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
A Novel Mutation in G6PC3 Gene Associated Non-syndromic Severe Congenital Neutropenia
Sign Up to like & getrecommendations! Published in 2020 at "Indian Pediatrics"
DOI: 10.1007/s13312-020-1861-3
Abstract: A Novel Mutation in G6PC3 Gene Associated Non-syndromic Severe Congenital Neutropenia TORCH titres were normal. Chromosomal breakage studies and stool for fat globules were negative. Ultrasound was not suggestive of pancreatic fibrosis or renal anomaly.… read more here.
Keywords: g6pc3 gene; novel mutation; gene associated; congenital neutropenia ... 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
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
Amyloidosis in a Patient With Congenital Neutropenia Because of G6PC3 Deficiency.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of pediatric hematology/oncology"
DOI: 10.1097/mph.0000000000002237
Abstract: Glucose-6-phosphatase catalytic subunit 3 (G6PC3) deficiency is a recently identified form of congenital neutropenia associated with developmental anomalies. The severity of neutropenia and the clinical spectrum are highly variable. Aside from infectious complications and extrahematologic… read more here.
Keywords: congenital neutropenia; deficiency; amyloidosis patient; g6pc3 deficiency ... 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
Congenital neutropenia in the era of genomics: classification, diagnosis, and natural history
Sign Up to like & getrecommendations! Published in 2017 at "British Journal of Haematology"
DOI: 10.1111/bjh.14887
Abstract: This review focuses on the classification, diagnosis and natural history of congenital neutropenia (CN). CN encompasses a number of genetic disorders with chronic neutropenia and, for some, affecting other organ systems, such as the pancreas,… read more here.
Keywords: diagnosis natural; natural history; classification diagnosis; congenital neutropenia ... See more keywords
Prominent venous circulation and thick lips in an 8‐year‐old boy with congenital neutropenia
Sign Up to like & getrecommendations! Published in 2019 at "Pediatric Dermatology"
DOI: 10.1111/pde.13760
Abstract: An 8yearold boy with prominent venous vessels and hyperlaxity was referred for asssessment of the cutaneous manifestations. He was the second child of consanguineous Moroccan parents, with a past history of cyclic thrombopenia and congenital… read more here.
Keywords: prominent venous; thick lips; congenital neutropenia; venous circulation ... See more keywords
Spectrum of ELANE mutations in congenital neutropenia: a single-centre study in patients of Indian origin
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Clinical Pathology"
DOI: 10.1136/jclinpath-2018-205235
Abstract: Aims Congenital and cyclical neutropenia are rare inherited diseases that result in recurrent life-threatening bacterial infections due to a deficiency of mature neutrophils. Cyclical neutropenia is usually caused by heterozygous ELANE mutations while congenital neutropenia… read more here.
Keywords: spectrum elane; mutations congenital; congenital neutropenia; elane ... See more keywords