논문KCI 등재
The First Korean Case of Griscelli Syndrome Type 2 With Hemophagocytic Lymphohistiocytosis and Partial Albinism
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참고문헌 (10)
- Henter JI, "HLH-2004 : Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis", Pediatr Blood Cancer, 48, pp.124~131 (2007)
- Janka G, "Infection-and malignancy-associated hemophagocytic syndromes : secondary hemophagocytic lymphohistiocytosis", Hematol Oncol Clin North Am, 12, pp.435~444 (1998)
- Griscelli C, "A syndrome associating partial albinism and immunodeficiency", Am J Med, 65, pp.691~702 (1978)
- Richards S, "Standards and guidelines for the interpretation of sequence variants : a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology", Genet Med, 17, pp.405~424 (2015)
- Lee JYW, "Further evidence for genotype–phenotype disparity in Griscelli syndrome", Br J Dermatol, 176, pp.1086~1089 (2017)
- Ohbayashi N, "Functional characterization of two RAB27A missense mutations found in Griscelli syndrome type 2", Pigment Cell Melanoma Res, 23, pp.365~374 (2010)
- Ohishi Y, "Griscelli syndrome type 2 sine albinism : unraveling differential RAB27A effector engagement", Front Immunol, 11, pp.612977~ (2020)
- Fukuda M, "Rab27 effectors, pleiotropic regulators in secretory pathways", Traffic, 14, pp.949~963 (2013)
- Meeths M, "Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations", Pediatr Blood Cancer, 54, pp.563~572 (2010)
- Al-Sulaiman R, "A founder RAB27A variant causes Griscelli syndrome type 2 with phenotypic heterogeneity in Qatari families", Am J Med Genet A, 182, pp.2570~2580 (2020)
관련 논문AI추천
First Report on Familial Hemophagocytic Lymphohistiocytosis with an Abnormal Immunophenotype and T Cell Monoclonality in Korea구홍회, 김대식, 김선희, 김희진, 신상용, 유건희, 이경훈, 이승태, 장미애대한진단검사의학회 · Annals of Laboratory Medicine2015 · 제35권 제1호Familial Hemophagocytic Lymphohistiocytosis Type 2 in a Korean Infant With Compound Heterozygous PRF1 Defects Involving a PRF1 Mutation, c.1091T>G김민선, 박찬정, 서을주, 임호준, 장성수, 조영욱대한진단검사의학회 · Annals of Laboratory Medicine2017 · 제37권 제2호A Novel Syntaxin 11 Gene (STX11) Mutation c.650T>C, p.Leu217Pro, in a Korean Child With Familial Hemophagocytic Lymphohistiocytosis조빈, 김명신, 김용구, 박준홍, 이재욱, 장필상, 정낙균, Ardak K. Sultanova, Seong Koo Kim대한진단검사의학회 · Annals of Laboratory Medicine2016 · 제36권 제2호A Case of Phacomatosis Pigmentovascularis Type IIa in a Korean Infant김상석, 김철우, 박소은, 이진용, 하재원, 함지은대한피부과학회 · Annals of Dermatology2017 · 제29권 제5호The First Korean Child of Jalili Syndrome with a Novel Missense Mutation in Cation Transport Mediator (CNNM4): A Case Report김명신, Ji Hye Lee, Ji Sook Yim, Shin Hae Park, Sin-Young Kim대한안과학회 · Korean Journal of Ophthalmology2023 · 제37권 제2호Variants of LYST and Novel STK4 Gene Mutation in a Child With Accelerated Chediak Higashi SyndromeAbu Bakar Asrar, Ismail Intan Hakimah, Nachiappan Jeyaseelan P., Shunmugarajoo Haema대한소아감염학회 · Pediatric Infection and Vaccine2024 · 제31권 제1호
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