Pre-transplant decision-making among patients with cartilage-hair hypoplasia

被引:0
|
作者
Gokbak, Merve Nida [1 ]
Vamosi, Boldizsar [2 ]
Goda, Vera [3 ]
Brigatti, Karlla [4 ]
Sweigert, Erin [4 ]
Strauss, Kevin [4 ]
Rider, Nicholas [5 ]
Poskitt, Laura [4 ]
Wright, Nicola [6 ]
Vakkilainen, Svetlana [7 ,8 ]
Walter, Jolan [9 ]
机构
[1] Acibadem Univ, Sch Med, Istanbul, Turkiye
[2] Semmelweis Univ, Budapest, Hungary
[3] Natl Inst Hematol & Infect Dis, Cent Hosp Southern Pest, Bethesda, MD USA
[4] Clin Special Children, Washington, DC USA
[5] Virginia Tech Caril Sch Med, Roanoke, VA USA
[6] Univ Calgary, Calgary, AB, Canada
[7] Univ Helsinki, Helsinki, Finland
[8] Helsinki Univ Hosp, Helsinki, Finland
[9] Johns Hopkin Univ, Univ South Florida, Allergy & Immunol Physician, Baltimore, MD USA
关键词
Cartilage-hair hypoplasia (CHH); Inborn errors of immunity; Immunodeficiency; Hematopoietic stem cell transplant (HSCT); Decision-making;
D O I
10.1016/j.clim.2024.110021
中图分类号
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号
100102 ;
摘要
79
引用
收藏
页数:4
相关论文
共 50 条
  • [21] BIOPHYSICAL AND BIOCHEMICAL STUDIES OF HAIR IN CARTILAGE-HAIR HYPOPLASIA
    KELLING, C
    GOLDSMITH, LA
    BADEN, HP
    CLINICAL GENETICS, 1973, 4 (06) : 500 - 506
  • [22] Identification of mutations in the RMRP gene in patients with Cartilage-Hair Hypoplasia
    Gomes, M. E. S.
    Paternostro, L. C. B.
    Cavalcanti, D. P.
    Felix, T. M.
    Sanseverino, M. V.
    Llerena, J. C., Jr.
    Gonzalez, S. M. C.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 222 - 222
  • [23] Patients with cartilage-hair hypoplasia have an increased risk for bronchiectasis
    Toiviainen-Salo, Sanna
    Kajosaari, Merja
    Piilonen, Anneu
    Makitie, Outi
    JOURNAL OF PEDIATRICS, 2008, 152 (03): : 422 - 428
  • [24] CARTILAGE-HAIR HYPOPLASIA - CLINICAL MANIFESTATIONS IN 108 FINNISH PATIENTS
    MAKITIE, O
    KAITILA, I
    EUROPEAN JOURNAL OF PEDIATRICS, 1993, 152 (03) : 211 - 217
  • [25] CRANIOFACIAL AND DENTAL CHARACTERISTICS OF CARTILAGE-HAIR HYPOPLASIA
    RONNING, O
    MYLLARNIEMI, S
    PERHEENTUPA, J
    CLEFT PALATE JOURNAL, 1978, 15 (01): : 49 - 55
  • [26] IMMUNOLOGICAL STUDIES OF CARTILAGE-HAIR HYPOPLASIA IN THE AMISH
    TROJAK, JE
    POLMAR, SH
    WINKELSTEIN, JA
    HSU, S
    FRANCOMANO, C
    PIERCE, GF
    SCILLIAN, JJ
    GALE, AN
    MCKUSICK, VA
    JOHNS HOPKINS MEDICAL JOURNAL, 1981, 148 (04): : 157 - 164
  • [27] Novel Mutation in Boy With Cartilage-hair Hypoplasia
    Lin, I-Chun
    Yu, Hong-Ren
    Lin, Ying-Jui
    Wang, Tzu-Jou
    PEDIATRICS AND NEONATOLOGY, 2010, 51 (06): : 326 - 329
  • [28] Cartilage-hair hypoplasia. A case report
    Staines-Boones T.A.
    González-Villarreal M.G.
    Hernández-Fernández C.
    Steel and Composite Structures, 2019, 66 (03): : 379 - 383
  • [29] ABNORMAL ELASTIC TISSUE IN CARTILAGE-HAIR HYPOPLASIA
    BRENNAN, TE
    PEARSON, RW
    ARCHIVES OF DERMATOLOGY, 1988, 124 (09) : 1411 - 1414
  • [30] Deficiency of humoral immunity in cartilage-hair hypoplasia
    Mäkitie, O
    Kaitila, I
    Savilahti, E
    JOURNAL OF PEDIATRICS, 2000, 137 (04): : 487 - 492