Novel SAMD9 Mutation in a Patient With Immunodeficiency, Neutropenia, Impaired Anti-CMV Response, and Severe Gastrointestinal Involvement.

Child, Preschool Cytomegalovirus Infections / genetics Humans Immunologic Deficiency Syndromes / genetics Infant Male Mutation Neutropenia / genetics Smad8 Protein / genetics
MIRAGE SAMD9 cytomegalovirus infection dysphagia gastrointestinal disorder hematopoietic stem cell transplantation immunodeficiency neutropenia

Journal

Frontiers in immunology
ISSN: 1664-3224
Titre abrégé: Front Immunol
Pays: Switzerland
ID NLM: 101560960

Informations de publication

Date de publication:
2019
Historique:
received: 23 01 2019
accepted: 30 08 2019
entrez: 18 10 2019
pubmed: 18 10 2019
medline: 11 11 2020
Statut: epublish

Résumé

Mutations in the Sterile alpha motif domain containing 9 (

Identifiants

DOI: 10.3389/fimmu.2019.02194 PMID: 31620126 PMC: PMC6759462
pubmed: 31620126
doi: 10.3389/fimmu.2019.02194
pmc: PMC6759462
doi:

Substances chimiques

SMAD9 protein, human 0
Smad8 Protein 0

Types de publication

Case Reports Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

2194

Informations de copyright

Copyright © 2019 Formankova, Kanderova, Rackova, Svaton, Brdicka, Riha, Keslova, Mejstrikova, Zaliova, Freiberger, Grombirikova, Zemanova, Vlkova, Fencl, Copova, Bronsky, Jabandziev, Sedlacek, Soukalova, Zapletal, Stary, Trka, Kalina, Skvarova Kramarzova, Hlavackova, Litzman and Fronkova.

Références

Clin Immunol. 2010 Aug;136(2):217-27
pubmed: 20452829
Cytometry B Clin Cytom. 2017 Sep;92(5):380-388
pubmed: 26647177
Folia Biol (Praha). 1988;34(1):23-34
pubmed: 2968928
PLoS One. 2014 Dec 08;9(12):e114514
pubmed: 25485546
Nat Genet. 2016 Jul;48(7):792-7
pubmed: 27182967
Nature. 2016 Aug 17;536(7616):285-91
pubmed: 27535533
Genet Test Mol Biomarkers. 2010 Aug;14(4):533-7
pubmed: 20642364
Biol Direct. 2017 May 25;12(1):13
pubmed: 28545555
Blood. 2018 Feb 15;131(7):717-732
pubmed: 29146883
J Clin Invest. 2017 May 1;127(5):1700-1713
pubmed: 28346228
Nat Genet. 2014 Mar;46(3):310-5
pubmed: 24487276
Blood Adv. 2018 Jan 23;2(2):120-125
pubmed: 29365320
Am J Hum Genet. 2016 Jun 2;98(6):1146-1158
pubmed: 27259050
Curr Protoc Hum Genet. 2013 Jan;Chapter 7:Unit7.20
pubmed: 23315928
Leukemia. 2017 Aug;31(8):1827-1830
pubmed: 28487541
Pediatr Blood Cancer. 2018 Jan;65(1):
pubmed: 28834235
Nat Protoc. 2009;4(7):1073-81
pubmed: 19561590
JCI Insight. 2018 Jul 26;3(14):
pubmed: 30046003

Auteurs

Renata Formankova (R)

Department of Paediatric Haematology and Oncology, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czechia.

Veronika Kanderova (V)

Department of Paediatric Haematology and Oncology, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czechia.

Marketa Rackova (M)

Department of Paediatric Haematology and Oncology, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czechia.

Michael Svaton (M)

Department of Paediatric Haematology and Oncology, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czechia.

Tomas Brdicka (T)

Institute of Molecular Genetics of the Czech Academy of Sciences, Prague, Czechia.

Petr Riha (P)

Department of Paediatric Haematology and Oncology, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czechia.

Petra Keslova (P)

Department of Paediatric Haematology and Oncology, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czechia.

Ester Mejstrikova (E)

Department of Paediatric Haematology and Oncology, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czechia.

Marketa Zaliova (M)

Department of Paediatric Haematology and Oncology, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czechia.

Tomas Freiberger (T)

Molecular Genetics Laboratory, Center of Cardiovascular Surgery and Transplantation, Brno, Czechia.
CEITEC, Masaryk University, Brno, Czechia.
Faculty of Medicine, Masaryk University, Brno, Czechia.

