A Novel Homozygous JAK3 Mutation Leading to T-B+NK- SCID in Two Brazilian Patients.

Abstract:

:We report a novel homozygous JAK3 mutation in two female Brazilian SCID infants from two unrelated kindreds. Patient 1 was referred at 2 months of age due to a family history of immunodeficiency and the appearance of a facial rash. The infant was screened for TRECs (T-cell receptor excision circles) and KRECs (kappa-deleting recombination excision circles) for the assessment of newly formed naïve T and B cells respectively, which showed undetectable TRECs and normal numbers of KRECs. Lymphocyte immunophenotyping by flow cytometry confirmed the screening results, revealing a T-B+NK- SCID. The patient underwent successful HSCT. Patient 2 was admitted to an intensive care unit at 8 months of age with severe pneumonia, BCGosis, and oral moniliasis; she also had a positive family history for SCID but newborn screening was not performed at birth. At 10 months of age she was diagnosed as a T-B+NK- SCID and underwent successful HSCT. JAK3 sequencing revealed the same homozygous missense mutation (c.2350G>A) in both patients. This mutation affects the last nucleotide of exon 17 and it is predicted to disrupt the donor splice site. cDNA sequencing revealed skipping of exon 17 missing in both patients, confirming the predicted effect on mRNA splicing. Skipping of exon 17 leads to an out of frame deletion of 151 nucleotides, frameshift and creation of a new stop codon 60 amino acids downstream of the mutation resulting in a truncated protein which is likely nonfunctional.

journal_name

Front Pediatr

journal_title

Frontiers in pediatrics

authors

Barreiros LA,Segundo GRS,Grumach AS,Roxo-Júnior P,Torgerson TR,Ochs HD,Condino-Neto A

doi

10.3389/fped.2018.00230

subject

Has Abstract

pub_date

2018-08-20 00:00:00

pages

230

issn

2296-2360

journal_volume

6

pub_type

  • To Be Oats or Not to Be? An Update on the Ongoing Debate on Oats for Patients With Celiac Disease.

    abstract::To date, the only known effective treatment for celiac disease (CD) is a strict gluten-free diet (GFD) for life. Patients with CD often find it difficult to adhere to strict GFD. Oats, compared with wheat, barley, and rye, contain less amounts of prolamins. Inclusion of oats in a GFD might be valuable due to their nut...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章,评审

    doi:10.3389/fped.2019.00384

    authors: Spector Cohen I,Day AS,Shaoul R

    更新日期:2019-09-26 00:00:00

  • Subcutaneous and Sublingual Immunotherapy in Allergic Asthma in Children.

    abstract::This review presents up-to-date understanding of immunotherapy in the treatment of children with allergic asthma. The principal types of allergen immunotherapy (AIT) are subcutaneous immunotherapy (SCIT) and sublingual immunotherapy (SLIT). Both of them are indicated for patients with allergic rhinitis and/or asthma, ...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章,评审

    doi:10.3389/fped.2017.00082

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

    更新日期:2017-04-21 00:00:00

  • Association of Picky Eating with Growth, Nutritional Status, Development, Physical Activity, and Health in Preschool Children.

    abstract:Background:This study aimed to assess the prevalence of picky eating among preschool children and to evaluate the association between eating behavior and growth, physical activity, development, and health status. Methods:A structured questionnaire was used to conduct a cross-sectional descriptive study of 300 primary ...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章

    doi:10.3389/fped.2018.00022

    authors: Chao HC

    更新日期:2018-02-12 00:00:00

  • Stem Cells as Therapy for Necrotizing Enterocolitis: A Systematic Review and Meta-Analysis of Preclinical Studies.

    abstract::Background: Necrotizing enterocolitis (NEC) is the most common life-threatening gastrointestinal condition among very and extremely preterm infants. Stem cell therapy has shown some promising protective effects in animal models of intestinal injury, including NEC, but no systematic review has yet evaluated the preclin...

    journal_title:Frontiers in pediatrics

    pub_type:

    doi:10.3389/fped.2020.578984

    authors: Villamor-Martinez E,Hundscheid T,Kramer BW,Hooijmans CR,Villamor E

    更新日期:2020-12-09 00:00:00

  • Initial Response and Outcome of Critically Ill Children With Guillain Barre' Syndrome.

