Chediak-Higashi syndrome.
Journal
Current opinion in hematology
ISSN: 1531-7048
Titre abrégé: Curr Opin Hematol
Pays: United States
ID NLM: 9430802
Informations de publication
Date de publication:
01 07 2023
01 07 2023
Historique:
pmc-release:
01
07
2024
medline:
1
6
2023
pubmed:
31
5
2023
entrez:
31
5
2023
Statut:
ppublish
Résumé
Chediak-Higashi syndrome is a rare autosomal recessive disorder characterized by congenital immunodeficiency, bleeding diathesis, pyogenic infection, partial oculocutaneous albinism, and progressive neurodegeneration. Treatment is hematopoietic stem cell transplantation or bone marrow transplantation; however, this does not treat the neurologic aspect of the disease. Mutations in the lysosomal trafficking regulator (LYST) gene were identified to be causative of Chediak-Higashi, but despite many analyses, there is little functional information about the LYST protein. This review serves to provide an update on the clinical manifestations and cellular defects of Chediak-Higashi syndrome. More recent papers expand the neurological spectrum of disease in CHS, to include hereditary spastic paraplegia and parkinsonism. Granule size and distribution in NK cells have been investigated in relation to the location of mutations in LYST. Patients with mutations in the ARM/HEAT domain had markedly enlarged granules, but fewer in number. By contrast, patients with mutations in the BEACH domain had more numerous granules that were normal in size to slightly enlarged, but demonstrated markedly impaired polarization. The role of LYST in autophagosome formation has been highlighted in recent studies; LYST was defined to have a prominent role in autophagosome lysosome reformation for the maintenance of lysosomal homeostasis in neurons, while in retinal pigment epithelium cells, LYST deficiency was shown to lead to phagosome accumulation. Despite CHS being a rare disease, investigation into LYST provides an understanding of basic vesicular fusion and fission. Understanding of these mechanisms may provide further insight into the function of LYST.
Identifiants
pubmed: 37254856
doi: 10.1097/MOH.0000000000000766
pii: 00062752-202307000-00008
pmc: PMC10501739
mid: NIHMS1889743
doi:
Substances chimiques
Vesicular Transport Proteins
0
Types de publication
Review
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
144-151Subventions
Organisme : Intramural NIH HHS
ID : Z99 HG999999
Pays : United States
Informations de copyright
Copyright © 2023 Wolters Kluwer Health, Inc. All rights reserved.
Références
Toro C, Nicoli ER, Malicdan MC, et al . Chediak-Higashi syndrome. In: Adam MO, Everman DB, Mirzaa GM, et al. , editors. GeneReviews((R)). Seattle (WA); 1993.
Kaplan J, De Domenico I, Ward DM. Chediak-Higashi syndrome. Curr Opin Hematol 2008; 15:22–29.
Ward DM, Shiflett SL, Kaplan J. Chediak-Higashi syndrome: a clinical and molecular view of a rare lysosomal storage disorder. Curr Mol Med 2002; 2:469–477.
Introne W, Boissy RE, Gahl WA. Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome. Mol Genet Metab 1999; 68:283–303.
Weisfeld-Adams JD, Mehta L, Rucker JC, et al. Atypical Chediak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease. Orphanet J Rare Dis 2013; 8:46.
Introne WJ, Westbroek W, Groden CA, et al. Neurologic involvement in patients with atypical Chediak-Higashi disease. Neurology 2017; 88:e57–e65.
Yarnell DS, Roney JC, Teixeira C, et al. Diagnosis of Chediak Higashi disease in a 67-year old woman. Am J Med Genet A 2020; 182:3007–3013.
Desai N, Weisfeld-Adams JD, Brodie SE, et al. Optic neuropathy in late-onset neurodegenerative Chediak-Higashi syndrome. Br J Ophthalmol 2016; 100:704–707.
Sayanagi K, Fujikado T, Onodera T, Tano Y. Chediak-Higashi syndrome with progressive visual loss. Jpn J Ophthalmol 2003; 47:304–306.
Sharma P, Nicoli ER, Serra-Vinardell J, et al. Chediak-Higashi syndrome: a review of the past, present, and future. Drug Discov Today Dis Models 2020; 31:31–36.
