Hematopoietic stem cell transplantation corrects the immunologic abnormalities associated with immunodeficiency-centromeric instability-facial dysmorphism syndrome.

Abstract:

:Immunodeficiency-centromeric instability-facial dysmorphism syndrome, characterized by variable immunodeficiency, centromeric instability, and facial anomalies caused by epigenetic dysregulation resulting in hypomethylation, is caused in many patients by mutations in DNMT3B, a DNA methyltransferase gene; associated infections are a major cause of serious sequelae and death. Hematopoietic stem cell transplantation may improve the clinical course in immunodeficiency-centromeric instability-facial dysmorphism syndrome. We report 3 unrelated patients with persistent infections and intestinal complications who successfully underwent hematopoietic stem cell transplantation after nonmyeloablative or myeloablative conditioning regimens using HLA-matched donors. In all cases, donor chimerism led to resolution of intestinal complications and infections, growth improvement, and correction of the immunodeficiency.

journal_name

Pediatrics

journal_title

Pediatrics

authors

Gennery AR,Slatter MA,Bredius RG,Hagleitner MM,Weemaes C,Cant AJ,Lankester AC

doi

10.1542/peds.2007-0640

subject

Has Abstract

pub_date

2007-11-01 00:00:00

pages

e1341-4

issue

5

eissn

0031-4005

issn

1098-4275

pii

peds.2007-0640

journal_volume

120

pub_type

杂志文章
  • Safety of withdrawing inhaled nitric oxide therapy in persistent pulmonary hypertension of the newborn.

    abstract:OBJECTIVE:Because of case reports describing hypoxemia on withdrawal of inhaled nitric oxide (I-NO), we prospectively examined this safety issue in newborns with persistent pulmonary hypertension who were classified as treatment successes or failures during a course of I-NO therapy. METHODS:Randomized, placebo-control...

    journal_title:Pediatrics

    pub_type: 临床试验,杂志文章,多中心研究,随机对照试验

    doi:10.1542/peds.104.2.231

    authors: Davidson D,Barefield ES,Kattwinkel J,Dudell G,Damask M,Straube R,Rhines J,Chang CT

    更新日期:1999-08-01 00:00:00

  • Montelukast, compared with fluticasone, for control of asthma among 6- to 14-year-old patients with mild asthma: the MOSAIC study.

    abstract:BACKGROUND:Guidelines recommend daily controller therapy for mild persistent asthma. Montelukast has demonstrated consistent benefit in controlling symptoms of asthma and may be an alternative, orally administered, nonsteroidal agent for treating mild asthma. METHODS:The Montelukast Study of Asthma in Children (MOSAIC...

    journal_title:Pediatrics

    pub_type: 杂志文章,多中心研究,随机对照试验

    doi:10.1542/peds.2004-1172

    authors: Garcia Garcia ML,Wahn U,Gilles L,Swern A,Tozzi CA,Polos P

    更新日期:2005-08-01 00:00:00

  • Effect of phototherapy on nitrogen and electrolyte levels and water balance in jaundiced preterm infants.

    abstract::Twenty-four-hour metabolic balance studies were performed in ten jaundiced preterm infants, five light-treated (phototherapy) and five controls. Each of the light-treated infants was studied twice, once during phototherapy (period I) and once 48 hours after phototherapy (period II). Control infants were similarly stud...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Wu PY,Moosa A

    更新日期:1978-02-01 00:00:00

  • Iron absorption from human milk, simulated human milk, and proprietary formulas.

    abstract::Studies from our laboratory have shown that iron is better absorbed from human milk than from cow milk and that human milk can provide insufficient iron for infants during their first year. We compared iron availability from human milk with that from other formulas and determined the factors responsible for its superi...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: McMillan JA,Oski FA,Lourie G,Tomarelli RM,Landaw SA

    更新日期:1977-12-01 00:00:00

  • Prescribing assistive-technology systems: focus on children with impaired communication.

    abstract::This clinical report defines common terms of use and provides information on current practice, research, and limitations of assistive technology that can be used in systems for communication. The assessment process to determine the best devices for use with a particular child (ie, the best fit of a device) is also rev...

    journal_title:Pediatrics

    pub_type: 杂志文章,实务指引

    doi:10.1542/peds.2008-0695

    authors: Desch LW,Gaebler-Spira D,Council on Children With Disabilities.

