JAGN1 is required for fungal killing in neutrophil extracellular traps: Implications for severe congenital neutropenia
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Leukocyte Biology"
DOI: 10.1002/jlb.4a0118-030rr
Abstract: Mutations in the gene JAGN1 were recently discovered in patients with severe congenital neutropenia (SCN). Neutrophils release neutrophil extracellular traps (NETs) consisting of decondensed chromatin decorated with various granular proteins such as neutrophil elastase and… read more here.
Keywords: neutrophil extracellular; jagn1; congenital neutropenia; jagn1 required ... See more keywords
Two different techniques for frontalis suspension using Gore-Tex to treat severe congenital ptosis
Sign Up to like & getrecommendations! Published in 2017 at "Graefe's Archive for Clinical and Experimental Ophthalmology"
DOI: 10.1007/s00417-017-3611-3
Abstract: PurposeSevere congenital ptosis is commonly associated with poor levator function. This study compares the functional and cosmetic outcomes of open versus closed frontalis sling using Gore-Tex in the treatment of such conditions.MethodsRandomized interventional comparative case… read more here.
Keywords: using gore; group; severe congenital; gore tex ... See more keywords
SARS-CoV-2 Infection in a Child with Severe Congenital Neutropenia
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Clinical Immunology"
DOI: 10.1007/s10875-021-01054-y
Abstract: The global pandemic of severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) infection has resulted in unprecedented anxiety and fear among many patient communities, especially those with underlying immunological perturbations. From the very beginning of this novel… read more here.
Keywords: infection; severe congenital; infection child; child severe ... See more keywords
Human iPSC-based model of severe congenital neutropenia reveals elevated UPR and DNA damage in CD34+ cells preceding leukemic transformation.
Sign Up to like & getrecommendations! Published in 2019 at "Experimental hematology"
DOI: 10.1016/j.exphem.2018.12.006
Abstract: We describe the establishment of an embryoid-body-based protocol for hematopoietic/myeloid differentiation of human induced pluripotent stem cells that allows the generation of CD34+ cells or mature myeloid cells in vitro. Using this model, we were… read more here.
Keywords: dna damage; congenital neutropenia; cd34 cells; severe congenital ... See more keywords
Evaluation of the effects of mesenchymal stem cells on neutrophils isolated from severe congenital neutropenia patients.
Sign Up to like & getrecommendations! Published in 2020 at "International immunopharmacology"
DOI: 10.1016/j.intimp.2020.106463
Abstract: Neutrophils are the most abundant, yet with the shortest lifespan among the circulating leukocytes. These cells are produced in the bone marrow during granulopoiesis process. Severe congenital neutropenia (SCN) is a hematological disorder with disturbance… read more here.
Keywords: neutrophils isolated; congenital neutropenia; severe congenital; stem cells ... See more keywords
Structural and Functional Impact of SRP54 Mutations Causing Severe Congenital Neutropenia.
Sign Up to like & getrecommendations! Published in 2020 at "Structure"
DOI: 10.1016/j.str.2020.09.008
Abstract: The SRP54 GTPase is a key component of co-translational protein targeting by the signal recognition particle (SRP). Point mutations in SRP54 have been recently shown to lead to a form of severe congenital neutropenia displaying… read more here.
Keywords: srp54 mutations; functional impact; congenital neutropenia; severe congenital ... See more keywords
Association between initial ventilation mode and hospital outcomes for severe congenital diaphragmatic hernia
Sign Up to like & getrecommendations! Published in 2024 at "Journal of Perinatology"
DOI: 10.1038/s41372-024-02024-z
Abstract: To determine the association between initial delivery room (DR) ventilator (conventional mechanical ventilation [CMV] versus high frequency oscillatory ventilation [HFOV] and hospital outcomes for infants with severe congenital diaphragmatic hernia (CDH). Quasi-experimental design before/after introducing… read more here.
Keywords: association initial; congenital diaphragmatic; diaphragmatic hernia; severe congenital ... See more keywords
Description of an ELANE Mutation in a Girl with Severe Congenital Neutropenia: A Paradigm of Targeted Genetic Screening Based on Clinical Findings.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of pediatric genetics"
DOI: 10.1055/s-0038-1670724
Abstract: We describe the case of a 5-year-old girl with severe congenital neutropenia presenting with recurrent skin and respiratory infections. Sequence analysis of ELANE and HAX1 genes identified a mutation in heterozygous state in exon 2… read more here.
Keywords: congenital neutropenia; elane; severe congenital; girl severe ... See more keywords
Novel GNE Gene Variants Associated with Severe Congenital Thrombocytopenia and Platelet Sialylation Defect.
Sign Up to like & getrecommendations! Published in 2022 at "Thrombosis and haemostasis"
DOI: 10.1055/s-0041-1742207
Abstract: The GNE gene encodes an enzyme that initiates and regulates the biosynthesis of N-acetylneuraminic acid, a precursor of sialic acids. GNE mutations are classically associated with Nonaka myopathy and sialuria, following an autosomal recessive and… read more here.
Keywords: defect; gne; thrombocytopenia; platelet ... See more keywords
Family Knowledge, Attitudes, and Practices Toward Severe Congenital Neutropenia
Sign Up to like & getrecommendations! Published in 2023 at "Journal of Pediatric Hematology/Oncology"
DOI: 10.1097/mph.0000000000002634
Abstract: Severe congenital neutropenia is a rare disorder. The survival and quality of life of patients radically improved through infection prevention, use of granulocyte colony-stimulating factor, and the appropriate use of antibiotics during infections. The aim… read more here.
Keywords: family knowledge; knowledge attitudes; congenital neutropenia; knowledge ... See more keywords
Absence of Neutropenia in Patients With Early Exon Nonsense Mutations in ELANE: Clinical Evidence to Support Gene Therapy Approaches for Severe Congenital Neutropenia
Sign Up to like & getrecommendations! Published in 2024 at "Journal of Pediatric Hematology/Oncology"
DOI: 10.1097/mph.0000000000002908
Abstract: Severe congenital neutropenia is an inherited bone marrow failure disorder characterized by profoundly low neutrophil counts and promyelocytic maturation arrest in bone marrow. Severe congenital neutropenia is most often caused by heterozygous ELANE mutations. In… read more here.
Keywords: congenital neutropenia; severe congenital; gene therapy; neutropenia ... See more keywords