Nurden P, Stritt S, Favier R, Nurden AT. Inherited platelet diseases with normal platelet count: phenotypes, genotypes and diagnostic strategy. Haematologica 2021; 106:337–350.
White JG, Hess RA, Gahl WA, Introne W. Rapid ultrastructural detection of success or failure after bone marrow transplantation in the Chediak-Higashi syndrome. Platelets 2013; 24:71–74.
Safavi M, Parvaneh N. Chediak Higashi syndrome with hemophagocytic lymphohistiocytosis. Fetal Pediatr Pathol 2022; 42:1–4.
Lozano ML, Rivera J, Sanchez-Guiu I, Vicente V. Towards the targeted management of Chediak-Higashi syndrome. Orphanet J Rare Dis 2014; 9:132.
Filipovich AH, Chandrakasan S. Pathogenesis of hemophagocytic lymphohistiocytosis. Hematol Oncol Clin North Am 2015; 29:895–902.
Gopaal N, Sharma JN, Agrawal V, et al. Chediak-Higashi syndrome with Epstein-Barr virus triggered hemophagocytic lymphohistiocytosis: a case report. Cureus 2020; 12:e11467.
Henter JI, Horne A, Arico M, et al. HLH-2004: diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer 2007; 48:124–131.
Shirazi TN, Snow J, Ham L, et al. The neuropsychological phenotype of Chediak-Higashi disease. Orphanet J Rare Dis 2019; 14:101.
Lehky TJ, Groden C, Lear B, et al. Peripheral nervous system manifestations of Chediak-Higashi disease. Muscle Nerve 2017; 55:359–365.
Koh K, Tsuchiya M, Ishiura H, et al. Chediak-Higashi syndrome presenting as a hereditary spastic paraplegia. J Hum Genet 2022; 67:119–121.
Yliranta A, Makinen J. Chediak-Higashi syndrome: neurocognitive and behavioral data from infancy to adulthood after bone marrow transplantation. Neurocase 2021; 27:1–7.
Bhambhani V, Introne WJ, Lungu C, et al. Chediak-Higashi syndrome presenting as young-onset levodopa-responsive parkinsonism. Mov Disord 2013; 28:127–129.
Westbroek W, Adams D, Huizing M, et al. Cellular defects in Chediak-Higashi syndrome correlate with the molecular genotype and clinical phenotype. J Invest Dermatol 2007; 127:2674–2677.
Faigle W, Raposo G, Tenza D, et al. Deficient peptide loading and MHC class II endosomal sorting in a human genetic immunodeficiency disease: the Chediak-Higashi syndrome. J Cell Biol 1998; 141:1121–1134.
Holt OJ, Gallo F, Griffiths GM. Regulating secretory lysosomes. J Biochem 2006; 140:7–12.
Gil-Krzewska A, Saeed MB, Oszmiana A, et al. An actin cytoskeletal barrier inhibits lytic granule release from natural killer cells in patients with Chediak-Higashi syndrome. J Allergy Clin Immunol 2018; 142:914–927. e6.
Gil-Krzewska A, Wood SM, Murakami Y, et al. Chediak-Higashi syndrome: lysosomal trafficking regulator domains regulate exocytosis of lytic granules but not cytokine secretion by natural killer cells. J Allergy Clin Immunol 2016; 137:1165–1177.
Khanal A, Hajra S, Verma PK, et al. Chediak Higashi syndrome with pancytopenia: a rare presentation of a rare disease and the role of hair shaft microscopy in the diagnosis. Ann Hematol 2022; 101:2775–2776.
Sanchez-Guiu I, Anton AI, Garcia-Barbera N, et al. Chediak-Higashi syndrome: description of two novel homozygous missense mutations causing divergent clinical phenotype. Eur J Haematol 2014; 92:49–58.
Singh A, Jindal AK, Indla R, et al. Importance of morphology in the era of molecular biology: lesson learnt from a case of Chediak-Higashi syndrome. Indian J Hematol Blood Transfus 2021; 37:517–519.
Wang C, Li Q, Zhao X, et al. Identification of novel variants in a Chinese patient with Chediak-Higashi syndrome. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2022; 39:1257–1261.
Song Y, Dong Z, Luo S, et al. Identification of a compound heterozygote in LYST gene: a case report on Chediak-Higashi syndrome. BMC Med Genet 2020; 21:4.