    更新日期:2008-06-01 00:00:00

  • Nasal continuous positive airway pressure and early surfactant therapy for respiratory distress syndrome in newborns of less than 30 weeks' gestation.

    abstract:OBJECTIVE:To determine whether early versus late treatment with porcine surfactant (Curosurf) reduces the requirement of mechanical ventilation in very preterm infants primarily supported by nasal continuous positive airway pressure (nasal CPAP). DESIGN:Multicenter randomized, controlled trial. PATIENTS:The study pop...

    journal_title:Pediatrics

    pub_type: 临床试验,杂志文章,多中心研究,随机对照试验

    doi:10.1542/peds.103.2.e24

    authors: Verder H,Albertsen P,Ebbesen F,Greisen G,Robertson B,Bertelsen A,Agertoft L,Djernes B,Nathan E,Reinholdt J

    更新日期:1999-02-01 00:00:00

  • Sodium space and intravascular volume: dietary sodium effects in cystic fibrosis and healthy adolescent subjects.

    abstract:OBJECTIVE:To assess the physiologic response to salt depletion in subjects with cystic fibrosis (CF) and control male adolescents for sodium balance, sodium space, and stimulation of the renin-angiotensin-aldosterone axis. DESIGN:Seven subjects with CF and six controls received a salt-replete (150 or 290 mmol NaCl per...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.101.1.48

    authors: Legris GJ,Dearborn D,Stern RC,Geiss CL,Hopfer U,Douglas JG,Doershuk CF

    更新日期:1998-01-01 00:00:00

  • Diagnosis of ill-defined pulmonary infiltrates by lateral decubitus chest radiography.

    abstract::The lateral decubitus chest radiograph is a useful procedure in the evaluation of ill-defined pulmonary densities that may stimulate infiltrates. This procedure, although described previously in the radiologic literature, has not been in frequent use. The procedure assists diagnosis in patients who are not able to tak...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Faerber EN,Darling DB,Leonidas JC

    更新日期:1983-02-01 00:00:00

  • Injury patterns in obese versus nonobese children presenting to a pediatric emergency department.

    abstract:BACKGROUND:Two of the most prevalent problems facing youth in the United States are injury and obesity. Obesity increases the risk of injury, prolongs recovery time, and increases morbidity among injured children. OBJECTIVE:The purpose of this study was to compare characteristics of injuries between obese and nonobese...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2009-2367

    authors: Pomerantz WJ,Timm NL,Gittelman MA

    更新日期:2010-04-01 00:00:00

  • Utilization of medical and health-related services among school-age children and adolescents with special health care needs (1994 National Health Interview Survey on Disability [NHIS-D] Baseline Data).

    abstract:OBJECTIVE:To determine how sociodemographic factors and type of insurance influence use of medical and health-related services by children with special health care needs (CSHCN), after controlling for need. METHODS:A cross-sectional analysis of 1994 National Health Interview Disability Survey was conducted. Children b...

    journal_title:Pediatrics

    pub_type: 杂志文章,多中心研究

    doi:10.1542/peds.112.3.593

    authors: Weller WE,Minkovitz CS,Anderson GF

    更新日期:2003-09-01 00:00:00

  • The epidemiology and clinical features of Kawasaki disease in Australia.

