DOCK 8 Deficiency, EBV+ Lymphomatoid Granulomatosis, and Intrafamilial Variation in Presentation.

Abstract:

:Dedicator of cytokinesis 8 (DOCK8) deficiency is an autosomal recessive, combined immunodeficiency within the spectrum of hyper-IgE syndromes. Epstein-Barr virus-positive lymphomatoid granulomatosis (LYG) (EBV + LYG) is a rare diagnosis and a previously unreported presentation of DOCK8 deficiency. A 10-year-old girl was initially evaluated for mild eczema and recurrent sinopulmonary infections. She had normal immunoglobulins with elevated IgE, poor polysaccharide response with low switched memory B cells, low CD4 count, and normal mitogen and antigen responses. Despite clinical improvement following immunoglobulin replacement, a prolonged cough prompted a CT scan, which showed nodules. Biopsy identified a Grade 2 EBV + LYG. Due to an inadequate response with chemotherapy, further workup for primary immunodeficiency was performed. With her symptoms of eczema and IgE elevation, along with her brother's history of recurrent sinopulmonary infections and warts, targeted sequencing of DOCK8 was performed revealing compound heterozygous mutations for the two siblings. Both patients were successfully transplanted with resolution of the LYG and warts, respectively. This is the first reported case of LYG in DOCK8 deficiency. The EBV-driven lymphoproliferative disease along with the infection history in the brother led to the diagnosis of DOCK8 deficiency and curative hematopoietic stem cell transplants.

journal_name

Front Pediatr

journal_title

Frontiers in pediatrics

authors

Dimitriades VR,Devlin V,Pittaluga S,Su HC,Holland SM,Wilson W,Dunleavy K,Shah NN,Freeman AF

doi

10.3389/fped.2017.00038

subject

Has Abstract

pub_date

2017-02-28 00:00:00

pages

38

issn

2296-2360

journal_volume

5

pub_type

  • Surgical Management of Neurogenic Sphincter Incompetence in Children.

    abstract::We report on the results of a literature review regarding the indications and results of operations to increase bladder outlet resistance to achieve dryness in children with neurogenic sphincter incompetence (NSBD). The relative advantages and disadvantages of injection of bulking agents, periurethral slings, bladder ...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章,评审

    doi:10.3389/fped.2019.00097

    authors: Ludwikowski BM,Bieda JC,Lingnau A,González R

    更新日期:2019-03-26 00:00:00

  • Assessment of Seroconversion to SARS-CoV-2 in a Cohort of Pediatric Kidney Transplant Recipients.

    abstract::Background: The occurrence of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and the associated coronavirus disease 2019 (COVID-19) have profoundly affected adult kidney disease patients. In contrast, pediatric solid organ transplant recipients, including pediatric kidney transplant (KT) recipients, ...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章

    doi:10.3389/fped.2020.601327

    authors: Nailescu C,Khalid M,Wilson AC,Amanat F,Arregui S,Canas J,Hooks J,Krammer F,Schwaderer AL,Hains DS

    更新日期:2020-10-30 00:00:00

  • A child with acute encephalopathy associated with quadruple viral infection.

    abstract:UNLABELLED:Pediatric acute encephalopathy (AE) was sometimes attributed to virus infection. However, viral infection does not always result in AE. The risk factors for developing infantile AE upon virus infection remain to be determined. Here, we report an infant with AE co-infected with human herpesvirus-6 (HHV-6) and...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章

    doi:10.3389/fped.2015.00026

    authors: Nakata K,Kashiwagi M,Masuda M,Shigehara S,Oba C,Murata S,Kase T,Komano JA

    更新日期:2015-04-02 00:00:00

  • Vitamin D-Resistant Rickets and Cinacalcet-One More Favorable Experience.

    abstract::Hereditary vitamin D-resistant rickets (HVDRR) is an autosomal recessive disorder characterized by early onset of severe rickets, with a complete triad of clinical, biochemical and skeletal abnormalities. Homozygous or heterozygous mutations in the vitamin D receptor (VDR) gene leading to complete or partial target or...

