Cargando…

Homozygous IL37 mutation associated with infantile inflammatory bowel disease

Interleukin (IL)-37, an antiinflammatory IL-1 family cytokine, is a key suppressor of innate immunity. IL-37 signaling requires the heterodimeric IL-18R1 and IL-1R8 receptor, which is abundantly expressed in the gastrointestinal tract. Here we report a 4-mo-old male from a consanguineous family with...

Descripción completa

Detalles Bibliográficos
Autores principales:	Zhang, Zinan Z., Zhang, Yu, He, Tingyan, Sweeney, Colin L., Baris, Safa, Karakoc-Aydiner, Elif, Yao, Yikun, Ertem, Deniz, Matthews, Helen F., Gonzaga-Jauregui, Claudia, Malech, Harry L., Su, Helen C., Ozen, Ahmet, Smith, Kenneth G. C., Lenardo, Michael J.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	National Academy of Sciences 2021
Materias:	Biological Sciences
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7958356/ https://www.ncbi.nlm.nih.gov/pubmed/33674380 http://dx.doi.org/10.1073/pnas.2009217118

Ejemplares similares

Immunization practices in children with a history of allergies
por: Barış, Hatice Ezgi, et al.
Publicado: (2020)

GIMAP5 maintains liver endothelial cell homeostasis and prevents portal hypertension
por: Drzewiecki, Kaela, et al.
Publicado: (2021)

Normative Data of Thyroid Volume-Ultrasonographic Evaluation of 422 Subjects Aged 0-55 Years
por: Aydıner, Ömer, et al.
Publicado: (2015)

Reference values for T and B lymphocyte subpopulations in Turkish children and adults
por: BESCİ, Özge, et al.
Publicado: (2021)

Single-Center Experience in Vaccination of Children in Special Risk Groups: A Multidisciplinary Institutional Consensus Protocol
por: Ezgi Barış, Hatice, et al.
Publicado: (2023)

Pyridoxine-Responsive Seizures in Infantile Hypophosphatasia and a Novel Homozygous Mutation in ALPL Gene
por: Güzel Nur, Banu, et al.
Publicado: (2016)

Megalobastic anemia, infantile leukemia, and immunodeficiency caused by a novel homozygous mutation in the DHFR gene
por: Kuijpers, Taco W., et al.
Publicado: (2022)

Characterization of a knock-in mouse model of the homozygous p.V37I variant in Gjb2
por: Chen, Ying, et al.
Publicado: (2016)

An update on XMEN disease.
por: Ravell, Juan C., et al.
Publicado: (2020)

A novel homozygous initiation codon variant associated with infantile alpha‐Bcrystallinopathy in a Chinese family
por: Ma, Keze, et al.
Publicado: (2019)

Desmoplastic infantile astrocytoma with atypical phenotype, PTEN homozygous deletion and BRAF V600E mutation
por: Megías, Javier, et al.
Publicado: (2022)

Identification of Two Homozygous Variants in MYBPC3 and SMYD1 Genes Associated with Severe Infantile Cardiomyopathy
por: Szulik, Marta W., et al.
Publicado: (2023)

Genomic Spectrum and Phenotypic Heterogeneity of Human IL-21 Receptor Deficiency
por: Cagdas, Deniz, et al.
Publicado: (2021)

Broadly effective metabolic and immune recovery with C5 inhibition in CHAPLE disease
por: Ozen, Ahmet, et al.
Publicado: (2021)

Mechanisms of mRNA processing defects in inherited THOC6 intellectual disability syndrome
por: Werren, Elizabeth, et al.
Publicado: (2023)

Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation
por: Spiegel, Ronen, et al.
Publicado: (2016)

Current Diagnosis, Treatment and Clinical Challenges in the Management of Lipodystrophy Syndromes in Children and Young People
por: Özen, Samim, et al.
Publicado: (2020)

Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K
por: Lucas, Carrie L., et al.
Publicado: (2014)

Homozygous LMNA p.R582H pathogenic variant reveals increasing effect on the severity of fat loss in lipodystrophy
por: Soyaltin, Utku Erdem, et al.
Publicado: (2020)

Guías de enfermería obstétrica y materno-infantil /
por: Baston, Helen, 1962-
Publicado: (2018)

Case Report: Identification of a Novel Homozygous Mutation in GPD1 Gene of a Chinese Child With Transient Infantile Hypertriglyceridemia
por: Lin, Haihua, et al.
Publicado: (2021)

Homozygous variant p. Arg90His in NCF1 is associated with early-onset Interferonopathy: a case report
por: Schnappauf, Oskar, et al.
Publicado: (2021)

Target achievement and cardiovascular event rates with Lomitapide in homozygous Familial Hypercholesterolaemia
por: Blom, Dirk J., et al.
Publicado: (2018)

A Rare Tumor in Childhood Desmoplastic Infantile Astrocytoma: Two Case Reports
por: Tanık, Canan, et al.
Publicado: (2018)

PW01-004 – The sequence analysis in E148Q homozygous patients
por: Topaloglu, R, et al.
Publicado: (2013)

SUN-600 Presence of LMNA p.R582H Pathogenic Variant in Homozygous State Demonstrates Gene Dosage Effect on the Severity of Fat Loss in Lipodystrophy
por: Soyaltin, Utku Erdem, et al.
Publicado: (2020)

Probiotics and infantile atopic eczema
por: Akelma, Ahmet Zülfikar, et al.
Publicado: (2015)

Spectrum of Genetic Variants in a Cohort of 37 Laterality Defect Cases
por: Antony, Dinu, et al.
Publicado: (2022)

INFANTILE IATROGENIC CUSHING'S SYNDROME
por: Katar, Selahattin, et al.
Publicado: (2008)

Impaired respiratory burst contributes to infections in PKCδ-deficient patients
por: Neehus, Anna-Lena, et al.
Publicado: (2021)

A novel homozygous mutation in the glycerol-3-phosphate dehydrogenase 1 gene in a Chinese patient with transient infantile hypertriglyceridemia: a case report
por: Li, Jia-Qi, et al.
Publicado: (2018)

Homozygous familial hypercholesterolemia
por: Parihar, Ravi Kumar, et al.
Publicado: (2012)

Homozygous Familial Hypercholesterolemia
por: Nohara, Atsushi, et al.
Publicado: (2021)

A Novel Homozygous Mutation in the KCNJ11 Gene of a Neonate with Congenital Hyperinsulinism and Successful Management with Sirolimus
por: Ünal, Sevim, et al.
Publicado: (2016)

Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood
por: Lewis-Smith, David, et al.
Publicado: (2016)

Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family
por: Elsayed, Liena E. O., et al.
Publicado: (2018)

Prenatal hydrops fetalis associated with infantile free sialic acid storage disease due to a novel homozygous deletion in the SLC17A5 gene
por: Hasnain, Afia, et al.
Publicado: (2021)

CDKN2A/B Homozygous Deletions in Astrocytomas: A Literature Review
por: Yuile, Alexander, et al.
Publicado: (2023)

The Relationship Between the Yo-Yo Tests, Anaerobic Performance and Aerobic Performance in Young Soccer Players
por: Karakoç, Barış, et al.
Publicado: (2012)

Novel Presentation of Homozygous Familial Hypercholesterolemia With Homozygous Variants in Both LDLR and APOB Genes
por: Derenbecker, Robert, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_b4b9akto1lsrja69cat9bf64cb