 101–200 of 236

  1. AK2 Promotes the Migration and Invasion of Lung Adenocarcinoma by Activating TGF-β/Smad Pathway In vitro and In vivo
    Fangfang Cai, Huangru Xu, Daolong Zha, Xiaoyang Wang, Ping Li, Shihui Yu, Yingying Yao, Xiaoyao Chang, Jia Chen, Yanyan Lu et al. · 2021 · Frontiers in Pharmacology
  2. Adenylate kinase phosphate energy shuttle underlies energetic communication in flagellar axonemes
    Huan Wu, Yanman Zhang, Yuqian Li, Shuya Sun, Jintao Zhang, Qingsong Xie, Yue Dong, Shushu Zhou, Xuan Sha, Kuokuo Li et al. · 2024 · Science China Life Sciences
  3. Primary immunodeficiencies appearing as combined lymphopenia, neutropenia, and monocytopenia
    Laura Dotta, Raffaele Badolato · 2013 · Immunology Letters
  4. Neurologic event–free survival demonstrates a benefit for SCID patients diagnosed by newborn screening
    Christopher C. Dvorak, Jennifer M. Puck, Justin T. Wahlstrom, Morna J. Dorsey, Alexis Melton, Morton Jerome Cowan · 2017 · Blood Advances
  5. Adenylate kinase AK2 isoform integral in embryo and adult heart homeostasis
    Song Zhang, Satsuki Yamada, Sungjo Park, Aleksandr Klepinin, Tuuli Käämbre, André Terzic, Petras P. Dzeja · 2021 · Biochemical and Biophysical Research Communications
  6. Adenylate Kinase Isoform Network: A Major Hub in Cell Energetics and Metabolic Signaling
    Song Zhang, Emirhan Nemutlu, André Terzic, Petras P. Dzeja · 2013 · Springer series in biophysics
  7. The blood and hematopoietic system
    Richard J. Martin, Avroy A. Fanaroff, Michele C. Walsh · 2011 · Elsevier eBooks
  8. NSD2 drives t(4;14) myeloma cell dependence on adenylate kinase 2 by diverting one-carbon metabolism to the epigenome
    Amin Sobh, Elena Encinas, Alisha Patel, Greeshma Surapaneni, Emilie Bonilla, Charlotte Leonie Kaestner, Janai Poullard, Monica Clerio, Karthik Vasan, Tzipporah Freeman et al. · 2024 · Blood
  9. An Integrative Pharmacogenomic Approach Identifies Two-drug Combination Therapies for Personalized Cancer Medicine
    Yin Liu, Fei Teng, Xiaoqi Zheng, Myles A Brown, Peng Zhang, X. Shirley Liu, Haiyun Wang · 2016 · Scientific Reports
  10. Molecular Classification of Primary Immunodeficiencies of T Lymphocytes
    William A. Comrie, Michael J. Lenardo · 2018 · Advances in immunology
  11. Inborn errors of immunity associated with defects of thymic development
    Francesca Pala, Luigi Daniele Notarangelo, Marita Bosticardo · 2022 · Pediatric Allergy and Immunology
  12. Occurrence of myelodysplastic syndrome in 2 patients with reticular dysgenesis
    Chantal Lagresle‐Peyrou, Bénédicte Neven, Emmanuelle M. Six, Capucine Pïcard, Corinne Demerens, Yves Bertrand, Nada Jabado, Christine Chomienne, Isabelle Radford‐Weiss, Chantal Brouzes et al. · 2011 · Journal of Allergy and Clinical Immunology
  13. Oral cancer cells may rewire alternative metabolic pathways to survive from siRNA silencing of metabolic enzymes
    Min Zhang, Yang Chai, Jeffrey Brumbaugh, Xiaojun Liu, Ramin Rabii, Sizhe Feng, Kaori Misuno, Diana V. Messadi, Shen Hu · 2014 · BMC Cancer
  14. Molecular basis of congenital neutropenia
    Christoph Klein · 2009 · Haematologica
  15. Hematopoietic Cell Transplantation for Immunodeficiency Diseases
    Richard J. O’Reilly, Wilhelm Friedrich · 2015