    journal_title:Frontiers in pediatrics

    pub_type:

    doi:10.3389/fped.2018.00376

    authors: Nicolescu RC,Lombet J,Cavalier E

    更新日期:2018-11-28 00:00:00

  • Clinical and Molecular Analysis of Four Patients With 11β-Hydroxylase Deficiency.

    abstract::Objective: 11β-hydroxylase deficiency (11βOHD) is a rare autosomal recessive disorder caused by mutations in the CYP11B1 gene. It is characterized by virilization, hypertension, and significant final height impairment. In this study, we aim to investigate the clinical and molecular characteristics of four unrelated Ch...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章

    doi:10.3389/fped.2020.00410

    authors: Zhou Q,Wang D,Wang C,Zheng B,Liu Q,Zhu Z,Jia Z,Gu W

    更新日期:2020-07-24 00:00:00

  • DNA Methylation Profile in Human Cord Blood Mononuclear Leukocytes From Term Neonates: Effects of Histological Chorioamnionitis.

    abstract::Background: Histological chorioamnionitis (HCA) is an infection/inflammation of fetal membranes and complicates 5.2-28.5% of all live births. Exposure to HCA can have long-term consequences including abnormal neurodevelopment and an increased risk for allergic disorders and asthma later in childhood. HCA may incite ep...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章

    doi:10.3389/fped.2020.00437

    authors: Fong G,Gayen Nee' Betal S,Murthy S,Favara M,Chan JSY,Addya S,Shaffer TH,Greenspan J,Bhandari V,Li D,Rahman I,Aghai ZH

    更新日期:2020-08-04 00:00:00

  • Short- and Long-Term Renal Outcome of Hemolytic-Uremic Syndrome in Childhood.

    abstract::Introduction: Hemolytic-uremic syndrome (HUS) is a common cause for intrarenal acute kidney injury in childhood. More than 90% of HUS cases are associated with an infection by Shigatoxin-producing Escherichia coli (STEC) whereas the reminder comprises a heterogeneous group (here classified as Non-STEC-HUS). Renal impa...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章

    doi:10.3389/fped.2018.00220

    authors: Vaterodt L,Holle J,Hüseman D,Müller D,Thumfart J

    更新日期:2018-08-07 00:00:00

  • Brain Abscess as Severe Presentation of Specific Granule Deficiency.

    abstract::Severe invasive infections such as brain abscess in a child should prompt an immune evaluation. Specific granule deficiency (SGD) is a rare morphologic neutrophil granular defect characterized by reduced granules within neutrophils, absence of granule proteins, and bilobed nuclei. Patients are susceptible to invasive ...

    journal_title:Frontiers in pediatrics

    pub_type:

    doi:10.3389/fped.2020.00117

    authors: Leszcynska M,Patel B,Morrow M,Chamizo W,Tuite G,Berman DM,Potthast K,Hsu AP,Holland SM,Leiding JW

    更新日期:2020-04-22 00:00:00

  • Respiratory Muscle Strength and Exercise Performance in Cystic Fibrosis-A Cross Sectional Study.

    abstract::Introduction: Decreased respiratory muscle strength in patients with cystic fibrosis (CF) may cause progressive exercise intolerance during cardiopulmonary exercise testing (CPET), and may contribute to the development of chronic respiratory insufficiency. The aim of this study is to evaluate exercise tolerance during...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章

    doi:10.3389/fped.2018.00244

    authors: Sovtic A,Minic P,Markovic-Sovtic G,Trajkovic GZ

    更新日期:2018-09-04 00:00:00

  • Ceftolozane/Tazobactam for Treating Children With Exacerbations of Cystic Fibrosis Due to Pseudomonas aeruginosa: A Review of Available Data.

    abstract::Ceftolozane-tazobactam is a novel fifth-generation cephalosporin/β-lactamase inhibitor combination recently approved for treatment of both complicated intra-abdominal and urinary tract infections in adults. Considering its potent bactericidal activity against Pseudomonas aeruginosa, it might represent an important opt...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章,评审

    doi:10.3389/fped.2020.00173

    authors: Garazzino S,Altieri E,Silvestro E,Pruccoli G,Scolfaro C,Bignamini E

    更新日期:2020-05-05 00:00:00

  • New Methods for Imaging Evaluation of Chest Wall Deformities.

