Cargando…

Multiple Intestinal Atresia With Combined Immune Deficiency Related to TTC7A Defect Is a Multiorgan Pathology: Study of a French-Canadian-Based Cohort

Hereditary multiple intestinal atresia (HMIA) is a rare cause of intestinal obstruction in humans associated with a profound combined immune deficiency. Deleterious mutations of the tetratricopeptide repeat domain–7A (TTC7A) gene lead to HMIA, although the mechanism(s) causing the disease in TTC7A d...

Descripción completa

Detalles Bibliográficos
Autores principales:	Fernandez, Isabel, Patey, Natalie, Marchand, Valérie, Birlea, Mirela, Maranda, Bruno, Haddad, Elie, Decaluwe, Hélène, Le Deist, Françoise
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer Health 2014
Materias:	3600
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4602622/ https://www.ncbi.nlm.nih.gov/pubmed/25546680 http://dx.doi.org/10.1097/MD.0000000000000327

Ejemplares similares

Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia
por: Samuels, Mark E, et al.
Publicado: (2013)

Identifying Mutations of the Tetratricopeptide Repeat Domain 37 (TTC37) Gene in Infants With Intractable Diarrhea and a Comparison of Asian and Non-Asian Phenotype and Genotype: A Global Case-report Study of a Well-Defined Syndrome With Immunodeficiency
por: Lee, Wen-I, et al.
Publicado: (2016)

Observational Study of a French and Belgian Multicenter Cohort of 23 Patients Diagnosed in Adulthood With Mevalonate Kinase Deficiency
por: Durel, Cécile-Audrey, et al.
Publicado: (2016)

Digestive-tract sarcoidosis: French nationwide case–control study of 25 cases
por: Ghrenassia, Etienne, et al.
Publicado: (2016)

Infections Revealing Complement Deficiency in Adults: A French Nationwide Study Enrolling 41 Patients
por: Audemard-Verger, A., et al.
Publicado: (2016)

Ophthalmic manifestations in IgG4-related disease: Clinical presentation and response to treatment in a French case-series
por: Ebbo, Mikael, et al.
Publicado: (2017)

Positron Emission Tomography scanning in Anti-Neutrophil Cytoplasmic Antibodies-Associated Vasculitis
por: Kemna, Michael J., et al.
Publicado: (2015)

Proliferative lupus nephritis in the absence of overt systemic lupus erythematosus: A historical study of 12 adult patients
por: Touzot, Maxime, et al.
Publicado: (2017)

Risk Factors for Autoimmune Diseases Development After Thrombotic Thrombocytopenic Purpura
por: Roriz, Mélanie, et al.
Publicado: (2015)

Cytokine Profiles Contribute to Understanding the Pathogenic Difference Between Good Syndrome and Oral Lichen Planus: Two Case Reports and Literature Review
por: Maehara, Takashi, et al.
Publicado: (2015)

Type 1 Diabetic Populations Have an Increased Prevalence of Parietal Cell Antibody: A Systematic Review and Meta-Analysis
por: Pan, Xi-Feng, et al.
Publicado: (2015)

Diagnostic Potential of Zymogen Granule Glycoprotein 2 Antibodies as Serologic Biomarkers in Chinese Patients With Crohn Disease
por: Zhang, Shulan, et al.
Publicado: (2015)

Serum Interleukin (IL)-9 and IL-10, but not T-Helper 9 (Th9) Cells, are Associated With Survival of Patients With Acute-on-Chronic Hepatitis B Liver Failure
por: Yu, Xueping, et al.
Publicado: (2016)

A Retrospective Study on the Significance of Liver Biopsy and Hepatitis B Surface Antigen in Chronic Hepatitis B Infection
por: Zeng, Da-Wu, et al.
Publicado: (2016)

Probiotics for Prevention of Atopy and Food Hypersensitivity in Early Childhood: A PRISMA-Compliant Systematic Review and Meta-Analysis of Randomized Controlled Trials
por: Zhang, Guo-Qiang, et al.
Publicado: (2016)

Distribution of Fatal Vibrio Vulnificus Necrotizing Skin and Soft-Tissue Infections: A Systematic Review and Meta-Analysis
por: Huang, Kuo-Chin, et al.
Publicado: (2016)

Magnetic Resonance Imaging of Patients With Chronic Lateral Epicondylitis: Is There a Relationship Between Magnetic Resonance Imaging Abnormalities of the Common Extensor Tendon and the Patient's Clinical Symptom?
por: Qi, Liang, et al.
Publicado: (2016)

