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
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
[41]   Congenital hypothyroidism associated with Rubinstein-Taybi syndrome [J].
Kurtoglu, S ;
Akcakus, M ;
Gunes, T ;
Cetin, N ;
Topaloglu, N .
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2003, 16 (03) :457-459
[42]   Growth Charts for Individuals with Rubinstein-Taybi Syndrome [J].
Beets, Lex ;
Rodriguez-Fonseca, Cristina ;
Hennekam, Raoul C. .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2014, 164 (09) :2300-2309
[43]   Instability of the patellofemoral joint in Rubinstein-Taybi syndrome [J].
Mehlman, CT ;
Rubinstein, JH ;
Roy, DR .
JOURNAL OF PEDIATRIC ORTHOPAEDICS, 1998, 18 (04) :508-511
[44]   Inheritance and Variable Expression in Rubinstein-Taybi Syndrome [J].
Bartsch, Oliver ;
Kress, Wolfram ;
Kempf, Olga ;
Lechno, Stanislav ;
Haaf, Thomas ;
Zechner, Ulrich .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2010, 152A (09) :2254-2261
[45]   Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome [J].
Andrade Bueno, Ana Laura ;
Vieira de Souza, Maria Emilia ;
Graziadio, Carla ;
Kiszewski, Ana Elisa .
ANAIS BRASILEIROS DE DERMATOLOGIA, 2020, 95 (05) :619-622
[46]   Congenital glaucoma associated with Rubinstein-Taybi syndrome [J].
Quaranta, L ;
Quaranta, CA .
ACTA OPHTHALMOLOGICA SCANDINAVICA, 1998, 76 (01) :112-113
[47]   Dental management of a patient with Rubinstein-Taybi syndrome [J].
Morales-Chavez, Mariana C. .
SPECIAL CARE IN DENTISTRY, 2010, 30 (03) :124-126
[48]   Anaesthetic Management of Children with Rubinstein-Taybi Syndrome [J].
Karahan, Mahmut Alp ;
Sert, Huseyin ;
Ayhan, Zeliha ;
Ayhan, Bulend .
TURKISH JOURNAL OF ANAESTHESIOLOGY AND REANIMATION, 2016, 44 (03) :152-154
[49]   Benign and malignant tumors in Rubinstein-Taybi syndrome [J].
Boot, Max V. ;
van Belzen, Martine J. ;
Overbeek, Lucy I. ;
Hijmering, Nathalie ;
Mendeville, Matias ;
Waisfisz, Quinten ;
Wesseling, Pieter ;
Hennekam, Raoul C. ;
de Jong, Daphne .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2018, 176 (03) :597-608
[50]   Kimura disease in a patient with Rubinstein-Taybi syndrome [J].
Kim, CJ ;
Nam, JH ;
Chung, HY ;
Kook, JH ;
Kim, SY ;
Woo, YJ .
PEDIATRICS INTERNATIONAL, 2004, 46 (05) :609-611