  16. Adenylate Kinase Isozyme 3 Regulates Mitochondrial Energy Metabolism and Knockout Alters HeLa Cell Metabolism
    Koichi Fujisawa, Maina Wakazaki, Aya Matsuzaki, Toshihiko Matsumoto, Naoki Yamamoto, Takafumi Noma, Taro Takami · 2022 · International Journal of Molecular Sciences
  17. Characterisation of Neutropenia-Associated Neutrophil Elastase Mutations in a Murine Differentiation Model In Vitro and In Vivo
    Michael Wiesmeier, Sanjivan Gautam, Susanne Kirschnek, Georg Alexander Häcker · 2016 · PLoS ONE
  18. Animal Models of Human Granulocyte Diseases
    Alejandro A. Schäffer, Christoph Klein · 2012 · Hematology/Oncology Clinics of North America
  19. New Genetic Discoveries and Primary Immune Deficiencies
    Vivian Pilar Hernandez-Trujillo · 2013 · Clinical Reviews in Allergy & Immunology
  20. Severe combined immune deficiency
    Fabio Candotti, Jean‐Pierre de Villartay, Despina Moshous, ANNA MARIA VILLA, Luigi Daniele Notarangelo · 2020 · Elsevier eBooks
  21. Disorders of Purine and Pyrimidine Metabolism
    Georges Berghe, M.-Françoise Vincent, Sandrine Marie · 2011 · Springer eBooks
  22. Modulation of phospho-proteins by interferon-alpha and valproic acid in acute myeloid leukemia
    Rakel Brendsdal Forthun, Monica Hellesøy, André Sulen, Reidun Kristin Kopperud, Gry Sjøholt, Øystein Bruserud, Emmet McCormack, Bjørn Tore Gjertsen · 2019 · Journal of Cancer Research and Clinical Oncology
  23. Primary immunodeficiencies: a decade of shifting paradigms, the current status and the emergence of cutting-edge therapies and diagnostics
    Maryam Ebadi, Asghar Aghamohammadi, Nima Rezaei · 2014 · Expert Review of Clinical Immunology
  24. Adenylate kinase 2 deficiency limits survival and regulates various genes during larval stages of Drosophila melanogaster
    Taigo Horiguchi, Miyuki Fuka, Koichi Fujisawa, Ayako Tanimura, Keiko Miyoshi, Ryutaro Murakami, Takafumi Noma · 2014 · The Journal of Medical Investigation
  25. Primary T-Cell Immunodeficiencies
    Chaim M. Roifman · 2019 · Elsevier eBooks
  26. Inborn errors of immunity and metabolic disorders: current understanding, diagnosis, and treatment approaches
    Pelin Teke Kısa, Nur Arslan · 2020 · Journal of Pediatric Endocrinology and Metabolism
  27. An NADH-controlled gatekeeper of ATP synthase
    Schildhauer, Fabian, Ryl, Petra S.J., Lauer, Simon M., Lenz, Swantje, Barlas, Ayşe Berçin, Ouzounidis, Vasileios R., Jeffrey, Kate, Marcu, Daniel-Cosmin, O’Reilly, Francis J., Graziadei, Andrea et al. · 2025 · Molecular Cell
  28. Interaction with AK2A links AIFM1 to cellular energy metabolism
    Robin Alexander Rothemann, Egor A. Pavlenko, Mrityunjoy Mondal, Sarah Gerlich, Pavel Grobushkin, Sebastian Mostert, Julia Racho, Konstantin Weiss, Dylan Stobbe, Katharina Stillger et al. · 2025 · Molecular Cell
  29. Common Presentations and Diagnostic Approaches
    Nima Rezaei, Esther de Vries, Eleonora Gambineri, Élie Haddad · 2014 · Elsevier eBooks
  30. A model for reticular dysgenesis shows impaired sensory organ development and hair cell regeneration linked to cellular stress
    Alberto Rissone, Erin Jimenez, Kevin S. Bishop, Blake Carrington, Claire C. Slevin, Stephen Wincovitch, Raman B. Sood, Fabio Candotti, Shawn Michael Burgess · 2019 · Disease Models & Mechanisms