Gomaa NS, Lee JYW, El Sharkawy A, et al. Genetic analysis in Egyptian patients with Chediak-Higashi syndrome reveals new LYST mutations. Clin Exp Dermatol 2019; 44:814–817.
Jin Y, Zhang L, Wang S, et al. Whole genome sequencing identifies novel compound heterozygous lysosomal trafficking regulator gene mutations associated with autosomal recessive Chediak-Higashi syndrome. Sci Rep 2017; 7:41308.
Al-Tamemi S, Al-Zadjali S, Al-Ghafri F, Dennison D. Chediak-Higashi syndrome: novel mutation of the CHS1/LYST gene in 3 Omani patients. J Pediatr Hematol Oncol 2014; 36:e248–e250.
Nagai K, Ochi F, Terui K, et al. Clinical characteristics and outcomes of Chediak-Higashi syndrome: a nationwide survey of Japan. Pediatr Blood Cancer 2013; 60:1582–1586.
Kaya Z, Ehl S, Albayrak M, et al. A novel single point mutation of the LYST gene in two siblings with different phenotypic features of Chediak Higashi syndrome. Pediatr Blood Cancer 2011; 56:1136–1139.
Manoli I, Golas G, Westbroek W, et al. Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1. Am J Med Genet A 2010; 152A:1474–1483.
Morrone K, Wang Y, Huizing M, et al. Two novel mutations identified in an African-American child with Chediak-Higashi syndrome. Case Rep Med 2010; 2010:967535.
Scherber E, Beutel K, Ganschow R, et al. Molecular analysis and clinical aspects of four patients with Chediak-Higashi syndrome (CHS). Clin Genet 2009; 76:409–412.
Runkel F, Bussow H, Seburn KL, et al. Grey, a novel mutation in the murine Lyst gene, causes the beige phenotype by skipping of exon 25. Mamm Genome 2006; 17:203–210.
Zarzour W, Kleta R, Frangoul H, et al. Two novel CHS1 (LYST) mutations: clinical correlations in an infant with Chediak-Higashi syndrome. Mol Genet Metab 2005; 85:125–132.
Mottonen M, Lanning M, Baumann P, Saarinen-Pihkala UM. Chediak-Higashi syndrome: four cases from Northern Finland. Acta Paediatr 2003; 92:1047–1051.
Certain S, Barrat F, Pastural E, et al. Protein truncation test of LYST reveals heterogenous mutations in patients with Chediak-Higashi syndrome. Blood 2000; 95:979–983.
Karim MA, Nagle DL, Kandil HH, et al. Mutations in the Chediak-Higashi syndrome gene (CHS1) indicate requirement for the complete 3801 amino acid CHS protein. Hum Mol Genet 1997; 6:1087–1089.
Nagle DL, Karim MA, Woolf EA, et al. Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome. Nat Genet 1996; 14:307–311.
Boluda-Navarro M, Ibanez M, Liquori A, et al. Case report: Partial uniparental disomy unmasks a novel recessive mutation in the LYST gene in a patient with a severe phenotype of Chediak-Higashi syndrome. Front Immunol 2021; 12:625591.
Dufourcq-Lagelouse R, Lambert N, Duval M, et al. Chediak-Higashi syndrome associated with maternal uniparental isodisomy of chromosome 1. Eur J Hum Genet 1999; 7:633–637.
Jogl G, Shen Y, Gebauer D, et al. Crystal structure of the BEACH domain reveals an unusual fold and extensive association with a novel PH domain. EMBO J 2002; 21:4785–4795.
Neer EJ, Schmidt CJ, Nambudripad R, Smith TF. The ancient regulatory-protein family of WD-repeat proteins. Nature 1994; 371:297–300.
Ward DM, Shiflett SL, Huynh D, et al. Use of expression constructs to dissect the functional domains of the CHS/beige protein: identification of multiple phenotypes. Traffic 2003; 4:403–415.
Tchernev VT, Mansfield TA, Giot L, et al. The Chediak-Higashi protein interacts with SNARE complex and signal transduction proteins. Mol Med 2002; 8:56–64.
Barbosa MD, Nguyen QA, Tchernev VT, et al. Identification of the homologous beige and Chediak-Higashi syndrome genes. Nature 1996; 382:262–265.
