{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T04:48:06Z","timestamp":1747198086460,"version":"3.40.5"},"reference-count":15,"publisher":"Walter de Gruyter GmbH","issue":"2","license":[{"start":{"date-parts":[[2024,2,5]],"date-time":"2024-02-05T00:00:00Z","timestamp":1707091200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,6,26]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_almed-2023-0136_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Giant inclusions in leukocytes is a common feature that can be observed in some infections but can be also related to rare genetic disorders such as Ch\u00e9diak-Higashi syndrome (CHS). A differential diagnosis between these groups of diseases has to be performed using specific genetic tests. Clinical and pathological history is relevant for a diagnostic orientation due to the difficulty and specificity of the diagnostic confirmation.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_almed-2023-0136_abs_002\">\n                  <jats:title>Case presenation<\/jats:title>\n                  <jats:p>We present the case of a 3-years-old male patient with recurrent respiratory infections. It is important to highlight the presence of a lock of white hair on the front of the head and some hypopigmentation of the skin. In the blood smear, the presence of big cytoplasm granules in all the leukocytes, especially in neutrophils.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_almed-2023-0136_abs_003\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>CHS is an uncommon genetic disorder caused by the mutation in the <jats:italic>LYST<\/jats:italic> gene situated in chromosome 1q42.3 which codified for LYST protein. Molecular genetic testing also can be done to detect the biallelic variants in the <jats:italic>LYST<\/jats:italic> gene. It is essential to perform peripheral blood smears in the presence of changes in quantitative and\/or qualitative values in the complete blood count as a first step in the diagnosis algorithm.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/almed-2023-0136","type":"journal-article","created":{"date-parts":[[2024,2,14]],"date-time":"2024-02-14T10:11:13Z","timestamp":1707905473000},"page":"221-225","source":"Crossref","is-referenced-by-count":0,"title":["Detection of giant cytoplasmic inclusions in a pediatric patient with recurrent infections: a case report"],"prefix":"10.1515","volume":"5","author":[{"given":"Leire","family":"Saiz-Sierra","sequence":"first","affiliation":[{"name":"Laboratori Territorial ICS-IAS Girona, Hospital Universitari Doctor Josep Trueta , Girona , Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2612-7440","authenticated-orcid":false,"given":"Anna","family":"Marull Arnall","sequence":"additional","affiliation":[{"name":"Laboratori Territorial ICS-IAS Girona, Hospital Universitari Doctor Josep Trueta , Girona , Spain"},{"name":"Department of Medical Sciences , Research Group of Clinical Anatomy, Embryology and Neuroscience (NEOMA), University of Girona , Girona, Catalonia , Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Javier","family":"Nieto-Moragas","sequence":"additional","affiliation":[{"name":"Laboratori Territorial ICS-IAS Girona, Hospital Universitari Doctor Josep Trueta , Girona , Spain"},{"name":"Comisi\u00f3n de Biolog\u00eda Hematol\u00f3gica de la SEQC , Girona , Spain"},{"name":"Department of Medical Sciences , Research Group of Clinical Anatomy, Embryology and Neuroscience (NEOMA), University of Girona , Girona, Catalonia , Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meritxell","family":"Deulofeu","sequence":"additional","affiliation":[{"name":"Laboratori Territorial ICS-IAS Girona, Hospital Universitari Doctor Josep Trueta , Girona , Spain"},{"name":"Department of Medical Sciences , Research Group of Clinical Anatomy, Embryology and Neuroscience (NEOMA), University of Girona , Girona, Catalonia , Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Orlando","family":"Jim\u00e9nez Romero","sequence":"additional","affiliation":[{"name":"Laboratori Territorial ICS-IAS Girona, Hospital Universitari Doctor Josep Trueta , Girona , Spain"},{"name":"Department of Medical Sciences , Research Group of Clinical Anatomy, Embryology and Neuroscience (NEOMA), University of Girona , Girona, Catalonia , Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irene","family":"Mademont","sequence":"additional","affiliation":[{"name":"Laboratori Territorial ICS-IAS Girona, Hospital Universitari Doctor Josep Trueta , Girona , Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda","family":"Ob\u00f3n Ferrer","sequence":"additional","affiliation":[{"name":"Laboratori Territorial ICS-IAS Girona, Hospital Universitari Doctor Josep Trueta , Girona , Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda Teresa","family":"Serrando Querol","sequence":"additional","affiliation":[{"name":"Laboratori Territorial ICS-IAS Girona, Hospital Universitari Doctor Josep Trueta , Girona , Spain"},{"name":"Comisi\u00f3n de Biolog\u00eda Hematol\u00f3gica de la SEQC , Girona , Spain"},{"name":"Department of Medical Sciences , Research Group of Clinical Anatomy, Embryology and Neuroscience (NEOMA), University of Girona , Girona, Catalonia , Spain"},{"name":"Laboratori Territorial ICS-IAS Girona, Hospital, Parc Hospitalari Mart\u00ed i Juli\u00e0 , Salt, Girona, Catalunya , Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2024,2,5]]},"reference":[{"key":"2024062617010166732_j_almed-2023-0136_ref_001","doi-asserted-by":"crossref","unstructured":"Picard, C, Bobby Gaspar, H, Al-Herz, W, Bousfiha, A, Casanova, JL, Chatila, T, et al.. International Union of Immunological Societies: 2017 primary immunodeficiency diseases committee report on inborn errors of immunity. J Clin Immunol 2018;38:96\u2013128. https:\/\/doi.org\/10.1007\/s10875-017-0464-9.","DOI":"10.1007\/s10875-017-0464-9"},{"key":"2024062617010166732_j_almed-2023-0136_ref_002","doi-asserted-by":"crossref","unstructured":"Ward, DM, Shiflett, SL, Kaplan, J. Chediak-Higashi syndrome: a clinical and molecular view of a rare lysosomal storage disorder. Curr Mol Med 2002;2:469\u201377. https:\/\/doi.org\/10.2174\/1566524023362339.","DOI":"10.2174\/1566524023362339"},{"key":"2024062617010166732_j_almed-2023-0136_ref_003","doi-asserted-by":"crossref","unstructured":"Barbosa, MD, Nguyen, QA, Tchernev, VT, Ashley, JA, Detter, JC, Blaydes, SM, et al.. Identification of the homologous beige and Chediak-Higashi syndrome genes. Nature 1996;382:262\u20135. https:\/\/doi.org\/10.1038\/382262a0. Erratum in: Nature 1997;385:97.","DOI":"10.1038\/382262a0"},{"key":"2024062617010166732_j_almed-2023-0136_ref_004","doi-asserted-by":"crossref","unstructured":"Lozano, ML, Rivera, J, S\u00e1nchez-Guiu, I, Vicente, V. Towards the targeted management of Chediak-Higashi syndrome. Orphanet J Rare Dis 2014;9:132. https:\/\/doi.org\/10.1186\/s13023-014-0132-6.","DOI":"10.1186\/s13023-014-0132-6"},{"key":"2024062617010166732_j_almed-2023-0136_ref_005","doi-asserted-by":"crossref","unstructured":"Maaloul, I, Talmoudi, J, Chabchoub, I, Ayadi, L, Kamoun, TH, Boudawara, T, et al.. Chediak-Higashi syndrome presenting in accelerated phase: a case report and literature review. Hematol Oncol Stem Cel Ther 2016;9:71\u20135. https:\/\/doi.org\/10.1016\/j.hemonc.2015.07.002.","DOI":"10.1016\/j.hemonc.2015.07.002"},{"key":"2024062617010166732_j_almed-2023-0136_ref_006","doi-asserted-by":"crossref","unstructured":"Tchernev, VT, Mansfield, TA, Giot, L, Kumar, AM, Nandabalan, K, Li, Y, et al.. The Chediak-Higashi protein interacts with SNARE complex and signal transduction proteins. Mol Med 