  31. Molecular and cellular mechanisms underlying defective antibody responses
    Elissa K. Deenick, Anthony Lau, Julia Bier, Alisa Kane · 2020 · Immunology and Cell Biology
  32. Adenylate kinase 2 expression and addiction in T-ALL
    Nabih Maslah, Mehdi Latiri, Vahid Asnafi, Mélanie Féroul, Nawel Bedjaoui, Thomas Steimlé, Emmanuelle M. Six, Els Verhoyen, Elizabeth A. Macintyre, Chantal Lagresle‐Peyrou et al. · 2021 · Blood Advances
  33. UK-5099, a mitochondrial pyruvate carrier inhibitor, recovers impaired neutrophil maturation caused by AK2 deficiency in human pluripotent stem cell models
    Jingxin Wang, Norikazu Saiki, Ayako Tanimura, Takafumi Noma, Akira Niwa, Tastutoshi Nakahata, Megumu K. Saito · 2023 · Biochemical and Biophysical Research Communications
  34. Requirements for human natural killer cell development informed by primary immunodeficiency
    Emily Margaret Mace · 2016 · Current Opinion in Allergy and Clinical Immunology
  35. AK2 is an AMP-sensing negative regulator of BRAF in tumorigenesis
    Hyun‐Joo Kim, Muhah Jeong, Do-Hyeong Na, Shin-Hyeon Ryu, Eun Il Jeong, Kwangmin Jung, Jaemin Kang, Ho‐June Lee, Taebo Sim, Dae‐Yeul Yu et al. · 2022 · Cell Death and Disease
  36. More than just infections: an update on primary immune deficiencies
    C. Savides, Marcus S Shaker · 2010 · Current Opinion in Pediatrics
  37. Leukopenia
    Peter E. Newburger, Laurence A. Boxer · 2011 · Elsevier eBooks
  38. Evaluation of the Patient with Suspected Immunodeficiency
    Steven M. Holland, John I. Gallin · 2015 · Mandell, Douglas, and Bennett's Principles and Practice of Infectious Diseases
  39. Hepatic Legionella pneumophila Infection in an Infant With Severe Combined Immunodeficiency
    Rotem Lapidot, Laila S. Alawdah, Julia R. Köhler, Vera Paulson, Ofer Levy · 2017 · The Pediatric Infectious Disease Journal
  40. Evaluation of the Patient with Suspected Immunodeficiency
    Steven M. Holland, John I. Gallin · 2010 · Mandell, Douglas, and Bennett's Principles and Practice of Infectious Diseases
  41. Common presentations and diagnostic approaches
    Nima Rezaei, Esther de Vries, Eleonora Gambineri, Isabelle Meyts, Élie Haddad · 2020 · Elsevier eBooks
  42. Primary Combined Antibody and Cellular Immunodeficiencies
    Rebecca H. Buckley · 2011 · Elsevier eBooks
  43. Primary Immunodeficiency and Thrombocytopenia
    Maryam Mohtashami, Azadehsadat Razavi, Hassan Abolhassani, Asghar Aghamohammadi, Reza Yazdani · 2021 · International Reviews of Immunology
  44. The Genetic and Molecular Basis of Severe Combined Immunodeficiency
    Capucine Pïcard, Despina Moshous, Alain Fischer · 2014 · Current Pediatrics Reports
  45. Combined T and B Cell Immunodeficiencies
    Francisco A. Bonilla, Isil Berat Barlan, Elif Karakoç-Aydıner, Waleed Al–Herz, Martha Marianne Eibl, Teresa Español, Andrea Martín‐Nalda, László Maródi, Shabnam Pourhamdi, Pere Soler‐Palacín et al. · 2012 · Springer eBooks
  46. Reticular dysgenesis caused by an intronic pathogenic variant in AK2
    Shoji Ichikawa, Susan E. Prockop, Charlotte Cunningham‐Rundles, Travis M. Sifers, Blair R. Conner, Sitao Wu, Rachid Karam, Michael Francis Walsh, Elise M. Fiala · 2020 · Molecular Case Studies
