Abstract:
:Dedicator of cytokinesis 8 (DOCK8) deficiency is an autosomal recessive type of combined immunodeficiency with elevated IgE. In this report, we describe a Japanese girl of non-consanguineous family suffering from acute eosinophilic pneumonia (AEP) as a presenting feature of DOCK8 deficiency. Although AEP was self-limiting, consecutively experienced recurrent respiratory infections, severe atopic dermatitis, and vulnerability to viral infections, prompted us to evaluate the possibility of DOCK8 deficiency. Immunological assessments demonstrated decreased IgM, increased IgE, T lymphocytepenia, especially in CD4 T cells, decreased PHA blastogenesis, and decreased CD27(+) CD19(+) memory B cells. Western blotting revealed the absence of DOCK8 protein. Investigation of genomic DNA by multiplex ligation-dependent probe amplification (MLPA) revealed a heterozygous large deletion of 77 kb spanning from intron 5 to exon 22. DOCK8 cDNA sequencing revealed a nonsense mutation at position 740 (E740X). As far as we know, this is the first Japanese case of DOCK8 deficiency.
journal_name
Pediatr Pulmonoljournal_title
Pediatric pulmonologyauthors
Tsuge I,Ito K,Ohye T,Kando N,Kondo Y,Nakajima Y,Inuo C,Kurahashi H,Urisu Adoi
10.1002/ppul.22814subject
Has Abstractpub_date
2014-03-01 00:00:00pages
E52-5issue
3eissn
8755-6863issn
1099-0496journal_volume
49pub_type
杂志文章abstract::Lane-Hamilton syndrome refers to the uncommon co-occurrence of idiopathic pulmonary hemosiderosis and celiac disease (CD). Three children aged between 7 and 14 years with IPH were detected to have co-existing non-diarrheal CD. Institution of gluten-free diet in each of the three children resulted in amelioration of th...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.21357
更新日期:2011-03-01 00:00:00
abstract::The gasdermin A (GSDMA) and gasdermin B (GSDMB) genes are located at 17q21.2. The GSDM family genes have been studied in the gastrointestinal tract but recent reports suggest that GSDMB is associated with childhood asthma in several populations. We investigated the association of the GSDMA and GSDMB variants with asth...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.21424
更新日期:2011-07-01 00:00:00
abstract::Spontaneous hemopneumothorax (SHP) is a rare potentially life-threatening condition that occurs in predominantly young adolescents. The resultant massive hemorrhage leading to hypovolemic shock can be a surgical emergency. It constitutes 1-12% of all spontaneous pneumothoraces and presents with two cardinal features, ...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.22712
更新日期:2014-01-01 00:00:00
abstract::The incidence of necrotizing pneumonia and empyema complicated by bronchopleural fistula is rising. We describe the case of a 2-year-old boy who presented with empyema thoracis and necrotizing pneumonia who developed a bronchopleural fistula. At initial thoracotomy for decortication, necrotic lung was found and resect...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.22649
更新日期:2013-06-01 00:00:00
abstract::We used an in vitro model system to examine the sites of deposition of aqueous therapeutic aerosols administered through 3-mm, 6-mm, and 9-mm endotracheal tubes (commonly used in infants, children, and adults) at clinically relevant inspiratory flow rates. Aerosol was delivered to the endotracheal tube via a "T" piece...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.1950020108
更新日期:1986-01-01 00:00:00
abstract::Asynchronous or paradoxic motion between the rib cage and abdomen may be seen in infants with lung disease. We have recently shown that after bronchodilator administration, the degree of asynchrony decreases proportionately to the improvement in lung mechanics. However, whether such thoraco-abdominal asynchrony (TAA) ...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.1950110107
更新日期:1991-01-01 00:00:00
abstract::Lower respiratory tract infections (LRTI) are common in the first year of life and are mostly caused by viruses. Severity of LRTI in infants is associated with early-life environmental factors. Genetic association studies also suggest a role of heredity in susceptibility to acute bronchiolitis. We designed a case cont...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.20069
更新日期:2004-10-01 00:00:00
abstract::We tested a health education intervention program to reduce passive smoking in infancy. The aim was to develop an instrument for study of tobacco smoke exposure and childhood respiratory illness. One hundred and eighty-four women who had smoked during pregnancy were allocated by month of delivery to an intervention gr...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.1950030311
更新日期:1987-05-01 00:00:00
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journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.23116
更新日期:2015-09-01 00:00:00
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journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.23559
更新日期:2016-12-01 00:00:00
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journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.10149
更新日期:2002-07-01 00:00:00
abstract:OBJECTIVES:High incidence of genetic alterations at the microsatellite (MS) DNA level has been reported in asthmatic adults. WORKING HYPOTHESIS:The aim of this study was to investigate whether microsatellite instability (MSI) and loss of heterozygosity (LOH) were detectable phenomena in children with asthma. METHODOL...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.21097
更新日期:2009-10-01 00:00:00
abstract::Pulmonary function testing and monitoring plays an important role in the respiratory management of neonates. A noninvasive and complete bedside evaluation of the respiratory status is especially useful in critically ill neonates to assess disease severity and resolution and the response to pharmacological intervention...