Hana Grombirikova (H)

Molecular Genetics Laboratory, Center of Cardiovascular Surgery and Transplantation, Brno, Czechia.
Faculty of Medicine, Masaryk University, Brno, Czechia.

Zuzana Zemanova (Z)

Center of Oncocytogenetics, Institute of Clinical Biochemistry and Laboratory Diagnostics, 1st Faculty of Medicine, Charles University and General University Hospital, Prague, Czechia.

Marcela Vlkova (M)

Faculty of Medicine, Masaryk University, Brno, Czechia.
Department of Clinical Immunology and Allergology, St. Anne's University Hospital Brno, Brno, Czechia.

Filip Fencl (F)

Department of Paediatrics, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czechia.

Ivana Copova (I)

Department of Paediatrics, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czechia.

Jiri Bronsky (J)

Department of Paediatrics, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czechia.

Petr Jabandziev (P)

CEITEC, Masaryk University, Brno, Czechia.
Faculty of Medicine, Masaryk University, Brno, Czechia.
Department of Paediatrics, University Hospital Brno, Brno, Czechia.

Petr Sedlacek (P)

Department of Paediatric Haematology and Oncology, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czechia.

Jana Soukalova (J)

Faculty of Medicine, Masaryk University, Brno, Czechia.
Department of Medical Genetics, University Hospital Brno, Brno, Czechia.

Ondrej Zapletal (O)

Department of Pediatric Hematology, University Hospital Brno, Brno, Czechia.

Jan Stary (J)

Department of Paediatric Haematology and Oncology, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czechia.

Jan Trka (J)

Department of Paediatric Haematology and Oncology, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czechia.

Tomas Kalina (T)

Department of Paediatric Haematology and Oncology, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czechia.

Karolina Skvarova Kramarzova (K)

Department of Paediatric Haematology and Oncology, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czechia.

Eva Hlavackova (E)

Faculty of Medicine, Masaryk University, Brno, Czechia.
Department of Clinical Immunology and Allergology, St. Anne's University Hospital Brno, Brno, Czechia.

Jiri Litzman (J)

Faculty of Medicine, Masaryk University, Brno, Czechia.
Department of Clinical Immunology and Allergology, St. Anne's University Hospital Brno, Brno, Czechia.

Eva Fronkova (E)

Department of Paediatric Haematology and Oncology, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czechia.

Articles similaires

[Redispensing of expensive oral anticancer medicines: a practical application].

Lisanne N van Merendonk, Kübra Akgöl, Bastiaan Nuijen
1.00
Humans Antineoplastic Agents Administration, Oral Drug Costs Counterfeit Drugs

Smoking Cessation and Incident Cardiovascular Disease.

Jun Hwan Cho, Seung Yong Shin, Hoseob Kim et al.
1.00
Humans Male Smoking Cessation Cardiovascular Diseases Female

Evaluation of Low-Value Services Across Major Medicare Advantage Insurers and Traditional Medicare.

Ciara Duggan, Adam L Beckman, Ishani Ganguli et al.
1.00
Humans United States Aged Cross-Sectional Studies Medicare Part C

Effectiveness of Virtual Yoga for Chronic Low Back Pain: A Randomized Clinical Trial.

Hallie Tankha, Devyn Gaskins, Amanda Shallcross et al.
1.00
Humans Yoga Low Back Pain Female Male

Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Enfant d'âge préscolaire › Novel SAMD9 Mutation in a Patient With...
questionsmedicales.fr › Infection › Maladies virales › Infections à virus à ADN › Infections à Herpesviridae › Infections à cytomégalovirus › Novel SAMD9 Mutation in a Patient With...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Novel SAMD9 Mutation in a Patient With...
questionsmedicales.fr › Maladies du système immunitaire › Déficits immunitaires › Novel SAMD9 Mutation in a Patient With...
questionsmedicales.fr › Personnes › Tranches d'âge › Nourrisson › Novel SAMD9 Mutation in a Patient With...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Novel SAMD9 Mutation in a Patient With...
questionsmedicales.fr › Hémopathies et maladies lymphatiques › Hémopathies › Troubles leucocytaires › Leucopénie › Agranulocytose › Neutropénie › Novel SAMD9 Mutation in a Patient With...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Facteurs de transcription › Protéines Smad › Protéines Smad régulées par les récepteurs › Protéine Smad-8 › Novel SAMD9 Mutation in a Patient With...