  47. Failure of metabolic checkpoint control during late-stage granulopoiesis drives neutropenia in reticular dysgenesis
    Wenqing Wang, Martin Arreola Villanueva, Thomas P. Mathews, Andrew DeVilbiss, Zhiyu Zhao, Misty S. Martin-Sandoval, Abdulvasey Mohammed, Giorgia Benegiamo, Avni Awani, Ludger J.E. Goeminne et al. · 2024 · Blood
  48. Adenylate kinase 2 is a biomarker related to the prognosis of glioma and the immune microenvironment
    Zhichen Liu, Chunjiao Tang, Teng Xu, Zakaria Ahmed Mohamed, Jingyi Fan · 2023 · Journal of Clinical Laboratory Analysis
  49. Synthesis of {[5-(adenin-9-yl)-2-furyl]methoxy}methyl phosphonic acid and evaluations against human adenylate kinases
    Malika Kaci, Jean‐Pierre Uttaro, Valérie Lefort, Christophe Mathé, Chahrazade El Amri, Christian Périgaud · 2014 · Bioorganic & Medicinal Chemistry Letters
  50. Severe Combined Immunodeficiencies
    ANNA MARIA VILLA, Despina Moshous, Jean‐Pierre de Villartay, Luigi Daniele Notarangelo, Fabio Candotti · 2014 · Elsevier eBooks
  51. Purine and Pyrimidine Metabolism
    Naoyuki Kamatani, Hyder Azad Jinnah, Raoul C. M. Hennekam, André B. P. Kuilenburg · 2013 · Elsevier eBooks
  52. The inner mitochondrial membrane protein ANT 1 modulates IL ‐6 expression via the JNK pathway in macrophages
    Kazuki Nakahara, Tatsuhide Tanaka, Hiroaki Okuda, Ayami Isonishi, Shoko Takemura, Kouko Tatsumi, Akio Wanaka · 2018 · FEBS Letters
  53. Bone Marrow Failure Disorders
    Hassan El Solh, Abdallah Al-Nasser, Peter Kurre · 2012 · Springer eBooks
  54. Altered functional balance of Gfi-1 and Gfi-1b as an alternative cause of reticular dysgenesis?
    Igor Barjaktarević, Jelena Maletkovic-Barjaktarevic, Naynesh R. Kamani, Stanislav Vukmanović · 2009 · Medical Hypotheses
  55. Diagnostic Criteria and Evaluation of Severe Combined Immunodeficiency in the Neonate
    Carrie E. Diamond, Matthew J. Sanchez, James L. LaBelle · 2015 · Pediatric Annals
  56. T Cell Immunodeficiencies
    Luigi Daniele Notarangelo · 2015 · Elsevier eBooks
  57. Current Approach to Primary Immunodeficiency Diseases
    Öner Özdemır · 2019 · Southern Clinics of Istanbul Eurasia
  58. Hematopoietic stem cell transplantation for primary immune deficiencies
    Andrew Richard Gennery · 2020 · Elsevier eBooks
  59. Reticular dysgenesis exacerbated by hemophagocytic lymphohistiocytosis and the presence of unusual histiocyte-like cells in bone marrow
    Madhubala Sharma, Rahul Tyagi, Sathish Kumar Loganathan, Sreejesh Sreedharaunni, Amit Kumar Rawat, Anju Gupta · 2021 · Immunobiology
  60. Combined T- and B-Cell Immunodeficiencies
    Françoise Le Deist, Despina Moshous, ANNA MARIA VILLA, Waleed Al–Herz, Chaim M. Roifman, Alain Fischer, Luigi Daniele Notarangelo · 2016 · Springer eBooks
  61. The challenges presented by haematopoietic stem cell transplantation in children with primary immunodeficiency
    Andrew Richard Gennery · 2020 · British Medical Bulletin
  62. Severe Combined Immunodeficiency
    Jessica Galant-Swafford, Bob Geng · 2021 · Springer eBooks
  63. Disorders of Leukocyte Function
    Harry R. Hill, Attila Kumánovics, Kuender D. Young · 2013 · Elsevier eBooks
  64. Molecular cloning, subcellular localization and characterization of two adenylate kinases from cassava, Manihot esculenta Crantz cv. KU50