journal_title:Pediatric pulmonology
pub_type: 杂志文章,评审
doi:10.1002/ppul.23245
更新日期:2015-10-01 00:00:00
abstract:BACKGROUND:Acquiring sputum cultures from infants is considered challenging. We describe their yield in infants with cystic fibrosis (CF) and other chronic suppurative lung diseases (CSLDs). METHODS:Retrospective medical record review over a 4-year period, for infants aged 0-2 years with ≥2 airway bacterial cultures a...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.25103
更新日期:2020-12-01 00:00:00
abstract::Specific airway resistance (SRaw) is conventionally determined by multiplying the plethysmographically measured values of airway resistance and functional residual capacity (FRC). An alternative single-step method, which avoids the need for airway occlusion during determination of FRC, has been described by Dab and Al...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.1950060212
更新日期:1989-01-01 00:00:00
abstract::Multiple breath inert gas washout (MBW) is gaining popularity for measurements of resting lung volume and ventilation inhomogeneity. Test reproducibility is an important determinant of the clinical applicability of diagnostic tests. The between-test reproducibility of variables derived from MBW tests in newborn infant...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.21113
更新日期:2010-01-01 00:00:00
abstract::We present two infants with congenital tracheal stenosis with complete tracheal rings. Both had associated congenital anomalies. The first case showed cardiac malformations, and the second case had agenesis of the right lung. We review the literature, in particular with reference to tracheal stenosis and pulmonary age...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.1950020414
更新日期:1986-07-01 00:00:00
abstract::We measured then compared the dynamic lung mechanics of spontaneous breaths and mechanical breaths in 9 mechanically ventilated neonates with hyaline membrane disease. All were receiving intermittent mandatory ventilation. All breathed spontaneously between ventilator breaths. Tidal volume, transpulmonary pressure, dy...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.1950080403
更新日期:1990-01-01 00:00:00
abstract::End-tidal PCO2 (PETCO2) measurements from two commercially available neonatal infrared capnometers with different sampling systems and a mass spectrometer were compared with arterial PCO2 (PaCO2) to determine whether the former could predict the latter in mechanically ventilated rabbits with and without lung injury. T...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.1950170309
更新日期:1994-03-01 00:00:00
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journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.21351
更新日期:2011-02-01 00:00:00
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journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.23757
更新日期:2017-10-01 00:00:00
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journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/1099-0496(200101)31:1<17::aid-ppul1002>3.0
更新日期:2001-01-01 00:00:00
abstract:OBJECTIVE:To define the benefits of a flexible bronchoscopy (FB) service in a Paediatric Intensive Care Unit (PICU). DESIGN:Review of the first 200 FBs undertaken in a large PICU. SETTING:Large cardiac and medical PICU in the United Kingdom, also providing extra-corporeal life support. PATIENTS:129 patients (78 male...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.20910
更新日期:2008-12-01 00:00:00
abstract::Four patients with generalized lymphangiomatosis presenting with chylothoraces are described. All four had bone involvement, two had involvement of the spleen, and one of the pericardium. The diagnosis was confirmed by typical radiology, histology, and in three patients by immunohistochemistry. Treatment was mainly pa...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.1950140211
更新日期:1992-10-01 00:00:00
abstract::The main purpose of this study was to evaluate four different forms of treatment in young infants admitted for acute wheezing (AW). Seventy-nine infants less than one year of age were randomly assigned to one of five groups. Group 1 received nebulized fenoterol plus ipratropium bromide, group 2 fenoterol, group 3 feno...
journal_title:Pediatric pulmonology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1002/ppul.1950030504
更新日期:1987-09-01 00:00:00
abstract::Spirometric testing is traditionally achievable in children of school-age and beyond. Incorporation of interactive incentives motivates preschool children to facilitate measurement of forced expiratory indices. Validated spirometric reference standards are available for Caucasian preschoolers but lacking in Asians. We...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.22773
更新日期:2013-11-01 00:00:00
abstract:BACKGROUND:Asthma is a disease with reversible bronchoconstriction; however, some patients develop fixed airflow obstruction (FAO). Previous studies have reported the incidence and risk factors of FAO in adults; however, the corresponding factors in children remain poorly understood. AIM:To evaluate the incidence and ...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.24625
更新日期:2020-03-01 00:00:00
abstract::Exercise-induced asthma (EIA) is a possible cause of poor physical performance in children. No data are available on the value of respiratory symptoms to discriminate children with bad physical fitness from children with EIA. We evaluated respiratory symptoms in school-age children during and after exercise in relatio...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.20185
更新日期:2005-04-01 00:00:00
abstract:OBJECTIVE:To determine the interpretative consequences of adopting the Global Lungs 2012 (GLI-2012) spirometric prediction equations in a pediatric hospital population. MATERIAL:Spirometric records from 2,192 white boys and 1,842 white girls, and 412 and 334 African-American boys and girls, respectively, aged 6.0-18.0...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.22876
更新日期:2014-02-01 00:00:00
abstract::Plastic bronchitis (PB) is an uncommon, potentially fatal disease, marked by endobronchial cast formation causing variable degrees of respiratory distress. Primary and secondary pulmonary lymphatic abnormalities have been identified among the underlying mechanisms of cast formation. We present a case of PB where lymph...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.22673
更新日期:2013-05-01 00:00:00