Inherited deficiency of stress granule ZNFX1 in patients with monocytosis and mycobacterial disease.
A549 Cells
Adolescent
Antigens, Neoplasm
/ genetics
Cells, Cultured
Child
Cytoplasmic Granules
/ metabolism
Female
HEK293 Cells
HeLa Cells
Homozygote
Humans
Infant
Interferon-gamma
/ metabolism
Leukocytosis
/ genetics
Male
Mutation
Mycobacterium Infections, Nontuberculous
/ genetics
Pedigree
THP-1 Cells
Young Adult
ZNFX1
inborn error of immunity
inflammation
monocytosis
mycobacteria
Journal
Proceedings of the National Academy of Sciences of the United States of America
ISSN: 1091-6490
Titre abrégé: Proc Natl Acad Sci U S A
Pays: United States
ID NLM: 7505876
Informations de publication
Date de publication:
13 04 2021
13 04 2021
Historique:
entrez:
20
4
2021
pubmed:
21
4
2021
medline:
27
11
2021
Statut:
ppublish
Résumé
Human inborn errors of IFN-γ underlie mycobacterial disease, due to insufficient IFN-γ production by lymphoid cells, impaired myeloid cell responses to this cytokine, or both. We report four patients from two unrelated kindreds with intermittent monocytosis and mycobacterial disease, including bacillus Calmette-Guérin-osis and disseminated tuberculosis, and without any known inborn error of IFN-γ. The patients are homozygous for
Identifiants
pubmed: 33876776
pii: 2102804118
doi: 10.1073/pnas.2102804118
pmc: PMC8053974
pii:
doi:
Substances chimiques
Antigens, Neoplasm
0
ZNFX1 protein, human
0
Interferon-gamma
82115-62-6
Types de publication
Case Reports
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : NHGRI NIH HHS
ID : UM1 HG006504
Pays : United States
Organisme : NIAID NIH HHS
ID : R01 AI095983
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR001866
Pays : United States
Organisme : NIH HHS
ID : S10 OD018521
Pays : United States
Organisme : NIAID NIH HHS
ID : R37 AI095983
Pays : United States
Organisme : NIAID NIH HHS
ID : R01 AI088364
Pays : United States
Organisme : NHGRI NIH HHS
ID : U24 HG008956
Pays : United States
Déclaration de conflit d'intérêts
The authors declare no competing interest.
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