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Platelets Volume 28, 2017 - Issue 4
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Case Report

Wiskott–Aldrich syndrome in a child presenting with macrothrombocytopenia

Jose Maria BastidaDepartment of Hematology, H. Universitario de Salamanca-IBSAL, Salamanca, SpainCorrespondence[email protected]
,
Monica Del ReyIBSAL, IBMCC, CIC,Universidad de Salamanca-CSIC, Salamanca, Spain
,
Nuria RevillaCentro Regional de Hemodonación, H. Universitario Morales Meseguer, IMIB-Arrixaca, Murcia, Spain
,
Rocio BenitoIBSAL, IBMCC, CIC,Universidad de Salamanca-CSIC, Salamanca, Spain
,
Martin Perez-AndrésCancer Research Centre (IBMCC, CSIC-USAL), Institute of Biomedical Research of Salamanca (IBSAL), and Cytometry Service (NUCLEUS) and Department of Medicine, University of Salamanca, Salamanca, Spain
,
Berta GonzálezDepartment of Pediatrics, H. Universitario La Paz, Madrid, Spain
,
Susana RiescoDepartment of Pediatrics, H. Universitario de Salamanca-IBSAL, Salamanca, Spain
,
Kamila JanuszIBSAL, IBMCC, CIC,Universidad de Salamanca-CSIC, Salamanca, Spain
,
Jose PadillaCentro Regional de Hemodonación, H. Universitario Morales Meseguer, IMIB-Arrixaca, Murcia, Spain
,
Ana Hortal Benito-SendinDepartment of Pediatrics, H. Universitario de Salamanca-IBSAL, Salamanca, Spain
,
David BuenoDepartment of Pediatrics, H. Universitario La Paz, Madrid, Spain
,
Elena BlancoCentro Regional de Hemodonación, H. Universitario Morales Meseguer, IMIB-Arrixaca, Murcia, Spain
,
Jesus Maria Hernández-RivasDepartment of Hematology, H. Universitario de Salamanca-IBSAL, Salamanca, Spain;IBSAL, IBMCC, CIC,Universidad de Salamanca-CSIC, Salamanca, Spain
,
Vicente VicenteCentro Regional de Hemodonación, H. Universitario Morales Meseguer, IMIB-Arrixaca, Murcia, Spain;Grupo de Investigación CB15/00055 del Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain
,
Jose RiveraCentro Regional de Hemodonación, H. Universitario Morales Meseguer, IMIB-Arrixaca, Murcia, Spain;Grupo de Investigación CB15/00055 del Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain
,
Jose Ramon González-PorrasDepartment of Hematology, H. Universitario de Salamanca-IBSAL, Salamanca, Spain
&
Maria Luisa LozanoCentro Regional de Hemodonación, H. Universitario Morales Meseguer, IMIB-Arrixaca, Murcia, Spain;Grupo de Investigación CB15/00055 del Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain
 show all
Pages 417-420 | Received 24 Jun 2016, Accepted 21 Sep 2016, Published online: 25 Nov 2016

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Jose María Bastida, Sara Morais, Veronica Palma-Barqueros, Rocio Benito, Nuria Bermejo, Mutlu Karkucak, Maria Trapero-Marugan, Natalia Bohdan, Mónica Pereira, Ana Marin-Quilez, Jorge Oliveira, Yusuf Yucel, Rosario Santos, Jose Padilla, Kamila Janusz, Catarina Lau, Marta Martin-Izquierdo, Eduarda Couto, Juan Francisco Ruiz-Pividal, Vicente Vicente, Jesus Maria Hernández-Rivas, Jose Ramon González-Porras, Maria Luisa Lozano, Margarida Lima & Jose Rivera. (2019) Identification of novel variants in ten patients with Hermansky-Pudlak syndrome by high-throughput sequencing. Annals of Medicine 51:2, pages 141-148.
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Articles from other publishers (13)