    Channarong Boonrueng, Surachat Tangpranomkorn, Uthaman Yazhisai, Supaart Sirikantaramas · 2016 · Journal of Plant Physiology
  65. Primary Immunodeficiency Diseases
    Rebecca H. Buckley, Jordan Scott Orange · 2014 · Elsevier eBooks
  66. Congenital neutropenia
    Christoph Klein · 2020 · Elsevier eBooks
  67. RETICULAR DYSGENESIS IN A PRETERM INFANT: A Case Report
    Hese Coşar, Zelal Kahramaner, Aydın Erdemir, Ali Kanık, Ebru Ipek Turkoglu, Sümer Sütçüoğlu, Can Öztürk, Berna Atabay, Esra Arun Özer · 2010 · Pediatric Hematology and Oncology
  68. White Blood Cell Defects
    Sergio D. Rosenzweig, Steven M. Holland · 2010 · Elsevier eBooks
  69. Early Haploidentical Hematopoietic Stem Cell Transplantation Provides Rapid Leukocyte and Immune Reconstitution in AK2 Patient Identified by TREC Newborn Screening
    Alphan Cicek, Friedhelm R. Schuster, Janel O. Boyle, Manfred Hoenig, Roland Meisel, Sujal Ghosh · 2025 · Journal of Clinical Immunology
  70. Single nucleotide polymorphism array analysis of 102 patients with developmental delay and/or intellectual disability from Fujian, China
    Bin Liang, Yan Wang, Na Lin, Hailong Huang, Lingji Chen, Meihuan Chen, Donghong Yu, Xuemei Chen, Deqin He, Liangpu Xu · 2020 · Clinica Chimica Acta
  71. The Effect of Heterozygous Mutation of Adenylate Kinase 2 Gene on Neutrophil Differentiation
    Taigo Horiguchi, Ayako Tanimura, Keiko Miyoshi, Hiroko Hagita, Hisanori Minami, Takafumi Noma · 2022 · International Journal of Molecular Sciences
  72. Genetic Basis of Inherited Bone Marrow Failure Syndromes
    Yigal Dror · 2011 · InTech eBooks
  73. Cytopenias: Reactive and Neoplastic
    Sanam Loghavi, Robert Paul Hasserjian · 2017 · Springer eBooks
  74. Zebrafish as a Novel Pharmacological Screening Model for Drug Discovery and Development Against Hematological Disorders
    Ambica Gadige, Gunturu Narasimha Tanuj, Amit Khurana, Prince Allawadhi, Isha Khurana, Anil Kumar Banothu, Sunitha Thalugula, Ramavath Redya Naik, Kala Kumar Bharani · 2022 · Springer eBooks
  75. Reticular Dysgenesis-associated Adenylate Kinase 2 deficiency causes failure of myelopoiesis through disordered purine metabolism
    Wenqing Wang, Andrew DeVilbiss, Martin Arreola Villanueva, Thomas P. Mathews, Zhiyu Zhao, Misty S. Martin-Sandoval, Giorgia Benegiamo, Avni Awani, Ludger J.E. Goeminne, Daniel P. Dever et al. · 2021 · bioRxiv (Cold Spring Harbor Laboratory)
  76. AK2‐Deficient Mice Recapitulate Impaired Lymphopoiesis of Reticular Dysgenesis Patients, but Also Lack Erythropoiesis
    Rebekka Waldmann, Franziska Werner, Alpaslan Tasdogan, Felix Immanuel Maier, Ursula Kohlhofer, Irene González-Menéndez, Leticia Quintanilla de Fend, Amrit Kaur Puarr, Ruth M. Arkell, Anselm Enders et al. · 2025 · European Journal of Immunology
  77. Whole-Exome Sequencing Reveals Rare Genetic Variants in Saudi COVID-19 Patients with Extreme Phenotypes
    Rashid Mir, Mohammad Fahad Ullah, Imadeldin Elfaki, Mohammad A. Alanazi, Naseh A. Algehainy, Faisal H. Altemani, Mamdoh S. Moawadh, Faris Jamal Tayeb, Badr Abdulmohsin Alsayed, Rashid Mir et al. · 2025 · Viruses
  78. Response to recombinant human granulocyte colony-stimulating factor in reticular dysgenesis