Spritz RA. Genetic defects in Chediak-Higashi syndrome and the beige mouse. J Clin Immunol 1998; 18:97–105.
Moore BA, Flenniken AM, Clary D, et al. Genome-wide screening of mouse knockouts reveals novel genes required for normal integumentary and oculocutaneous structure and function. Sci Rep 2019; 9:11211.
Anistoroaei R, Krogh AK, Christensen K. A frameshift mutation in the LYST gene is responsible for the Aleutian color and the associated Chediak-Higashi syndrome in American mink. Anim Genet 2013; 44:178–183.
Kunieda T, Nakagiri M, Takami M, et al. Cloning of bovine LYST gene and identification of a missense mutation associated with Chediak-Higashi syndrome of cattle. Mamm Genome 1999; 10:1146–1149.
Ayers JR, Leipold HW, Padgett GA. Lesions in Brangus cattle with Chediak-Higashi syndrome. Vet Pathol 1988; 25:432–436.
Sjaastad OV, Blom AK, Stormorken H, Nes N. Adenine nucleotides, serotonin, and aggregation properties of platelets of blue foxes ( Alopex lagopus ) with the Chediak-Higashi syndrome. Am J Med Genet 1990; 35:373–378.
Nishimura M, Inoue M, Nakano T, et al. Beige rat: a new animal model of Chediak-Higashi syndrome. Blood 1989; 74:270–273.
Mori M, Yamasaki K, Nakanishi S, et al. A new beige mutant rat ACI/N-Lystbg-Kyo. Exp Anim 2003; 52:31–36.
Buckley RM, Grahn RA, Gandolfi B, et al. Assisted reproduction mediated resurrection of a feline model for Chediak-Higashi syndrome caused by a large duplication in LYST. Sci Rep 2020; 10:64.
Ullate-Agote A, Burgelin I, Debry A, et al. Genome mapping of a LYST mutation in corn snakes indicates that vertebrate chromatophore vesicles are lysosome-related organelles. Proc Natl Acad Sci USA 2020; 117:26307–26317.
Ridgway SH. Reported causes of death of captive killer whales ( Orcinus orca ). J Wildl Dis 1979; 15:99–104.
Taylor RF, Farrell RK. Light and electron-microscopy of peripheral-blood neutrophils in a killer whale affected with Chediak-Higashi syndrome. Fed Proc 1973; 32:822.
Rahman M, Haberman A, Tracy C, et al. Drosophila mauve mutants reveal a role of LYST homologs late in the maturation of phagosomes and autophagosomes. Traffic 2012; 13:1680–1692.
Barrett A, Hermann GJ. A Caenorhabditis elegans homologue of LYST functions in endosome and lysosome-related organelle biogenesis. Traffic 2016; 17:515–535.
Clark R, Griffiths GM. Lytic granules, secretory lysosomes and disease. Curr Opin Immunol 2003; 15:516–521.
Holland P, Torgersen ML, Sandvig K, Simonsen A. LYST affects lysosome size and quantity, but not trafficking or degradation through autophagy or endocytosis. Traffic 2014; 15:1390–1405.
Lattao R, Rangone H, Llamazares S, Glover DM. Mauve/LYST limits fusion of lysosome-related organelles and promotes centrosomal recruitment of microtubule nucleating proteins. Dev Cell 2021; 56:1000–1013. e6.
Ji X, Zhao L, Umapathy A, et al. Deficiency in Lyst function leads to accumulation of secreted proteases and reduced retinal adhesion. PLoS One 2022; 17:e0254469.
Serra-Vinardell J, Sandler MB, De Pace R, et al. LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and size. Cell Mol Life Sci 2023; 80:53.
Siddiahgari S, Soma SK, Penmetcha C, et al. Case series on silvery hair syndromes: single center experience. Indian J Dermatol 2022; 67:164–168.
Shimizu K, Hayashi M, Ito N, et al. Oral management of a haematopoietic stem cell transplant recipient with Chediak-Higashi syndrome. Case Rep Dent 2021; 2021:9918199.
Eapen M, DeLaat CA, Baker KS, et al. Hematopoietic cell transplantation for Chediak-Higashi syndrome. Bone Marrow Transplant 2007; 39:411–415.