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Dergiler / Turkish Journal of Hematology / 2014 / Cilt: 31 - Sayı: 2

Lysosomal Vesicles, Giant Granules, and Erythrophagocytosis in Chédiak-Higashi Syndrome Chediak-Higashi Sendromunda Lizozomal Veziküller, Dev Granüller ve Eritrofagositoz

Burçin BEKEN
Sayfa
109–110
DOI
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Approximately 85% of CHS patients develop a lymphoproliferative infiltration called "accelerated phase" compatible with hemophagocytic lymphohistiocytosis [1].

📌 3 Maddede Bu Makale

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Amaç & Hipotez:Chédiak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized by partial oculocutaneous albinism, recurrent infections, and mild bleeding tendency [1].
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Temel Bulgular & Veri:Mutations in the lysosomal trafficking regulator gene (LYST) localized to chromosome 1q42-q44 are responsible for the disease [2].
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Sonuç & Katkı:Approximately 85% of CHS patients develop a lymphoproliferative infiltration called "accelerated phase" compatible with hemophagocytic lymphohistiocytosis [1].
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Alan Parametreleri

Özet

Chédiak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized by partial oculocutaneous albinism, recurrent infections, and mild bleeding tendency [1]. Mutations in the lysosomal trafficking regulator gene (LYST) localized to chromosome 1q42-q44 are responsible for the disease [2]. Lysosomes of hematopoietic cells, particularly granulocytes and monocytes, are enlarged to form vesicles [3]. Giant inclusions in hematopoietic cells are the most reliable diagnostic clinical criterion for CHS. The main differential diagnosis is Griscelli syndrome, a rare autosomal recessive disorder caused by mutations in the MYO5A or RAB27A genes. This syndrome also manifests with partial albinism and immunodeficiency and it progresses towards the accelerated phase as in CHS, but it differs from CHS in view of the absence of giant intracytoplasmic granules in the leukocytes or by genetic analysis [4,5]. Approximately 85% of CHS patients develop a lymphoproliferative infiltration called "accelerated phase" compatible with hemophagocytic lymphohistiocytosis [1].

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Bu Makaleye Atıf Yap

BEKEN, B. (2014). Lysosomal Vesicles, Giant Granules, and Erythrophagocytosis in Chédiak-Higashi Syndrome Chediak-Higashi Sendromunda Lizozomal Veziküller, Dev Granüller ve Eritrofagositoz. Turkish Journal of Hematology, Cilt: 31 - Sayı: 2, 109–110. https://ajindex.com/articles/412553

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Kaynakça (1)

  1. Introne WJ, Westbroek W, Golas GA, Adams D. Chediak- Higashi syndrome. In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, editors. GeneReviews(TM) [Internet]. Seattle, University of Washington, 1993-2014. 2.Barbosa MD, Barrat FJ, Tchernev VT, Nguyen QA, Mishra VS, Colman SD, Pastural E, Dufourcq-Lagelouse R, Fischer A, Holcombe RF, Wallace MR, Brandt SJ, de Saint Basile G, Kingsmore SF. Identification of mutations in two major mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse. Hum Mol Genet 1997;6:1091-1098. 3.Introne W, Boissy RE, Gahl WA. Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome. Mol Genet Metab 1999;68:283-303. 4.Mancini AJ, Chan LS, Paller AS. Partial albinism with immunodeficiency: Griscelli syndrome: report of a case and review of the literature. J Am Acad Dermatol 1998;38:295- 300. 5.Ménasché G, Pastural E, Feldmann J, Certain S, Ersoy F, Dupuis S, Wulffraat N, Bianchi D, Fischer A, Le Deist F, de Saint Basile G. Mutations in RAB27A cause Griscelli syndrome associated with hemophagocytic syndrome. Nat Genet 2000;25:173-176.