HEM1 Actin Immunodysregulatory Disorder: Genotypes, Phenotypes, and Future Directions.
Actinopathy
Autoimmunity
Autoinflammation
HLH
NCKAP1L
SLE
WRC
Journal
Journal of clinical immunology
ISSN: 1573-2592
Titre abrégé: J Clin Immunol
Pays: Netherlands
ID NLM: 8102137
Informations de publication
Date de publication:
11 2022
11 2022
Historique:
received:
21
04
2022
accepted:
01
07
2022
pubmed:
23
7
2022
medline:
30
11
2022
entrez:
22
7
2022
Statut:
ppublish
Résumé
Cells of the innate and adaptive immune systems depend on proper actin dynamics to control cell behavior for effective immune responses. Dysregulated actin networks are known to play a pathogenic role in an increasing number of inborn errors of immunity. The WAVE regulatory complex (WRC) mediates branched actin polymerization, a process required for key cellular functions including migration, phagocytosis, vesicular transport, and immune synapse formation. Recent reports of pathogenic variants in NCKAP1L, a hematopoietically restricted gene encoding the HEM1 protein component of the WRC, defined a novel disease involving recurrent bacterial and viral infections, autoimmunity, and excessive inflammation (OMIM 141180). This review summarizes the diverse clinical presentations and immunological phenotypes observed in HEM1-deficient patients. In addition, we integrate the pathophysiological mechanisms described in current literature and highlight the outstanding questions for diagnosis and management of the HEM1 actin immunodysregulatory disorder.
Identifiants
pubmed: 35869404
doi: 10.1007/s10875-022-01327-0
pii: 10.1007/s10875-022-01327-0
pmc: PMC9700602
doi:
Substances chimiques
Actins
0
NCKAP1L protein, human
144351-15-5
Membrane Proteins
0
Types de publication
Journal Article
Review
Research Support, N.I.H., Intramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
1583-1592Informations de copyright
© 2022. This is a U.S. Government work and not under copyright protection in the US; foreign copyright protection may apply.
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