Rubinstein-Taybi syndrome with humoral and cellular defects: a case report

被引：15
作者：
Villella, A
Bialostocky, D
Lori, E
Meyerson, H
Hostoffer, RW
机构：
[1] Rainbow Babies & Childrens Hosp, Dept Pediat, Cleveland, OH 44106 USA
[2] Hosp Infantil Mexico Dr Federico Gomez, Mexico City, DF, Mexico
[3] Univ Hosp Cleveland, Dept Pathol, Cleveland, OH 44106 USA
来源：
ARCHIVES OF DISEASE IN CHILDHOOD | 2000年 / 83卷 / 04期
关键词：
Rubinstein-Taybi syndrome; immunodeficiency;
D O I：
10.1136/adc.83.4.360
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
The first association of Rubinstien-Taybi syndrome with immunodeficiency and the successful prevention of infection with intravenous IgG is reported in a 4 year old boy. This case suggests that immunodeficiency maybe a prominent feature of this syndrome and may predispose these patients to recurrent infections.
引用
收藏
页码：360 / 361
页数：2
相关论文
共 50 条
  • [31] Prevalence of Immunological Defects in a Cohort of 97 Rubinstein-Taybi Syndrome Patients
    Saettini, Francesco
    Herriot, Richard
    Prada, Elisabetta
    Nizon, Mathilde
    Zama, Daniele
    Marzollo, Antonio
    Romaniouk, Igor
    Lougaris, Vassilios
    Cortesi, Manuela
    Morreale, Alessia
    Kosaki, Rika
    Cardinale, Fabio
    Ricci, Silvia
    Dominguez-Garrido, Elena
    Montin, Davide
    Vincent, Marie
    Milani, Donatella
    Biondi, Andrea
    Gervasini, Cristina
    Badolato, Raffaele
    JOURNAL OF CLINICAL IMMUNOLOGY, 2020, 40 (06) : 851 - 860
  • [32] RUBINSTEIN-TAYBI SYNDROME WITH THYMIC HYPOPLASIA
    KIMURA, H
    ITO, Y
    KODA, Y
    HASE, Y
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1993, 46 (03): : 293 - 296
  • [33] CARDIAC ABNORMALITIES IN THE RUBINSTEIN-TAYBI SYNDROME
    STEVENS, CA
    BHAKTA, MG
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1995, 59 (03): : 346 - 348
  • [34] A CEPHALOMETRIC STUDY IN RUBINSTEIN-TAYBI SYNDROME
    HENNEKAM, RCM
    VANDENBOOGAARD, MJ
    VANDOORNE, JM
    JOURNAL OF CRANIOFACIAL GENETICS AND DEVELOPMENTAL BIOLOGY, 1991, 11 (01): : 33 - 40
  • [35] Patellar dislocation in Rubinstein-Taybi syndrome
    Stevens, CA
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1997, 72 (02): : 188 - 190
  • [36] Report of Hidradenitis Suppurativa in an Individual Affected by Rubinstein-Taybi Syndrome
    Wanberg, Erik J.
    Fletcher, Kathleen M.
    Mohandesi, Nessa Aghazadeh
    Alavi, Afsaneh
    PEDIATRIC DERMATOLOGY, 2025,
  • [37] Psychopathology, GABA, and the Rubinstein-Taybi syndrome: A review and case study
    Hellings, JA
    Hossain, S
    Martin, JK
    Baratang, RR
    AMERICAN JOURNAL OF MEDICAL GENETICS, 2002, 114 (02): : 190 - 195
  • [38] A Case Report of Rubinstein-Taybi Syndrome Presenting with Extensive Keloid Formation and Review of Literature
    Kim, Jee-Woo
    Ko, Jung Min
    Lee, Dong Yoon
    Shin, Jung-Won
    ANNALS OF DERMATOLOGY, 2023, 35 : S19 - S24
  • [39] Rubinstein-Taybi syndrome with normal FISH result and CREBBP gene analysis:: a case report
    Balci, Sevim
    Erguen, Mehmet Ali
    Yueksel-Konuk, E. Berrin
    Bartsch, Oliver
    TURKISH JOURNAL OF PEDIATRICS, 2008, 50 (03) : 265 - 268
  • [40] Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder
    Van Gils, Julien
    Magdinier, Frederique
    Fergelot, Patricia
    Lacombe, Didier
    GENES, 2021, 12 (07)
12345