    abstract::Background: Guillain-Barre syndrome is the most common cause of acute flaccid paralysis worldwide since the eradication of poliomyelitis. Severe cases may require intensive care and mechanical ventilation. Purpose: was to study pediatric patients with severe GBS requiring intensive care unit (ICU) admission, to assess...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章

    doi:10.3389/fped.2019.00378

    authors: Bazaraa HM,Rady HI,Mohamed SA,Rabie WA,ElAnwar NH

    更新日期:2019-09-18 00:00:00

  • Effects of Nasal Continuous Positive Airway Pressure on Cerebral Hemodynamics in Preterm Infants.

    abstract::Background: To evaluate the effects of pressure levels on cerebral hemodynamics in premature infants receiving nasal continuous positive airway pressure (nCPAP) during the first 3 days of life. Methods: Forty-four preterm infants treated with nCPAP were divided into two groups: very preterm infants [gestational age 1 ...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章

    doi:10.3389/fped.2020.00487

    authors: Zhou H,Hou X,Cheng R,Zhao Y,Qiu J

    更新日期:2020-08-21 00:00:00

  • Case Report: Infantile Ischemic Stroke and Antiphospholipid Antibodies, Description of Four Cases.

    abstract::Antiphospholipid syndrome (APS) is a rare condition in childhood, but even more in the neonatal age. Most neonatal cases are considered a passively acquired autoimmune disease, due to a transplacental passage of maternal antiphospholipid antibodies (aPL) from mothers with primary or secondary APS or, more often, from ...

    journal_title:Frontiers in pediatrics

    pub_type:

    doi:10.3389/fped.2020.596386

    authors: Giani T,Mauro A,Ferrara G,Cimaz R

    更新日期:2020-11-24 00:00:00

  • Clinical Presentation and Outcomes among Children with Sepsis Presenting to a Public Tertiary Hospital in Tanzania.

    abstract:Background:Pediatric sepsis causes significant global morbidity and mortality and low- and middle-income countries (LMICs) bear the bulk of the burden. International sepsis guidelines may not be relevant in LMICs, especially in sub-Saharan Africa (SSA), due to resource constraints and population differences. There is a...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章

    doi:10.3389/fped.2017.00278

    authors: Kortz TB,Sawe HR,Murray B,Enanoria W,Matthay MA,Reynolds T

    更新日期:2017-12-22 00:00:00

  • Parent Education and Future Transition to Cigarette Smoking: Latinos' Diminished Returns.

    abstract::Background: High parent education is protective against youth health risk behaviors such as tobacco use. According to the Minorities' Diminished Returns theory, however, higher parent education seems to exert less protection for the ethnic minority relative to the majority groups. Objectives: To explore ethnic differe...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章

    doi:10.3389/fped.2020.00457

    authors: Assari S,Boyce S,Caldwell CH,Bazargan M

    更新日期:2020-08-19 00:00:00

  • Is Autosomal Dominant Polycystic Kidney Disease Becoming a Pediatric Disorder?

    abstract::Autosomal dominant polycystic kidney disease (ADPKD) affects 1 in 400 to 1,000 live births, making it the most common monogenic cause of renal failure. Although no definite cure is available yet, it is important to affect disease progression by influencing modifiable factors such as hypertension and proteinuria. Besid...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章,评审

    doi:10.3389/fped.2017.00272

    authors: De Rechter S,Breysem L,Mekahli D

    更新日期:2017-12-20 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

  • Vasculopathy, Immunodeficiency, and Bone Marrow Failure: The Intriguing Syndrome Caused by Deficiency of Adenosine Deaminase 2.

    abstract::Deficiency of adenosine deaminase 2 (DADA2) is a monogenic form of systemic vasculopathy that often presents during early childhood. Linked to biallelic mutations in ADA2 (previously CECR1), DADA2 was initially described as a syndrome of recurrent fever, livedo racemosa, early-onset strokes, and peripheral vasculopath...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章,评审

    doi:10.3389/fped.2018.00282

    authors: Lee PY

    更新日期:2018-10-18 00:00:00

  • Cancer Risk in Pediatric-Onset Inflammatory Bowel Disease.

    abstract::Inflammatory bowel disease (IBD) is a chronic, immune-mediated, non-curable disease. The incidence of IBD appears to have risen over the last few decades especially in the pediatric age group. IBD usually presents with gastrointestinal symptoms, including abdominal pain, diarrhea, and bleeding per rectum but can also ...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章,评审

    doi:10.3389/fped.2020.00400

    authors: El-Matary W,Bernstein CN

    更新日期:2020-07-17 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

  • Trio-Based Whole-Exome Sequencing Identifies a De novo EFNB1 Mutation as a Genetic Cause in Female Infant With Brain Anomaly and Developmental Delay.