    abstract:OBJECTIVES:The current Australian epidemiology of Kawasaki disease (KD) is poorly defined. Previous enhanced surveillance (1993-1995) estimated an incidence of 3.7/100,000 <5 years. METHODS:We identified all patients hospitalized in Western Australia (current population ∼2.4 million) 1979 through 2009 with a discharge...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2013-2936

    authors: Saundankar J,Yim D,Itotoh B,Payne R,Maslin K,Jape G,Ramsay J,Kothari D,Cheng A,Burgner D

    更新日期:2014-04-01 00:00:00

  • Effect of age and sedative agent on the accuracy of bispectral index in detecting depth of sedation in children.

    abstract:OBJECTIVE:This study evaluated age- and sedative agent-related differences in bispectral index across observed sedation levels in a large sample of children < 18 years of age. PATIENTS AND METHODS:With institutional review board approval and waiver of consent, data from 4 independently conducted studies were combined ...

    journal_title:Pediatrics

    pub_type: 杂志文章,meta分析

    doi:10.1542/peds.2006-2577

    authors: Malviya S,Voepel-Lewis T,Tait AR,Watcha MF,Sadhasivam S,Friesen RH

    更新日期:2007-09-01 00:00:00

  • Preimmunization anti-pneumococcal antibody levels are protective in a majority of patients with cystic fibrosis.

    abstract:OBJECTIVE:Although invasive pneumococcal disease is infrequent in cystic fibrosis (CF), it is recommended that all patients with CF receive pneumococcal immunization. As part of a comprehensive program to immunize our clinic population, we obtained preimmunization anti-pneumococcal antibody levels. We hypothesized that...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.108.4.e62

    authors: Lahiri T,Waltz DA

    更新日期:2001-10-01 00:00:00

  • Stakeholder Perspectives on Research and Practice in Autism and Transition.

    abstract:OBJECTIVES:Individuals with autism spectrum disorder (ASD) are reported to experience significant challenges during the transition to adulthood. Although recent evidence indicates that individuals with ASD experience poor outcomes in adulthood, little is understood about the contributing factors. In this qualitative st...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2016-4300F

    authors: Kuo AA,Crapnell T,Lau L,Anderson KA,Shattuck P

    更新日期:2018-04-01 00:00:00

  • Emotional, developmental, and behavioral health of American children and their families: a report from the 2003 National Survey of Children's Health.

    abstract:BACKGROUND:Recent children's health surveys have documented a high prevalence of emotional, developmental, and behavioral problems among children. Data from the 2003 National Survey of Children's Health provide new insights into these problems and their association with family function and community participation. Thes...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2005-2606

    authors: Blanchard LT,Gurka MJ,Blackman JA

    更新日期:2006-06-01 00:00:00

  • In utero exposure to dichlorodiphenyltrichloroethane (DDT) and dichlorodiphenyldichloroethylene (DDE) and neurodevelopment among young Mexican American children.

    abstract:OBJECTIVE:We investigated the relationship between prenatal exposure to dichlorodiphenyltrichloroethane (DDT) and dichlorodiphenyldichloroethylene (DDE) and neurodevelopment of Mexican farm-workers' children in California. METHODS:Participants from the Center for the Health Assessment of Mothers and Children of Salina...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2005-3117

    authors: Eskenazi B,Marks AR,Bradman A,Fenster L,Johnson C,Barr DB,Jewell NP

    更新日期:2006-07-01 00:00:00

  • Extracorporeal membrane oxygenation and conventional medical therapy in neonates with persistent pulmonary hypertension of the newborn: a prospective randomized study.

    abstract::Thirty-nine newborn infants with severe persistent pulmonary hypertension and respiratory failure who met criteria for 85% likelihood of dying were enrolled in a randomized trial in which extracorporeal membrane oxygenation (ECMO) therapy was compared with conventional medical therapy (CMT). In phase I, 4 of 10 babies...

    journal_title:Pediatrics

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:

    authors: O'Rourke PP,Crone RK,Vacanti JP,Ware JH,Lillehei CW,Parad RB,Epstein MF

    更新日期:1989-12-01 00:00:00

  • Standardizing the Evaluation of Nonaccidental Trauma in a Large Pediatric Emergency Department.

