Pulmonary Failure as Presentation of Griscelli Syndrome Type 2

被引:0
作者
Fogsgaard, Stine Fischer [1 ]
Jensen, Jens Magnus Bernth [1 ,2 ]
Glerup, Mia [3 ]
Thim, Signe Bodker [4 ]
Holm, Mette [3 ]
Olesen, Charlotte [5 ,6 ]
Hasle, Henrik [7 ]
Rubak, Sune [4 ,8 ]
机构
[1] Aarhus Univ Hosp AUH, Dept Clin Immunol, Aarhus, Denmark
[2] AUH, Dept Mol Med, Aarhus, Denmark
[3] Dept Paediat & Adolescent Med, Aarhus, Denmark
[4] AUH, Danish Ctr Pediat Pulmonol & Allergol, Dept Pediat & Adolescents Med, Aarhus, Denmark
[5] Univ Res Clin, Hammel Neurorehabil Ctr, Hammel, Denmark
[6] Univ Res Clin, Hammel, Denmark
[7] AUH, Pediat & Adolescent Hlth, Aarhus, Denmark
[8] Aarhus Univ, Dept Clin Med, Aarhus, Denmark
关键词
GUIDELINES;
D O I
10.1002/ppul.27437
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
引用
收藏
页数:3
相关论文
共 5 条
  • [1] HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis
    Henter, Jan-Inge
    Horne, AnnaCarin
    Arico, Maurizio
    Egeler, R. Maarten
    Filipovich, Alexandra H.
    Imashuku, Shinsaku
    Ladisch, Stephan
    McClain, Ken
    Webb, David
    Winiarski, Jacek
    Janka, Gritta
    [J]. PEDIATRIC BLOOD & CANCER, 2007, 48 (02) : 124 - 131
  • [2] Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome
    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
    [J]. NATURE GENETICS, 2000, 25 (02) : 173 - 176
  • [3] Delayed diagnosis of Griscelli syndrome type 2 with compound heterozygote RAB27A variants presenting with pulmonary failure
    Messinger, Yoav H.
    Pozos, Tamara C.
    Griffiths, Anne G.
    Mize, William A.
    Olson, Damon R.
    Smith, Angela R.
    [J]. PEDIATRIC HEMATOLOGY AND ONCOLOGY, 2021, 38 (06) : 593 - 601
  • [4] 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
    Richards, Sue
    Aziz, Nazneen
    Bale, Sherri
    Bick, David
    Das, Soma
    Gastier-Foster, Julie
    Grody, Wayne W.
    Hegde, Madhuri
    Lyon, Elaine
    Spector, Elaine
    Voelkerding, Karl
    Rehm, Heidi L.
    [J]. GENETICS IN MEDICINE, 2015, 17 (05) : 405 - 424
  • [5] Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis:: Molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A
    Stadt, UZ
    Beutel, K
    Kolberg, S
    Schneppenheim, R
    Kabisch, H
    Janka, G
    Hennies, HC
    [J]. HUMAN MUTATION, 2006, 27 (01) : 62 - 68