Performance of the Existing Classification Criteria for Gout in Thai Patients Presenting With Acute Arthritis
por: Jatuworapruk, Kanon, et al.
Publicado: (2016)

Systemic Lupus Erythematosus and Antineutrophil Cytoplasmic Antibody-Associated Vasculitis Overlap Syndrome in Patients With Biopsy-Proven Glomerulonephritis
por: Jarrot, Pierre-Andre, et al.
Publicado: (2016)

IgG4-Related Disease: Dataset of 235 Consecutive Patients
por: Inoue, Dai, et al.
Publicado: (2015)

Pituitary Involvement in Granulomatosis With Polyangiitis: Report of 9 Patients and Review of the Literature
por: De Parisot, Audrey, et al.
Publicado: (2015)

Serum Cyr61 is Associated With Clinical Disease Activity and Inflammation in Patients With Systemic Lupus Erythematosus
por: Lin, Jinpiao, et al.
Publicado: (2015)

Intestinal Pseudo-Obstruction in Systemic Lupus Erythematosus: A Case Report and Review of the Literature
por: Wang, Jian-lin, et al.
Publicado: (2014)

Reversible Severe Eosinophilic Endomyocardial Fibrosis During Pregnancy: A Case Report
por: Pineton de Chambrun, Marc, et al.
Publicado: (2015)

Diagnostic Performance of Serum IgG4 Levels in Patients With IgG4-Related Disease
por: Yu, Kuang-Hui, et al.
Publicado: (2015)

Predictors of Mortality in Patients With Interstitial Lung Disease Treated With Corticosteroids: Results from a Cohort Study
por: Migita, Kiyoshi, et al.
Publicado: (2014)

Sublingual Immunotherapy for Asthmatic Children Sensitized to House Dust Mite: A Meta-Analysis
por: Liao, Wei, et al.
Publicado: (2015)

Sarcoidosis Occurring After Lymphoma: Report of 14 Patients and Review of the Literature
por: London, Jonathan, et al.
Publicado: (2014)

A Case of Stiff Person Syndrome: Immunomodulatory Effect of Benzodiazepines: Successful Rituximab and Tizanidine Therapy
por: Zdziarski, Przemyslaw
Publicado: (2015)

Pregnancy complicated with agranulocytosis
por: Wang, Hai, et al.
Publicado: (2016)

Immune checkpoint proteins PD-1 and TIM-3 are both highly expressed in liver tissues and correlate with their gene polymorphisms in patients with HBV-related hepatocellular carcinoma
por: Li, Zhu, et al.
Publicado: (2016)

Clinical characteristics and genetic profiles of 174 patients with X-linked agammaglobulinemia: Report from Shanghai, China (2000–2015)
por: Chen, Xia-Fang, et al.
Publicado: (2016)

Adult Onset Asthma and Periocular Xanthogranuloma (AAPOX), a Rare Entity With a Strong Link to IgG4-Related Disease: An Observational Case Report Study
por: London, Jonathan, et al.
Publicado: (2015)

A Review of GM-CSF Therapy in Sepsis
por: Mathias, Brittany, et al.
Publicado: (2015)

Is it relevant to screen young women hospitalized in psychiatric department for neuropsychiatric systemic lupus erythematosus (NPSLE)?: A prospective study of 100 psychiatric inpatients
por: Audemard-Verger, Alexandra, et al.
Publicado: (2016)

Systemic vasculitis associated with vemurafenib treatment: Case report and literature review
por: Mirouse, Adrien, et al.
Publicado: (2016)

Sputum pentraxin 3 as a candidate to assess airway inflammation and remodeling in childhood asthma
por: Kim, Min Jung, et al.
Publicado: (2016)

High Throughput Sequencing of T Cell Antigen Receptors Reveals a Conserved TCR Repertoire
por: Hou, Xianliang, et al.
Publicado: (2016)

DNA Microarray Analysis of Submandibular Glands in IgG4-Related Disease Indicates a Role for MARCO and Other Innate Immune-Related Proteins
por: Ohta, Miho, et al.
Publicado: (2016)

Characterization of Mycobacterium Abscessus Subtypes in Shanghai of China: Drug Sensitivity and Bacterial Epidemicity as well as Clinical Manifestations
por: Luo, Liulin, et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_0seg2q8q2ee7h1f57t0f0224gr