    abstract:Aim:The purpose of this study is to describe the development of an external 3-dimensional (3D) scanner as a noninvasive method for imaging chest wall deformities. It allows objective assessment, reconstruction of the area of interest, and evaluation of the severity of the deformity by using external indexes. External ...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章

    doi:10.3389/fped.2017.00257

    authors: Lain A,Garcia L,Gine C,Tiffet O,Lopez M

    更新日期:2017-12-04 00:00:00

  • Robotic Assisted Surgery in Pediatric Urology: Current Status and Future Directions.

    abstract::The evolution of robotic surgical technology and its application in Pediatric Urology have been rapid and essentially successful. Further development remains limited in three key areas: procedural inefficiencies, cost and integration of surgical and clinical information. By addressing these challenges through technolo...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章,评审

    doi:10.3389/fped.2019.00090

    authors: Chen CJ,Peters CA

    更新日期:2019-03-26 00:00:00

  • Edible Oils Attenuate Button Battery-Induced Injury in Porcine Esophageal Segments.

    abstract::Objective: The objective of the study is to test whether the use of edible oil might be an early treatment strategy for reducing button battery-induced esophageal injury. Methods: A button battery was inserted into esophageal segments collected from pigs. The esophageal segments were randomly allotted to one of the fo...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章

    doi:10.3389/fped.2020.00097

    authors: Jia W,Zhang B,Xu G,Xie J,Wei H,Shan N,Wang Q,Yin W,Zhao W

    更新日期:2020-03-13 00:00:00

  • Identification of Mycobacterium tuberculosis Infection in Infants and Children With Partial Discrimination Between Active Disease and Asymptomatic Infection.

    abstract::Background: Improved diagnostic tests are needed for the early identification of Mycobacterium tuberculosis-infected young children exposed to an active TB (aTB) index case. We aimed to compare the diagnostic accuracy of new blood-based tests to that of the tuberculin skin test (TST) for the identification of all infe...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章

    doi:10.3389/fped.2019.00311

    authors: Dreesman A,Dirix V,Smits K,Corbière V,Van Praet A,Debulpaep S,De Schutter I,Felderhof MK,Malfroot A,Singh M,Locht C,Mouchet F,Mascart F

    更新日期:2019-07-25 00:00:00

  • Impact of Brain Injury on Processing of Emotional Prosodies in Neonates.

    abstract::Being able to appropriately process different emotional prosodies is an important cognitive ability normally present at birth. In this study, we used event-related potential (ERP) to assess whether brain injury impacts the ability to process different emotional prosodies (happy, fear, and neutral) in neonates; whether...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章

    doi:10.3389/fped.2019.00192

    authors: Sun G,Xie H,Liu Y,Chen Y,Hou X,Zhang D

    更新日期:2019-05-09 00:00:00

  • The Burden of Pediatric Asthma.

    abstract::Asthma is the most common chronic disease in children, imposing a consistent burden on health system. In recent years, prevalence of asthma symptoms became globally increased in children and adolescents, particularly in Low-Middle Income Countries (LMICs). Host (genetics, atopy) and environmental factors (microbial ex...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章,评审

    doi:10.3389/fped.2018.00186

    authors: Ferrante G,La Grutta S

    更新日期:2018-06-22 00:00:00

  • Aetiological Significance of Infectious Stimuli in Kawasaki Disease.

    abstract::Kawasaki disease (KD) is a pediatric vasculitis syndrome that is often involves coronary artery lesions (e. g., coronary artery aneurysms). Although its causal factors and entire pathogenesis remain elusive, the available evidence indicates that the pathogenesis of KD is closely associated with dysregulation of immune...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章,评审

    doi:10.3389/fped.2019.00244

    authors: Nakamura A,Ikeda K,Hamaoka K

    更新日期:2019-06-28 00:00:00

  • The Role of Protein and Free Amino Acids on Intake, Metabolism, and Gut Microbiome: A Comparison Between Breast-Fed and Formula-Fed Rhesus Monkey Infants.