    abstract::Background: Craniofrontonasal syndrome is a rare, X-linked disorder in which heterozygous females ironically reported the majority of patients and is caused by in the EFNB1 gene located at chromosome Xq13.1. Unlike previous reports, we present a female infant with a de novo EFNB1 missense mutation that was demonstrate...

    journal_title:Frontiers in pediatrics

    pub_type:

    doi:10.3389/fped.2020.00461

    authors: Han JY,Kim HJ,Jang JH,Lee IG,Park J

    更新日期:2020-09-01 00:00:00

  • The Understanding of Peak Oxygen Uptake in Children Aged 8-16.

    abstract::Objective: To examine the understanding of the concept peak oxygen uptake (peak VO2) among children and adolescents at different ages from a developmental perspective. Methods: A total of 549 children and adolescents aged 8 to 16 were recruited and instructed to fill in a 20-item Peak VO2Understanding Inventory develo...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章

    doi:10.3389/fped.2020.599571

    authors: Wong SWL,Yu CCW,Li AM

    更新日期:2021-01-14 00:00:00

  • Salvage Strategy for Long-Term Central Venous Catheter-Associated Staphylococcus aureus Infections in Children.

    abstract::Introduction: Current international guidelines strongly recommend catheter removal in case of S. aureus central line-associated bloodstream infection (CLASBI), but a catheter salvage strategy may be considered in children given age-related specificities. No data is available regarding the outcome of this strategy in c...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章

    doi:10.3389/fped.2018.00427

    authors: Alby-Laurent F,Lambe C,Ferroni A,Salvi N,Lebeaux D,Le Gouëz M,Castelle M,Moulin F,Nassif X,Lortholary O,Chalumeau M,Toubiana J

    更新日期:2019-01-25 00:00:00

  • An emerging molecular understanding and novel targeted treatment approaches in pediatric kidney diseases.

    abstract::The evaluation and treatment of the heterogeneous group of kidney diseases poses a challenging field in pediatrics. Many of the pediatric disorders resulting in severe renal affection are exceedingly rare and therapeutic approaches have remained symptomatic for most of these disease entities. The insights obtained fro...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章,评审

    doi:10.3389/fped.2014.00068

    authors: Liebau MC

    更新日期:2014-07-01 00:00:00

  • Serum Ferritin Predicts Neither Organ Dysfunction Nor Mortality in Pediatric Sepsis Due to Tropical Infections.

    abstract::Objective: To evaluate serial ferritin levels measured in the initial 72 h of admission as a biomarker for new and progressive multi organ dysfunction syndrome (NPMODS) and mortality (unfavorable outcomes) in critically ill children with sepsis due to tropical infections. Material and Methods: In this prospective obse...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章

    doi:10.3389/fped.2020.607673

    authors: Williams V,Menon N,Bhatia P,Biswal M,Sreedharanunni S,Rawat A,Jayashree M,Nallasamy K

    更新日期:2020-12-03 00:00:00

  • CSF Surfactant Protein Changes in Preterm Infants After Intraventricular Hemorrhage.

    abstract::Introduction: Surfactant proteins (SP) have been shown to be inherent proteins of the human CNS and are altered during acute and chronic disturbances of CSF circulation. Aim of the study was to examine the changes of surfactant protein concentrations in CSF of preterm babies suffering from intraventricular hemorrhage....

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章

    doi:10.3389/fped.2020.572851

    authors: Krause M,Härtig W,Mahr CV,Richter C,Schob J,Puchta J,Hoffmann KT,Nestler U,Thome U,Knüpfer M,Gebauer C,Schob S

    更新日期:2020-09-25 00:00:00

  • Quantitative Assessment of Parenchymal Involvement Using 3D Lung Model in Adolescent With Covid-19 Interstitial Pneumonia.

    abstract::Background: Amount of parenchymal involvement in patients with interstitial pneumonia Covid-19 related, seems to be associated with a worse prognosis. Nowadays 3D reconstruction imaging is expanding its role in clinical medical practice. We aimed to use 3D lung reconstruction of a young lady affected by Sars-CoV2 infe...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章

    doi:10.3389/fped.2020.00453

    authors: Borro L,Ciliberti P,Santangelo TP,Magistrelli A,Campana A,Carducci FC,Caterina M,Tomà P,Secinaro A

    更新日期:2020-08-05 00:00:00

  • Prevalence of Respiratory Polyomaviruses Among Pediatric Patients With Respiratory Symptoms in Singapore.