    Manabu Wakamatsu, Yohko Kitagawa, Yusuke Tsumura, Yusuke Okuno, Yoshitaka Sato, Yoshiro Kamachi, Ryo Maemura, Masayuki Imaya, Ayako Yamamori, Kotaro Narita et al. · 2026 · Journal of Human Immunity
  79. Reticular dysgenesis caused by AK2 deficiency: clinical spectrum and hematopoietic stem cell transplantation outcomes in 10 patients from a single-center
    Bothainah Alaqeel, Faiz Aljohani, Nora AlRumayyan, Ali Al-Ahmari, Reem Walid Mohammed, Hawazen Saleh Alsaedi, Mouhab Fakhreddine Ayas, Sultan Albuhairi, Sahar Elshorbagi, Rand Arnaout et al. · 2026 · Frontiers in Immunology
  80. Hematopoietic Stem Cell Transplantation for Primary Immunodeficiency
    Andrew Richard Gennery · 2014 · Elsevier eBooks
  81. Defects of Innate Immunity
    Jana P. Lovell, Steven M. Holland · 2018 · Springer eBooks
  82. Congenital Neutropenia
    Christoph Klein · 2014 · Elsevier eBooks
  83. Primary T-cell immunodeficiencies
    Chaim M. Roifman, Eyal Grunebaum · 2013 · Elsevier eBooks
  84. The Phagocytic System
    Hassan El Solh, Abdallah Al-Nasser, Saleh Al‐Muhsen · 2012 · Springer eBooks
  85. Immune Deficiencies Caused by B Cell Defects
    Anne Durandy, Sven Kracker, Alain Fischer · 2014 · Elsevier eBooks
  86. Approach to Primary Immunodeficiency Disease from Frequently used Simple Laboratory Tests in a Daily Clinic Routine
    Öner Özdemır · 2019 · Güncel Pediatri
  87. Severe Combined Immune Deficiency ( SCID ): Genetics
    Alain Fischer · 2011 · Encyclopedia of Life Sciences
  88. Angeborene Defekte der T- und B-Lymphozyten
    Manfred Hoenig, Jens Thiel, Klaus Warnatz, Klaus Schwarz · 2009 · Monatsschrift Kinderheilkunde
  89. Quantitative und qualitative Defekte neutrophiler Granulozyten
    Kaan Boztuǧ, Fabian H. Hauck, Uwe Wintergerst, Christoph Klein · 2009 · Monatsschrift Kinderheilkunde
  90. Identification and characterization of novel enzymes in mitochondrial and cytosolic nucleotide metabolism
    Christakis Panayiotou · 2011 · Figshare
  91. Nichtrheumatische Ursachen von Arthralgien und Arthritiden
    K. Buckup, Gerd Horneff, Wilma Mannhardt-Laakmann, Fred Zepp, Manfred Weiß, H. J. Girschick, Stefan Bielack, Horst Olschewski · 2007 · Springer eBooks
  92. T-Cell Immune Defects
    Evelina Mazzolari, Luigi Daniele Notarangelo · 2012 · Springer eBooks
  93. NMR and mass spectrometry P 31 O-assisted 18 tissues and transgenic models by Dynamic phosphometabolomic profiling of human
    Arshad Jahangir, Petras P. Dzeja, Emirhan Nemutlu, Song Zhang, Anu Gupta, Nenad Juranić · 2015
  94. Reviewexperience in T cell deficient patients
    Theresa S. Cole, Andrew J. Cant · 2010
  95. Clinical application of whole-genome sequenc- ing in patients with primary immunodeficiency
    Fiazia S. Yaseen, Seung‐Hyun Kim, Manal M. Monshi, Xiaoli Meng, Rosalind E. Jenkins, L Faulkner, Kevin G. Daly, B. Kevin Park, Dean John Naisbitt · 2015
  96. 447 The Phagocytic System
    2012 · SpringerReference
  97. 125 T-Cell Immune Defects
    Evelina Mazzolari, Luigi Daniele Notarangelo · 2012
  98. IMUNODEFICIÊNCIA COMBINADA SEVERA
    Joana Sofia, Pereira Magalhães · 2015
  99. Immunodeficiency: Severe Combined Immunodeficiency Disease
    Ivan Kingyue Chinn, William T. Shearer · 2016 · Wiley eBooks
  100. HCT for SCID: one size does not fit all
    Mary Eapen · 2017 · Blood