    abstract::Background: Compared to breast-fed (BF), formula-fed (FF) infants exhibit more rapid weight gain, a different fecal microbial profile, as well as elevated serum insulin, insulin growth factor 1 (IGF-1), and branched chain amino acids (BCAAs). Since infant formula contains more protein and lower free amino acids than b...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章

    doi:10.3389/fped.2019.00563

    authors: He X,Sotelo-Orozco J,Rudolph C,Lönnerdal B,Slupsky CM

    更新日期:2020-01-24 00:00:00

  • Emerging Therapies for Childhood Polycystic Kidney Disease.

    abstract::Cystic kidney diseases comprise a varied collection of hereditary disorders, where renal cysts comprise a major element of their pleiotropic phenotype. In pediatric patients, the term polycystic kidney disease (PKD) commonly refers to two specific hereditary diseases, autosomal recessive polycystic kidney disease (ARP...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章,评审

    doi:10.3389/fped.2017.00077

    authors: Sweeney WE Jr,Avner ED

    更新日期:2017-04-19 00:00:00

  • Advances in the Study of Chronic Active Epstein-Barr Virus Infection: Clinical Features Under the 2016 WHO Classification and Mechanisms of Development.

    abstract::Chronic active Epstein-Barr virus infection (CAEBV) is one of the Epstein-Barr virus (EBV)-positive T- or NK-lymphoproliferative diseases. It is considered rare and geographically limited to Japan and East Asia. However, CAEBV is drawing international attention, and the number of case reported worldwide is increasing,...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章,评审

    doi:10.3389/fped.2019.00014

    authors: Arai A

    更新日期:2019-02-05 00:00:00

  • Henoch-Schönlein Purpura Presenting in Association With Neuroblastoma: A Case Report.

    abstract::Henoch-Schönlein purpura (HSP) is a common systemic vasculitis affecting children. It is managed in the outpatient setting and rarely associated with malignancy. We present a case of neuroblastoma in a 7-year-old boy diagnosed after suspected HSP. Our case highlights the importance of maintaining a broad differential ...

    journal_title:Frontiers in pediatrics

    pub_type:

    doi:10.3389/fped.2020.00077

    authors: Alfath Z,Ferdjallah A,Greengard E,Askari SK,Sadak KT,Correll CK

    更新日期:2020-02-28 00:00:00

  • Estimation of Gestational Age via Image Analysis of Anterior Lens Capsule Vascularity in Preterm Infants: A Pilot Study.

    abstract::Introduction: Anterior lens capsule vascularity (ALCV) is resorbed in the developing fetus from 27 to 35 weeks gestation. In this pilot study, we evaluated the feasibility and validity of combining smartphone ophthalmoscope videos of ALCV and image analysis for gestational age estimation. Methods: ALCV videos were cap...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章

    doi:10.3389/fped.2019.00043

    authors: Patel M,Mukherjee D,Farsiu S,Munoz B,Blood AB,Wilson CG,Griffin JB

    更新日期:2019-02-20 00:00:00

  • Corrigendum: Subcutaneous and Sublingual Immunotherapy in Allergic Asthma in Children.

    abstract::[This corrects the article on p. 82 in vol. 5, PMID: 28484690.]. ...

    journal_title:Frontiers in pediatrics

    pub_type: 已发布勘误

    doi:10.3389/fped.2017.00187

    authors: Tsabouri S,Mavroudi A,Feketea G,Guibas GV

    更新日期:2017-09-11 00:00:00

  • Immune Thrombocytopenia in Two Unrelated Fanconi Anemia Patients - A Mere Coincidence?