    abstract::Background: Although WU polyomavirus (WU) and KI polyomavirus (KI) have been demonstrated to infect the human respiratory tract, it remains unclear if WU or KI cause human disease. We sought to further investigate the relationship between WU and KI infection and respiratory disease in a pediatric population with respi...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章

    doi:10.3389/fped.2018.00228

    authors: Hansen-Estruch C,Coleman KK,Thoon KC,Low JG,Anderson BD,Gray GC

    更新日期:2018-08-17 00:00:00

  • A Novel STAT3 Mutation in a Qatari Patient With Hyper-IgE Syndrome.

    abstract::Autosomal dominant hyper-IgE syndrome caused by mutations in the transcription factor STAT3 (AD-HIES) is characterized by a collection of immunologic and non-immune features including eczema, recurrent infections, elevated IgE levels, and connective tissue anomalies. We report the case of a Qatari child with a history...

    journal_title:Frontiers in pediatrics

    pub_type:

    doi:10.3389/fped.2019.00130

    authors: Chaimowitz NS,Branch J,Reyes A,Vargas-Hernández A,Orange JS,Forbes LR,Ehlayel M,Purayil SC,Al-Nesf MA,Vogel TP

    更新日期:2019-04-24 00:00:00

  • Follow-Up Investigation of 41 Children After Metallic Airway Stent Implantation: An 8-Year Experience.

    abstract::Objective: To present 8-year follow-up outcomes, treatment of complications, and prognosis in children with congenital tracheal stenosis after metallic airway stent implantation. Methods: Retrospective analysis was performed on the clinical records of children who had airway stents placed between May 20, 2011 and May ...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章

    doi:10.3389/fped.2020.579209

    authors: Wang M,Zhu B,Xu X

    更新日期:2020-10-26 00:00:00

  • Cardiac and Inflammatory Necrotizing Enterocolitis in Newborns Are Not the Same Entity.

    abstract::Background: Necrotizing enterocolitis (NEC) is an often-fatal neonatal disease involving intestinal hyperinflammation leading to necrosis. Despite ongoing research, (1) conflicting results and (2) comorbidities of NEC patients make early NEC detection challenging and may complicate therapy development. Most research s...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章

    doi:10.3389/fped.2020.593926

    authors: Klinke M,Wiskemann H,Bay B,Schäfer HJ,Pagerols Raluy L,Reinshagen K,Vincent D,Boettcher M

    更新日期:2021-01-06 00:00:00

  • Maternal Feeding Practices among Children with Feeding Difficulties-Cross-sectional Study in a Brazilian Reference Center.

    abstract:Background:Given the positive influence of responsive caregiving on dietary habits in childhood, to raise awareness of caregivers regarding their behavior is crucial in multidisciplinary care on infant feeding. Objectives:To identify the most common responsive and non-responsive feeding practices in mothers of childre...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章

    doi:10.3389/fped.2017.00286

    authors: Machado RHV,Tosatti AM,Malzyner G,Maximino P,Ramos CC,Bozzini AB,Ribeiro L,Fisberg M

    更新日期:2018-01-04 00:00:00

  • Pulmonary Alveolar Proteinosis Due to Pneumocystis carinii in Type 1 Hyper-IgM Syndrome: A Case Report.

    abstract::Background: Pulmonary alveolar proteinosis (PAP) is a rare diffuse lung disease. Reports of rare cases of PAP due to Pneumocystis jirovecii (P. jirovecii) exist in infants with immunodeficiency diseases, but no cases have been reported to date in pediatric patients with type 1 hyper-IgM syndrome (HIGM1). Case Presenta...

    journal_title:Frontiers in pediatrics

    pub_type:

    doi:10.3389/fped.2020.00264

    authors: Zhang FZ,Yuan JX,Qin L,Tang LF

    更新日期:2020-06-11 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

  • Systemic Epstein-Barr Virus-Positive T/NK Lymphoproliferative Diseases With SH2D1A/XIAP Hypomorphic Gene Variants.

    abstract::X-linked lymphoproliferative disease (XLP) is one of the X-linked primary immunodeficiency diseases (PIDs) with defective immune response to Epstein-Barr virus (EBV) infection. Chronic active EBV infection (CAEBV) and EBV-hemophagocytic lymphohistiocytosis (HLH) are recognized as systemic EBV-positive T-cell and natur...

    journal_title:Frontiers in pediatrics

    pub_type:

    doi:10.3389/fped.2019.00183

    authors: Ishimura M,Eguchi K,Shiraishi A,Sonoda M,Azuma Y,Yamamoto H,Imadome KI,Ohga S

    更新日期:2019-05-21 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