Aanchal Bhola, Rashi Garg, Anuj Sharma, Neelam Gupta & Naveen Kakkar. (2022) Macrothrombocytopenia: Role of Automated Platelet Data in Diagnosis. Indian Journal of Hematology and Blood Transfusion.
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Serge Mbiandjeu, Alessandra Balduini & Alessandro Malara. (2021) Megakaryocyte Cytoskeletal Proteins in Platelet Biogenesis and Diseases. Thrombosis and Haemostasis 122:05, pages 666-678.
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Verónica Palma-Barqueros, Nuria Revilla, Ana Sánchez, Ana Zamora Cánovas, Agustín Rodriguez-Alén, Ana Marín-Quílez, José Ramón González-Porras, Vicente Vicente, María Luisa Lozano, José María Bastida & José Rivera. (2021) Inherited Platelet Disorders: An Updated Overview. International Journal of Molecular Sciences 22:9, pages 4521.
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José María Bastida, José Ramón Gonzalez-Porras, José Rivera & María Luisa Lozano. (2021) Role of Thrombopoietin Receptor Agonists in Inherited Thrombocytopenia. International Journal of Molecular Sciences 22:9, pages 4330.
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Tianping Chen, Jun Sun, Guanghui Liu, Chuangao Yin, Haipeng Liu, Lijun Qu, Shijin Fang, Ash Shifra & Gil Gilad. (2021) A Homozygous Mutation in 5′ Untranslated Region of TNFRSF11A Leading to Molecular Diagnosis of Osteopetrosis Coinheritance With Wiskott-Aldrich Syndrome. Journal of Pediatric Hematology/Oncology 43:2, pages e264-e267.
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Amy E. Geddis. 2021. Neonatal Hematology. Neonatal Hematology 243 260 .
SunilVishan Kapur & JitendraS Oswal. (2021) Atypical presentation of Wiskott–Aldrich syndrome with autoimmune arthritis and macrothrombocytopenia. Indian Journal of Rheumatology 16:4, pages 469.
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William Frank Mawalla, Hamisa Iddy, Christine Aloyce Kindole, Ahlam Nasser & Anna Schuh. (2021) Wiskott–Aldrich syndrome with normal platelet volume in a low-income setting: a case report. Therapeutic Advances in Rare Disease 2, pages 263300402110099.
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Jose María Bastida, María Luisa Girós, Rocío Benito, Kamila Janusz, Jesús María Hernández-Rivas & José Ramón González-Porras. (2019) Sitosterolemia: Diagnosis, Metabolic and Hematological Abnormalities, Cardiovascular Disease and Management. Current Medicinal Chemistry 26:37, pages 6766-6775.
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Ying-Ying Jin, Jing Wu, Tong-Xin Chen & Ji Chen. (2019) When WAS Gene Diagnosis Is Needed: Seeking Clues Through Comparison Between Patients With Wiskott-Aldrich Syndrome and Idiopathic Thrombocytopenic Purpura. Frontiers in Immunology 10.
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Fabio Candotti. (2017) Clinical Manifestations and Pathophysiological Mechanisms of the Wiskott-Aldrich Syndrome. Journal of Clinical Immunology 38:1, pages 13-27.
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J.M. Bastida, R. Benito, K. Janusz, M. Díez‐Campelo, J.M. Hernández‐Sánchez, S. Marcellini, M. Girós, J. Rivera, M.L. Lozano, A. Hortal, J.M. Hernández‐Rivas & J.R. González‐Porras. (2017) Two novel variants of the ABCG5 gene cause xanthelasmas and macrothrombocytopenia: a brief review of hematologic abnormalities of sitosterolemia. Journal of Thrombosis and Haemostasis 15:9, pages 1859-1866.
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K. Freson & E. Turro. (2017) High‐throughput sequencing approaches for diagnosing hereditary bleeding and platelet disorders. Journal of Thrombosis and Haemostasis 15:7, pages 1262-1272.
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