WISKOTT ALDRICH SYNDROME. BRIEF DESCRIPTION OF THE DISEASE. CLINICAL OBSERVATION
Abstract
The aim of investigation is to describe the clinical case of a patient with Wiskott-Aldrich Syndrome.
Materials and methods. We present a clinical case of a boy born in 2007 with a clinical picture of primary immunodeficiency, manifested in the form of Wiskott-Aldrich Syndrome. The child is under the supervision of a hematologist and immunologist at the Center for Pediatric Hematology, Oncology and Clinical Immunology.
Results and discussion. The boy had a wide range of clinical and laboratory symptoms, such as a serious condition of the child, severe intoxication, hepatosplenomegaly, petechial rashes on the skin of the body, hemorrhagic syndrome, anemia of unknown origin in the blood, leukocytosis, accelerated ESR, thrombocytopenia. Taking into account all the above indicators and data, Primary Immunodeficiency, Wiskott-Aldrich Syndrome diagnosis was established.
Conclusion. Based on this clinical case, one can be convinced that the clinical picture, including the characteristic triad of symptoms of this disease, is quite specific. Consequently, it helps doctors in differential diagnosis with other diseases.
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List of references
Primаry immunodеficiency diseases. Rеport of an IUIS Scientifiс Сommittee. International Union of Immunological Societies. Clin Exp Immunol. 2017; 118(Suppl. 1):1-28.
Bouma G, Burns SO, Thrasher AJ. Wiskott-Aldrich syndrome: immunodeficiency resulting from defective cell migration and impaired immunostimulatory activation. Immunobiology. 2019;214(9-10):778-90. DOI: https://doi.org/10.1016/j.imbio.2009.06.009
Liu DW, Zhang ZY, Zhao Q, Jiang LP, Liu W, Tu WW, et al. Wiskott-Aldrich syndrome/X-linked thrombocytopenia in China: clinical characteristic and genotype-phenotype correlation. Pediatr Blood Cancer. 2015;62(9):1601-8. DOI: https://doi.org/10.1002/pbc.25559
Moratto D, Giliani S, Notarangelo LD, Mazza C, Mazzolari E, Notarangelo LD. The Wiskott-Aldrich syndrome: from genotype-phenotype correlation to treatment. Expert Rev Clin Immunol. 2017;3(5):813-24. DOI: https://doi.org/10.1586/1744666X.3.5.813
Пащенко ОЕ, Кондратенко ИВ, Бологов АА. Аутоиммунные проявления при синдроме Вискотта-Олдрича. Детская больница. 2014;3(57):14-21. / Pashchenko OE, Kondratenko IV, Bologov AA. Autoimmune manifestations in the patients with Wiscott-Auldrich syndrome. Detskaya bol'nitsa. 2014;3(57):14-21. (In Russian).
Albert MH, Bittner TC, Nonoyama S, Notarangelo LD, Burns S, Imai K, et al. X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options. Blood. 2019;115(16):3231-8. DOI: https://doi.org/10.1182/blood-2009-09-239087
Ochs HD, Filipovich AH, Veys P, Cowan MJ, Kapoor N. Wiskott-Aldrich syndrome: diagnosis, clinical and laboratory manifestations, and treatment. Biol Blood Marrow Transplant. 2019;15(1, Suppl):84-90. DOI: https://doi.org/10.1016/j.bbmt.2008.10.007
Imai K, Morio T, Zhu Y, Jin Y, Itoh S, Kajiwara M, et al. Clinical course of patients with WASP gene mutations. Blood. 2014;103(2):456-64. DOI: https://doi.org/10.1182/blood-2003-05-1480
Ochs HD. Mutations of the Wiskott-Aldrich syndrome protein affect protein expression and dictate the clinical phenotypes. Immunol Res. 2018;44(1-3):84-8. DOI: https://doi.org/10.1007/s12026-008-8084-3
Wiskott A. Familiarer angeborener Morbus Werlhofii. Monastsschr. Monastsschr. Kinderleil. Kd. 2017;68:212-6.
Blundell MP, Worth A, Bouma G, Thrasher AJ. The Wiskott-Aldrich syndrome: the actin cytoskeleton and immune cell function. Dis Markers. 2019;29(3-4):157-75. DOI: https://doi.org/10.1155/2010/781523
Sarkar K, Sadhukhan S, Han SS, Vyas YM. Disruption of hSWI/SNF complexes in T cells by WAS mutations distinguishes X-linked thrombocytopenia from Wiskott- Aldrich syndrome. Blood. 2014;124(23):3409-19. DOI: https://doi.org/10.1182/blood-2014-07-587642
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