Chronic Intestinal Pseudo-Obstruction and Lymphoproliferative Syndrome as a Novel Phenotype Associated With Tetratricopeptide Repeat Domain 7A Deficiency.

Animals Cells, Cultured Chronic Disease Consanguinity Female Humans Infant Intestinal Pseudo-Obstruction / etiology Lymphoproliferative Disorders / etiology Male Mice Protein Deficiency Proteins / genetics
fsn mouse intestinal pseudo-obstruction lymphoproliferative syndrome mutant's cell phenotype tetratricopeptide repeat domain 7A

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: 13 09 2019
accepted: 21 10 2019
entrez: 3 12 2019
pubmed: 4 12 2019
medline: 29 9 2020
Statut: epublish

Résumé

Mutations in the tetratricopeptide repeat domain 7A (TTC7A) gene cause very early onset inflammatory bowel diseases (VOIBD) or multiple intestinal atresia associated with immune deficiency of various severities, ranging from combined immune deficiency to mild lymphopenia. In this manuscript, we report the clinical, biological and molecular features of a patient born from consanguineous parents, presenting with recurrent lymphoproliferative syndrome and pan-hypergammaglobulinemia associated with chronic intestinal pseudo obstruction (CIPO). Genetic screening revealed the novel c.974G>A (p.R325Q) mutation in homozygosity in the

Identifiants

DOI: 10.3389/fimmu.2019.02592 PMID: 31787977 PMC: PMC6853864
pubmed: 31787977
doi: 10.3389/fimmu.2019.02592
pmc: PMC6853864
doi:

Substances chimiques

Proteins 0
TTC7A protein, human 0

Types de publication

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

Langues

eng

Sous-ensembles de citation

IM

Pagination

2592

Informations de copyright

Copyright © 2019 El-Daher, Lemale, Bruneau, Leveau, Guerin, Lambert, Diana, Neven, Sepulveda, Coulomb-L'Hermine, Molina, Picard, Fischer and de Saint Basile.

Références

J Allergy Clin Immunol. 2014 Dec;134(6):1354-1364.e6
pubmed: 25174867
J Allergy Clin Immunol. 2013 Sep;132(3):656-664.e17
pubmed: 23830146
Front Immunol. 2019 Feb 14;10:130
pubmed: 30837984
Cell Discov. 2018 Nov 13;4:61
pubmed: 30455981
Front Immunol. 2018 Jan 26;8:1965
pubmed: 29434582
Gastroenterology. 2014 Apr;146(4):1028-39
pubmed: 24417819
Hum Mutat. 2018 Jun;39(6):774-789
pubmed: 29527791
J Clin Invest. 2017 Dec 1;127(12):4415-4420
pubmed: 29106381
J Clin Invest. 2014 Jan;124(1):328-37
pubmed: 24292712
Autoimmunity. 2004 May;37(3):227-35
pubmed: 15497457
Proc Natl Acad Sci U S A. 2017 Dec 26;114(52):13720-13725
pubmed: 29229838

Auteurs

Marie-Thérèse El-Daher (MT)

Laboratory of Normal and Pathological Homeostasis of the Immune System, INSERM UMR 1163, Paris, France.
Imagine Institute, Université de Paris, Paris, France.

Julie Lemale (J)

Pediatric Nutrition and Gastroenterology Department, Trousseau Hospital, Assistance Publique-Hôpitaux de Paris, Sorbonne Université, Paris, France.

Julie Bruneau (J)

Imagine Institute, Université de Paris, Paris, France.
Department of Pathology, Hôpital Necker-Enfants Malades, Assistance Publique des Hôpitaux de Paris, Paris, France.

Claire Leveau (C)

Laboratory of Normal and Pathological Homeostasis of the Immune System, INSERM UMR 1163, Paris, France.
Imagine Institute, Université de Paris, Paris, France.

Frédéric Guerin (F)

Laboratory of Normal and Pathological Homeostasis of the Immune System, INSERM UMR 1163, Paris, France.
Imagine Institute, Université de Paris, Paris, France.

Nathalie Lambert (N)

Center for the Study of Primary Immunodeficiencies, Necker Enfants Malades Hospital, Assistance Publique des Hôpitaux de Paris, Paris, France.

Jean-Sébastien Diana (JS)

Pediatric Hematology Department, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; INSERM UMR 1163, Paris, France.

Bénédicte Neven (B)

Pediatric Hematology Department, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; INSERM UMR 1163, Paris, France.

Fernando E Sepulveda (FE)

Laboratory of Normal and Pathological Homeostasis of the Immune System, INSERM UMR 1163, Paris, France.
Imagine Institute, Université de Paris, Paris, France.
Centre Nationale de la Recherche Scientifique - CNRS, Villejuif, France.

Aurore Coulomb-L'Hermine (A)

Department of Pathology, Hôpital A Trousseau, Assistance-Publique des Hôpitaux de Paris, Sorbonne Université, Paris, France.

Thierry Molina (T)

Imagine Institute, Université de Paris, Paris, France.
Department of Pathology, Hôpital Necker-Enfants Malades, Assistance Publique des Hôpitaux de Paris, Paris, France.

Capucine Picard (C)

Imagine Institute, Université de Paris, Paris, France.
Center for the Study of Primary Immunodeficiencies, Necker Enfants Malades Hospital, Assistance Publique des Hôpitaux de Paris, Paris, France.
Laboratory of Lymphocyte Activation and Susceptibility to EBV Infection, INSERM UMR 1163, Paris, France.

Alain Fischer (A)

Imagine Institute, Université de Paris, Paris, France.
Pediatric Hematology Department, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; INSERM UMR 1163, Paris, France.
Collège de France, Paris, France.

Geneviève de Saint Basile (G)

Laboratory of Normal and Pathological Homeostasis of the Immune System, INSERM UMR 1163, Paris, France.
Imagine Institute, Université de Paris, Paris, France.
Center for the Study of Primary Immunodeficiencies, Necker Enfants Malades Hospital, Assistance Publique des Hôpitaux de Paris, Paris, France.

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 › Eucaryotes › Animaux › Chronic Intestinal Pseudo-Obstruction and...
questionsmedicales.fr › Cellules › Cellules cultivées › Chronic Intestinal Pseudo-Obstruction and...
questionsmedicales.fr › États, signes et symptômes pathologiques › Processus pathologiques › Caractéristiques de la maladie › Maladie chronique › Chronic Intestinal Pseudo-Obstruction and...
questionsmedicales.fr › Phénomènes génétiques › Consanguinité › Chronic Intestinal Pseudo-Obstruction and...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Chronic Intestinal Pseudo-Obstruction and...
questionsmedicales.fr › Personnes › Tranches d'âge › Nourrisson › Chronic Intestinal Pseudo-Obstruction and...
questionsmedicales.fr › Maladies de l'appareil digestif › Maladies gastro-intestinales › Maladies intestinales › Occlusion intestinale › Iléus › Pseudo-obstruction intestinale › Chronic Intestinal Pseudo-Obstruction and...
questionsmedicales.fr › Maladies du système immunitaire › Syndromes immunoprolifératifs › Syndromes lymphoprolifératifs › Chronic Intestinal Pseudo-Obstruction and...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Souris › Chronic Intestinal Pseudo-Obstruction and...
questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Troubles nutritionnels › Malnutrition › Maladies de carence › Carence protéique › Chronic Intestinal Pseudo-Obstruction and...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Chronic Intestinal Pseudo-Obstruction and...