    abstract::Thrombocytopenia and pancytopenia, occurring in patients with Fanconi anemia (FA), are interpreted either as progression to bone marrow failure or as developing myelodysplasia. On the other hand, immune thrombocytopenia (ITP) represents an acquired and often self-limiting benign hematologic disorder, associated with p...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章

    doi:10.3389/fped.2015.00050

    authors: Karastaneva A,Lanz S,Wawer A,Behrends U,Schindler D,Dietrich R,Burdach S,Urban C,Benesch M,Seidel MG

    更新日期:2015-06-08 00:00:00

  • Effects of Nasal Continuous Positive Airway Pressure and High-Flow Nasal Cannula on Sucking, Swallowing, and Breathing during Bottle-Feeding in Lambs.

    abstract::The use of prolonged respiratory support under the form of high-flow nasal cannula (HFNC) or nasal continuous positive airway pressure (nCPAP) is frequent in newborn infants. Introduction of oral feeding under such nasal respiratory support is, however, highly controversial among neonatologists, due to the fear that i...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章

    doi:10.3389/fped.2017.00296

    authors: Samson N,Nadeau C,Vincent L,Cantin D,Praud JP

    更新日期:2018-01-17 00:00:00

  • Pediatric Critical Care Medicine Training in India: Past, Present, and Future.

    abstract::Pediatric critical care services in India have grown with leaps and bounds. There has been a growing need of physicians specially trained in pediatric critical care medicine (PCCM) in India. Physicians returning to India after their formal training in PCCM abroad have partly supported this growing need. Development of...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章,评审

    doi:10.3389/fped.2018.00034

    authors: Bhalala U,Khilnani P

    更新日期:2018-02-26 00:00:00

  • Failing to Make Ends Meet: The Broad Clinical Spectrum of DNA Ligase IV Deficiency. Case Series and Review of the Literature.

    abstract::DNA repair defects are inborn errors of immunity that result in increased apoptosis and oncogenesis. DNA Ligase 4-deficient patients suffer from a wide range of clinical manifestations since early in life, including: microcephaly, dysmorphic facial features, growth failure, developmental delay, mental retardation; hip...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章

    doi:10.3389/fped.2018.00426

    authors: Staines Boone AT,Chinn IK,Alaez-Versón C,Yamazaki-Nakashimada MA,Carrillo-Sánchez K,García-Cruz MLH,Poli MC,González Serrano ME,Medina Torres EA,Muzquiz Zermeño D,Forbes LR,Espinosa-Rosales FJ,Espinosa-Padilla SE,Orange JS,Lu

    更新日期:2019-01-21 00:00:00

  • Early Identification of Childhood Asthma: The Role of Informatics in an Era of Electronic Health Records.

    abstract::Emerging literature suggests that delayed identification of childhood asthma results in an increased risk of long-term and various morbidities compared to those with timely diagnosis and intervention, and yet this risk is still overlooked. Even when children and adolescents have a history of recurrent asthma-like symp...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章,评审

    doi:10.3389/fped.2019.00113

    authors: Seol HY,Sohn S,Liu H,Wi CI,Ryu E,Park MA,Juhn YJ

    更新日期:2019-04-02 00:00:00

  • Interest of URS-L in the Treatment of Ureterolithiasis in Preschool Children.

    abstract::Urolithiasis can affect all children even preschool ones. Diagnostic difficulties in the youngest children are due to the problems in locating pain and determining its character and severity. In keeping with the ALARA (As Low As Reasonably Achievable) protocol, the number of imaging tests possible to perform is very l...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章

    doi:10.3389/fped.2019.00324

    authors: Halinski A,Halinski A,Zaniew M,Kudliński B,Soltysiak J,Sobolewski B,Steyaert H

    更新日期:2019-09-06 00:00:00

  • Targeting FLT3 Signaling in Childhood Acute Myeloid Leukemia.

    abstract::Acute myeloid leukemia (AML) is the second most common leukemia of childhood and is associated with high rates of chemotherapy resistance and relapse. Clinical outcomes for children with AML treated with maximally intensive multi-agent chemotherapy lag far behind those of children with the more common acute lymphoblas...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章,评审

    doi:10.3389/fped.2017.00248

    authors: Sexauer AN,Tasian SK

    更新日期:2017-11-20 00:00:00