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Chediak-Higashi syndrome.
Talbert ML, Malicdan MCV, Introne WJ. Talbert ML, et al. Curr Opin Hematol. 2023 Jul 1;30(4):144-151. doi: 10.1097/MOH.0000000000000766. Epub 2023 Apr 25. Curr Opin Hematol. 2023. PMID: 37254856 Free PMC article. Review.
PURPOSE OF REVIEW: Chediak-Higashi syndrome is a rare autosomal recessive disorder characterized by congenital immunodeficiency, bleeding diathesis, pyogenic infection, partial oculocutaneous albinism, and progressive neurodegeneration. ...This review serves …
PURPOSE OF REVIEW: Chediak-Higashi syndrome is a rare autosomal recessive disorder characterized by congenital immunode …
Chediak-Higashi Syndrome: Hair-to-toe spectrum.
Greene S, Soldatos A, Toro C, Zein WM, Snow J, Lehky TJ, Malicdan MCV, Introne WJ. Greene S, et al. Semin Pediatr Neurol. 2024 Dec;52:101168. doi: 10.1016/j.spen.2024.101168. Epub 2024 Nov 8. Semin Pediatr Neurol. 2024. PMID: 39622608 Free PMC article. Review.
Chediak-Higashi Syndrome (CHS) is a rare autosomal recessive disorder caused by mutations in the Lysosomal Trafficking Regulator (LYST) gene, leading to defective lysosomal function in immune cells, melanocytes, and neurons. ...
Chediak-Higashi Syndrome (CHS) is a rare autosomal recessive disorder caused by mutations in the Lysosomal Trafficking …
Oral manifestations of Chediak-Higashi syndrome: A systematic review.
de Arruda JAA, Sousa-Neto SS, Abreu LG, Schuch LF, Souza VG, Alves TVL, Martins-Andrade B, Shetty SS, Monteiro JLGC, Mendonça EF, Mesquita RA, Callou G. de Arruda JAA, et al. Dis Mon. 2023 Jan;69(1):101356. doi: 10.1016/j.disamonth.2022.101356. Epub 2022 Apr 10. Dis Mon. 2023. PMID: 35414415
Chediak-Higashi syndrome (CHS) is an autosomal recessive disorder characterized by leukocytes with giant secretory granules and a myriad of clinical features. ...
Chediak-Higashi syndrome (CHS) is an autosomal recessive disorder characterized by leukocytes with giant secretory gran …
Large lysosomes in Chediak-Higashi syndrome.
Zhou W, Lane JC, Chang A. Zhou W, et al. Kidney Int. 2024 Aug;106(2):320. doi: 10.1016/j.kint.2024.03.008. Kidney Int. 2024. PMID: 39032971 No abstract available.
iPS cells from Chediak-Higashi syndrome patients recapitulate the giant granules in myeloid cells.
Oh S, Niwa A, Nagahashi A, Asaka I, Nakahata T, Saito MK. Oh S, et al. Pediatr Int. 2022 Jan;64(1):e15390. doi: 10.1111/ped.15390. Pediatr Int. 2022. PMID: 36259166
BACKGROUND: Chediak-Higashi syndrome (CHS) is a congenital disease characterized by immunodeficiency, hemophagocytic lymphohistiocytosis, oculocutaneous albinism, and neurological symptoms. ...
BACKGROUND: Chediak-Higashi syndrome (CHS) is a congenital disease characterized by immunodeficiency, hemophagocytic ly …
Rare Pseudo-Chediak-Higashi Inclusions in Therapy-Related Acute Myeloid Leukemia with Myelodysplasia-Related Changes.
Fan Y, Jiang L, Wang N, Liu X, Zhang L. Fan Y, et al. Clin Lab. 2023 May 1;69(5). doi: 10.7754/Clin.Lab.2022.220910. Clin Lab. 2023. PMID: 37145084
BACKGROUND: Defined as rare large azurophilic cytoplasmic inclusions, Pseudo-Chediak-Higashi granules mimic those in granulocytes cytoplasm of Chediak-Higashi syndrome. Rare cases of hematopoietic and lymphoid tissues tumors showed Pseudo-Chediak-Higashi incl …
BACKGROUND: Defined as rare large azurophilic cytoplasmic inclusions, Pseudo-Chediak-Higashi granules mimic those in granulocytes cytoplasm …
Chediak Higashi Syndrome with Hemophagocytic Lymphohistiocytosis.
Safavi M, Parvaneh N. Safavi M, et al. Fetal Pediatr Pathol. 2023 Apr;42(2):259-262. doi: 10.1080/15513815.2022.2077489. Epub 2022 May 24. Fetal Pediatr Pathol. 2023. PMID: 35608383
INTRODUCTION: Chediak-Higashi syndrome (CHS) is caused by dysfunction of lysosomal trafficking and presents with hypopigmentation, bleeding tendencies, neurological symptoms, and NK cell dysfunction. ...
INTRODUCTION: Chediak-Higashi syndrome (CHS) is caused by dysfunction of lysosomal trafficking and presents with hypopi …
Novel LYST Variants Lead to Aberrant Splicing in a Patient with Chediak-Higashi Syndrome.
Aleksenko M, Vlasova E, Kieva A, Abasov R, Rodina Y, Maschan M, Shcherbina A, Raykina E. Aleksenko M, et al. Genes (Basel). 2024 Dec 26;16(1):18. doi: 10.3390/genes16010018. Genes (Basel). 2024. PMID: 39858566 Free PMC article.
Results: We found two novel heterozygous variants in the coding region of the LYST gene (c.10104G>T, c.10894A>G) in an individual with a typical clinical presentation of Chediak-Higashi syndrome (CHS). The SpliceAI neural network predicted both variants …
Results: We found two novel heterozygous variants in the coding region of the LYST gene (c.10104G>T, c.10894A>G) in an individual with …
LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and size.
Serra-Vinardell J, Sandler MB, De Pace R, Manzella-Lapeira J, Cougnoux A, Keyvanfar K, Introne WJ, Brzostowski JA, Ward ME, Gahl WA, Sharma P, Malicdan MCV. Serra-Vinardell J, et al. Cell Mol Life Sci. 2023 Jan 28;80(2):53. doi: 10.1007/s00018-023-04695-x. Cell Mol Life Sci. 2023. PMID: 36707427 Free PMC article.
Chediak-Higashi syndrome (CHS) is a rare, autosomal recessive disorder caused by biallelic mutations in the lysosomal trafficking regulator (LYST) gene. ...
Chediak-Higashi syndrome (CHS) is a rare, autosomal recessive disorder caused by biallelic mutations in the lysosomal t …
Successful use of emapalumab in refractory hemophagocytic lymphohistiocytosis in a child with Chediak-Higashi syndrome: a case report.
AlAhmari A, Khogeer H. AlAhmari A, et al. J Med Case Rep. 2023 Mar 29;17(1):113. doi: 10.1186/s13256-023-03808-1. J Med Case Rep. 2023. PMID: 36978158 Free PMC article.
The clinical and biochemical profiles were suggestive of Chediak-Higashi syndrome with hemophagocytic lymphohistiocytosis. The patient received the hemophagocytic lymphohistiocytosis-2004 chemotherapy protocol and had multiple hospital admissions mainly due t …
The clinical and biochemical profiles were suggestive of Chediak-Higashi syndrome with hemophagocytic lymphohistiocytos …
28 results