    abstract:BACKGROUND AND OBJECTIVES:Variability exists in the evaluation of nonaccidental trauma (NAT) in the pediatric emergency department because of misconceptions and individual bias of clinicians. Further maltreatment, injury, and death can ensue if these children are not evaluated appropriately. The implementation of guide...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2017-1994

    authors: Riney LC,Frey TM,Fain ET,Duma EM,Bennett BL,Murtagh Kurowski E

    更新日期:2018-01-01 00:00:00

  • Blue rubber bleb nevus syndrome: successful treatment with sirolimus.

    abstract::Blue rubber bleb nevus syndrome (BRBNS) is a rare disorder with characteristic vascular malformations of the skin, gastrointestinal system, and, less often, other organ systems. The characteristic cutaneous lesions consist of deep-blue, soft, rubbery blebs, which are easily compressible. The most serious complication ...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2010-3611

    authors: Yuksekkaya H,Ozbek O,Keser M,Toy H

    更新日期:2012-04-01 00:00:00

  • Maternal and infant factors associated with failure to thrive in children with vertically transmitted human immunodeficiency virus-1 infection: the prospective, P2C2 human immunodeficiency virus multicenter study.

    abstract:OBJECTIVE:Many children with human immunodeficiency virus-1 (HIV-1) have chronic problems with growth and nutrition, yet limited information is available to identify infected children at high risk for growth abnormalities. Using data from the prospective, multicenter P2C2 HIV study, we evaluated the relationships betwe...

    journal_title:Pediatrics

    pub_type: 杂志文章,多中心研究

    doi:10.1542/peds.108.6.1287

    authors: Miller TL,Easley KA,Zhang W,Orav EJ,Bier DM,Luder E,Ting A,Shearer WT,Vargas JH,Lipshultz SE,Pediatric Pulmonary and Cardiovascular Complications of Vertically Transmitted HIV Infection (P2C2 HIV) Study Group.,National Heart, Lung,

    更新日期:2001-12-01 00:00:00

  • Ultrasonography: an aid in the diagnosis of masses in pediatric patients.

    abstract::Ultrasound was used to evaluate 100 pediatric patients suspected of having a mass. This technique was found to be useful in several ways: (1) differentiation of cystic, solid, and complex masses, which is not usually possible with routine roentgenographic evaluation; (2) delineation of free fluid collections from thos...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Goldberg BB,Pollack HM,Capitanio MA,Kirkpatrick JA

    更新日期:1975-09-01 00:00:00

  • Sweet syndrome associated with G-CSF treatment in a child with glycogen storage disease type Ib.

    abstract::Acute febrile neutrophilic dermatosis (Sweet syndrome) is rare in children and is regularly associated with underlying malignancies or inflammtory diseases. A 5-year-old girl with glycogen storage disease type Ib, neutropenia, and recurrent infections developed characteristic skin eruption of Sweet syndrome after 2 ye...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Garty BZ,Levy I,Nitzan M,Barak Y

    更新日期:1996-03-01 00:00:00

  • Attention deficit disorder with and without hyperactivity: clinical response to three dose levels of methylphenidate.

    abstract::The response of 23 children with attention deficit disorder (ADD) with hyperactivity (+H) and 17 children with ADD without hyperactivity (-H) to three doses of methylphenidate (5, 10, and 15 mg twice a day) was evaluated in a triple-blind, placebo-controlled cross-over design using parent and teacher ratings of behavi...

    journal_title:Pediatrics

    pub_type: 临床试验,杂志文章

    doi:

    authors: Barkley RA,DuPaul GJ,McMurray MB

    更新日期:1991-04-01 00:00:00

  • Renal transplantation in children ages 1 to 5 years.