2002;8:56\u201364. https:\/\/doi.org\/10.1007\/bf03402003.","DOI":"10.1007\/BF03402003"},{"key":"2024062617010166732_j_almed-2023-0136_ref_007","doi-asserted-by":"crossref","unstructured":"Sepulveda, FE, Burgess, A, Heiligenstein, X, Goudin, N, M\u00e9nager, MM, Romao, M, et al.. LYST controls the biogenesis of the endosomal compartment required for secretory lysosome function. Traffic 2015;16:191\u2013203. https:\/\/doi.org\/10.1111\/tra.12244.","DOI":"10.1111\/tra.12244"},{"key":"2024062617010166732_j_almed-2023-0136_ref_008","doi-asserted-by":"crossref","unstructured":"Kaplan, J, De Domenico, I, Ward, DM. Chediak-Higashi syndrome. Curr Opin Hematol 2008;15:22\u20139. https:\/\/doi.org\/10.1097\/MOH.0b013e3282f2bcce.","DOI":"10.1097\/MOH.0b013e3282f2bcce"},{"key":"2024062617010166732_j_almed-2023-0136_ref_009","unstructured":"Toro, C, Nicoli, ER, Malicdan, MC, Adams, DR, Introne, WJ. Chediak-Higashi syndrome. In: Adam, MP, Ardinger, HH, Pagon, RA, Wallace, SE, Bean, LJH, Gripp, KW, et al.., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 2009 [updated 2018]: 1993\u20132022 pp."},{"key":"2024062617010166732_j_almed-2023-0136_ref_010","doi-asserted-by":"crossref","unstructured":"Yliranta, A, M\u00e4kinen, J. Chediak-Higashi syndrome: neurocognitive and behavioral data from infancy to adulthood after bone marrow transplantation. Neurocase 2021;27:1\u20137. https:\/\/doi.org\/10.1080\/13554794.2020.1856384.","DOI":"10.1080\/13554794.2020.1856384"},{"key":"2024062617010166732_j_almed-2023-0136_ref_011","doi-asserted-by":"crossref","unstructured":"Shirazi, TN, Snow, J, Ham, L, Raglan, GB, Wiggs, EA, Summers, AC, et al.. The neuropsychological phenotype of Chediak-Higashi disease. Orphanet J Rare Dis 2019;14:101. https:\/\/doi.org\/10.1186\/s13023-019-1049-x.","DOI":"10.1186\/s13023-019-1049-x"},{"key":"2024062617010166732_j_almed-2023-0136_ref_012","doi-asserted-by":"crossref","unstructured":"Gopaal, N, Sharma, JN, Agrawal, V, Lora, SS, Jadoun, LS. Chediak-Higashi syndrome with Epstein\u00a0\u2013 Barr virus triggered hemophagocytic lymphohistiocytosis: a case report. Cureus 2020;12:e11467. https:\/\/doi.org\/10.7759\/cureus.11467.","DOI":"10.7759\/cureus.11467"},{"key":"2024062617010166732_j_almed-2023-0136_ref_013","unstructured":"Ajitkumar, A, Yarrarapu, SNS, Ramphul, K. Chediak Higashi syndrome. 2022. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022."},{"key":"2024062617010166732_j_almed-2023-0136_ref_014","doi-asserted-by":"crossref","unstructured":"Fukuchi, K, Tatsuno, K, Sakaguchi, K, Sano, S, Sasaki, T, Aoki, S, et al.. Novel gene mutations in Ch\u00e9diak-Higashi syndrome with hyperpigmentation. J Dermatol 2019;46:e416\u20138. https:\/\/doi.org\/10.1111\/1346-8138.14987.","DOI":"10.1111\/1346-8138.14987"},{"key":"2024062617010166732_j_almed-2023-0136_ref_015","doi-asserted-by":"crossref","unstructured":"Rudramurthy, P, Lokanatha, H. Chediak-Higashi syndrome: a case series from Karnataka, India. Indian J Dermatol 2015;60:524. https:\/\/doi.org\/10.4103\/0019-5154.159662.","DOI":"10.4103\/0019-5154.159662"}],"container-title":["Advances in Laboratory Medicine \/ Avances en Medicina de Laboratorio"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/almed-2023-0136\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/almed-2023-0136\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,26]],"date-time":"2024-06-26T17:04:41Z","timestamp":1719421481000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/almed-2023-0136\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,2,5]]},"references-count":15,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2024,2,19]]},"published-print":{"date-parts":[[2024,6,26]]}},"alternative-id":["10.1515\/almed-2023-0136"],"URL":"https:\/\/doi.org\/10.1515\/almed-2023-0136","relation":{},"ISSN":["2628-491X"],"issn-type":[{"type":"electronic","value":"2628-491X"}],"subject":[],"published":{"date-parts":[[2024,2,5]]}}}