Griscelli syndrome:: Description of a case with Rab27A mutation

被引:18
作者
Aslan, D
Sari, S
Derinöz, O
Dalgiç, B
机构
[1] Gazi Univ, Fac Med, Dept Pediat, Sect Hematol, Ankara, Turkey
[2] Gazi Univ, Fac Med, Dept Pediat, Gastroenterol Sect, Ankara, Turkey
关键词
griscelli syndrome; partial albinism; Rab27A;
D O I
10.1080/08880010500506909
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
A 7-month-old Turkish boy presented with partial albinism and typical clinical features of an accelerated phase, suggesting the diagnosis of Griscelli syndrome. The diagnosis was confirmed by light microscopic evaluation of hair and a peripheral blood smear. Genetic analysis identified a mutation in the Rab27A gene. He was initiated immunosuppressive treatment but accelerated phase could not be ameliorated. He unfortunately died from multiorgan failure. The finding of partial albinism in children should alert clinicians to consider Griscelli syndrome since simple methods can corfirm the diagnosis and early diagnosis is life-saving.
引用
收藏
页码:255 / 261
页数:7
相关论文
共 50 条
  • [1] A Novel RAB27A Mutation in a Patient With Griscelli Syndrome Type 2
    Shamsian, B. S.
    Norbakhsh, K.
    Rezaei, N.
    Safari, A.
    Gharib, A.
    Pourpak, Z.
    Alavi, S.
    Parvaneh, N.
    Arzanian, M. T.
    JOURNAL OF INVESTIGATIONAL ALLERGOLOGY AND CLINICAL IMMUNOLOGY, 2010, 20 (07) : 612 - 615
  • [2] Clinical Presentation of Griscelli Syndrome Type 2 and Spectrum of RAB27A Mutations
    Meeths, Marie
    Bryceson, Yenan T.
    Rudd, Eva
    Zheng, Chengyun
    Wood, Stephanie M.
    Ramme, Kim
    Beutel, Karin
    Hasle, Henrik
    Heilmann, Carsten
    Hultenby, Kjell
    Ljunggren, Hans-Gustaf
    Fadeel, Bengt
    Nordenskjold, Magnus
    Henter, Jan-Inge
    PEDIATRIC BLOOD & CANCER, 2010, 54 (04) : 563 - 572
  • [3] A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndrome
    Westbroek, Wendy
    Tuchman, Maya
    Tinloy, Bradford
    De Wever, Olivier
    Vilboux, Thierry
    Hertz, Jens M.
    Hasle, Henrik
    Heilmann, Carsten
    Helip-Wooley, Amanda
    Kleta, Robert
    Gahl, William A.
    MOLECULAR GENETICS AND METABOLISM, 2008, 94 (02) : 248 - 254
  • [4] Griscelli syndrome:: Characterization of a new mutation and rescue of T-cytotoxic activity by retroviral transfer of RAB27A gene
    Bizario, JCS
    Feldmann, J
    Castro, FA
    Ménasché, G
    Jacob, CMA
    Cristofani, L
    Casella, EB
    Voltarelli, JC
    De Saint-Basile, G
    Espreafico, EM
    JOURNAL OF CLINICAL IMMUNOLOGY, 2004, 24 (04) : 397 - 410
  • [5] Griscelli Syndrome: Characterization of a New Mutation and Rescue of T-Cytotoxic Activity by Retroviral Transfer of RAB27A Gene
    João C. S. Bizario
    Jérôme Feldmann
    Fabíola A. Castro
    Gaël Ménasché
    Cristina M. A. Jacob
    L. Cristofani
    Erasmo B. Casella
    Júlio C. Voltarelli
    Geneviève de Saint-Basile
    Enilza M. Espreafico
    Journal of Clinical Immunology, 2004, 24 : 397 - 410
  • [6] Functional characterization of two RAB27A missense mutations found in Griscelli syndrome type 2
    Ohbayashi, Norihiko
    Mamishi, Setareh
    Ishibashi, Koutaro
    Maruta, Yuto
    Pourakbari, Babak
    Tamizifar, Banafshe
    Mohammadpour, Masoud
    Fukuda, Mitsunori
    Parvaneh, Nima
    PIGMENT CELL & MELANOMA RESEARCH, 2010, 23 (03) : 365 - 374
  • [7] Analysis of RAB27A gene in griscelli syndrome type 2:: Novel mutations including a deletion hotspot
    Mamishi, Setareh
    Modarressi, Mohammad Hossein
    Pourakbari, Babak
    Tamizifar, Banafshe
    Mahjoub, Fatemeh
    Fahimzad, Alireza
    Alyasin, Soheila
    Bemanian, Mohamad Hassan
    Hamidiyeh, Amir Ali
    Fazlollahi, Mohammad Reza
    Ashrafi, Mahmoud Reza
    Isaeian, Anna
    Khotaei, Ghamartaj
    Yeganeh, Mehdi
    Parvaneh, Nima
    JOURNAL OF CLINICAL IMMUNOLOGY, 2008, 28 (04) : 384 - 389
  • [8] Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2
    Vincent, Lisa M.
    Gilbert, Fred
    DiPace, Jennifer I.
    Ciccone, Carla
    Markello, Thomas C.
    Jeong, Andrew
    Dorward, Heidi
    Westbroek, Wendy
    Gahl, William A.
    Bussel, James B.
    Huizing, Marjan
    MOLECULAR GENETICS AND METABOLISM, 2010, 101 (01) : 62 - 65
  • [9] Analysis of RAB27A Gene in Griscelli Syndrome type 2: Novel Mutations Including a Deletion Hotspot
    Setareh Mamishi
    Mohammad Hossein Modarressi
    Babak Pourakbari
    Banafshe Tamizifar
    Fatemeh Mahjoub
    Alireza Fahimzad
    Soheila Alyasin
    Mohamad Hassan Bemanian
    Amir Ali Hamidiyeh
    Mohammad Reza Fazlollahi
    Mahmoud Reza Ashrafi
    Anna Isaeian
    Ghamartaj Khotaei
    Mehdi Yeganeh
    Nima Parvaneh
    Journal of Clinical Immunology, 2008, 28 : 384 - 389
  • [10] Griscelli syndrome-type 2 in twin siblings: case report and update on RAB27A human mutations and gene structure
    Meschede, I. P.
    Santos, T. O.
    Izidoro-Toledo, T. C.
    Gurgel-Gianetti, J.
    Espreafico, E. M.
    BRAZILIAN JOURNAL OF MEDICAL AND BIOLOGICAL RESEARCH, 2008, 41 (10) : 839 - 848