    abstract::Renal transplantation was carried out in 21 children ages 1 to 5 years. Eighteen received grafts from a living, related donor (LRD). Four children died, one following rejection, and three because of infection. Five children lost their initial grafts and two have received new transplants. Cumulative patient survival tw...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.61.3.458

    authors: Hodson EM,Najarian JS,Kjellstrand CM,Simmons RL,Mauer SM

    更新日期:1978-03-01 00:00:00

  • Trisomy 18 and complex congenital heart disease: seeking the threshold benefit.

    abstract::A prenatal diagnosis of ductal-dependent, complex congenital heart disease was made in a fetus with trisomy 18. The parents requested that the genetic diagnosis be excluded from all medical and surgical decision-making and that all life-prolonging therapies be made available to their infant. There was conflict among t...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2012-3643

    authors: Boss RD,Holmes KW,Althaus J,Rushton CH,McNee H,McNee T

    更新日期:2013-07-01 00:00:00

  • Adolescents with cystic fibrosis: family reports of adolescent health-related quality of life and forced expiratory volume in one second.

    abstract:PURPOSE:To assess the relationship between adolescent and parent reports of adolescent health-related quality of life (HRQL) and between adolescent pulmonary function (forced expiratory volume in 1 second as percent of predicted) and reporter perceptions of adolescent health. METHODS:Twenty-four adolescents with cysti...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.107.5.e70

    authors: Powers PM,Gerstle R,Lapey A

    更新日期:2001-05-01 00:00:00

  • Improving depression screening for adolescents with type 1 diabetes.

    abstract:OBJECTIVE:Depression is common among adolescents, but rates increase significantly in the presence of chronic health conditions. Outpatient screening for depression is recommended but rarely formally conducted due to barriers of implementation. METHODS:To provide a model for depression screening of youth with chronic ...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2013-0681

    authors: Corathers SD,Kichler J,Jones NH,Houchen A,Jolly M,Morwessel N,Crawford P,Dolan LM,Hood KK

    更新日期:2013-11-01 00:00:00

  • Intentional poisoning of children--an overlooked category of child abuse: report of seven cases and review of the literature.

    abstract::Seven instances of child abuse due to poisoning are reported; two of the children died. Forty-one cases of this form of poisoning are found in the literature. Of the total of 48 children, eight (17%) died as a result of the incident; and one was mentally retarded. The seven different agents described here are alcohol,...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Dine MS,McGovern ME

    更新日期:1982-07-01 00:00:00

  • Safety of vaccines used for routine immunization of U.S. children: a systematic review.

    abstract:BACKGROUND:Concerns about vaccine safety have led some parents to decline recommended vaccination of their children, leading to the resurgence of diseases. Reassurance of vaccine safety remains critical for population health. This study systematically reviewed the literature on the safety of routine vaccines recommende...

    journal_title:Pediatrics

    pub_type: 杂志文章,评审

    doi:10.1542/peds.2014-1079

    authors: Maglione MA,Das L,Raaen L,Smith A,Chari R,Newberry S,Shanman R,Perry T,Goetz MB,Gidengil C

    更新日期:2014-08-01 00:00:00

  • Fluoroquinolone safety in pediatric patients: a prospective, multicenter, comparative cohort study in France.

    abstract:OBJECTIVE:To evaluate the safety of fluoroquinolones (FQ) in comparison with other antibiotics in pediatric patients. METHODS:A multicenter, observational, comparative cohort study was conducted between 1998 and 2000 in French pediatric departments. Patients who were receiving systemic FQ were included and matched to ...

    journal_title:Pediatrics

    pub_type: 临床试验,杂志文章,多中心研究

    doi:10.1542/peds.111.6.e714

    authors: Chalumeau M,Tonnelier S,D'Athis P,Tréluyer JM,Gendrel D,Bréart G,Pons G,Pediatric Fluoroquinolone Safety Study Investigators.

    更新日期:2003-06-01 00:00:00