A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function.
Alleles
Amino Acid Substitution
Animals
Binding Sites
Cell Line, Tumor
Child
Disease Susceptibility
Female
Genetic Association Studies
Genotype
Humans
Infant
Lymphohistiocytosis, Hemophagocytic
/ diagnosis
Male
Mice
Models, Molecular
Molecular Conformation
Mutation
Phenotype
Protein Binding
cdc42 GTP-Binding Protein
/ chemistry
Journal
The Journal of experimental medicine
ISSN: 1540-9538
Titre abrégé: J Exp Med
Pays: United States
ID NLM: 2985109R
Informations de publication
Date de publication:
02 12 2019
02 12 2019
Historique:
received:
23
01
2019
revised:
19
04
2019
accepted:
06
08
2019
pubmed:
12
10
2019
medline:
17
6
2020
entrez:
12
10
2019
Statut:
ppublish
Résumé
Hemophagocytic lymphohistiocytosis (HLH) is characterized by immune dysregulation due to inadequate restraint of overactivated immune cells and is associated with a variable clinical spectrum having overlap with more common pathophysiologies. HLH is difficult to diagnose and can be part of inflammatory syndromes. Here, we identify a novel hematological/autoinflammatory condition (NOCARH syndrome) in four unrelated patients with superimposable features, including neonatal-onset cytopenia with dyshematopoiesis, autoinflammation, rash, and HLH. Patients shared the same de novo
Identifiants
pubmed: 31601675
pii: jem.20190147
doi: 10.1084/jem.20190147
pmc: PMC6888978
doi:
Substances chimiques
CDC42 protein, human
EC 3.6.5.2
cdc42 GTP-Binding Protein
EC 3.6.5.2
Banques de données
PDB
['1DOA']
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
2778-2799Subventions
Organisme : NIAID NIH HHS
ID : R01 AI067946
Pays : United States
Organisme : NIAID NIH HHS
ID : R01 AI120989
Pays : United States
Organisme : NHGRI NIH HHS
ID : UM1 HG006542
Pays : United States
Informations de copyright
© 2019 Lam et al.
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