PMID- 37596178
OWN - NLM
STAT- MEDLINE
DCOM- 20231113
LR  - 20231113
IS  - 1768-3122 (Electronic)
IS  - 0248-8663 (Linking)
VI  - 44
IP  - 11
DP  - 2023 Nov
TI  - [Monogenic auto-inflammatory diseases associated with actinopathies: A review of 
      the literature].
PG  - 585-593
LID - S0248-8663(23)00668-9 [pii]
LID - 10.1016/j.revmed.2023.06.005 [doi]
AB  - Auto-inflammatory diseases (AIDs) are diseases resulting from an inappropriate 
      activation of innate immunity in the absence of any infection. The field of 
      monogenic AIDs is constantly expanding, with the discovery of new pathologies and 
      pathophysiological mechanisms thanks to pangenomic sequencing. Actinopathies with 
      auto-inflammatory manifestations are a new emerging group of AIDs, linked to 
      defects in the regulation of the actin cytoskeleton dynamics. These diseases most 
      often begin in the neonatal period and combine to varying degrees a more or less 
      severe primary immune deficiency, cytopenias (especially thrombocytopenia), 
      auto-inflammatory manifestations (especially cutaneous and digestive), atopic and 
      auto-immune manifestations. The diagnosis is to be evoked essentially in front of 
      a cutaneous-digestive auto-inflammation picture of early onset, associated with a 
      primary immune deficiency and thrombocytopenia or a tendency to bleed. Some of 
      these diseases have specificities, including a risk of macrophagic activation 
      syndrome or a tendency to atopy or lymphoproliferation. We propose here a review 
      of the literature on these new diseases, with a proposal for a practical approach 
      according to the main associated biological abnormalities and some clinical 
      particularities. However, the diagnosis remains genetic, and several differential 
      diagnoses must be considered. The pathophysiology of these diseases is not yet 
      fully elucidated, and studies are needed to better clarify the inherent 
      mechanisms that can guide the choice of therapies. In most cases, the severity of 
      the picture indicates allogeneic marrow transplantation.
CI  - Copyright (c) 2023. Published by Elsevier Masson SAS.
FAU - Mertz, P
AU  - Mertz P
AD  - Service de rhumatologie, hopitaux universitaires de Strasbourg, centre national 
      de reference RESO, 67000 Strasbourg, France.
FAU - Hentgen, V
AU  - Hentgen V
AD  - Service de pediatrie, centre hospitalier de Versailles, centre de reference des 
      maladies auto-inflammatoires et de l'amylose (CEREMAIA), 78150 Le Chesnay, 
      France.
FAU - Boursier, G
AU  - Boursier G
AD  - Service de genetique moleculaire et cytogenomique, laboratoire de reference des 
      maladies rares et auto-inflammatoires, CEREMAIA, IRMB, Inserm, CHU de 
      Montpellier, universite de Montpellier, Montpellier, France.
FAU - Delon, J
AU  - Delon J
AD  - Universite Paris Cite, institut Cochin, Inserm, CNRS, 75014 Paris, France.
FAU - Georgin-Lavialle, S
AU  - Georgin-Lavialle S
AD  - Service de medecine interne, DHU32D, departement hospitalo-universitaire 
      Inflammation, immunopathologie, biotherapie, hopital Tenon, universite Paris, 
      Sorbonne universite, Assistance publique-Hopitaux de Paris (AP-HP), 4, rue de la 
      Chine, 75020 Paris, France; CHU de Tenon, centre de reference des maladies 
      auto-inflammatoires rares et de l'amylose inflammatoire (CEREMAIA), 75020 Paris, 
      France. Electronic address: sophie.georgin-lavialle@aphp.fr.
LA  - fre
PT  - English Abstract
PT  - Journal Article
PT  - Review
TT  - Revue de la litterature sur les syndromes auto-inflammatoires monogeniques lies 
      aux actinopathies.
DEP - 20230816
PL  - France
TA  - Rev Med Interne
JT  - La Revue de medecine interne
JID - 8101383
SB  - IM
MH  - Infant, Newborn
MH  - Humans
MH  - Immunity, Innate
MH  - Skin
MH  - *Thrombocytopenia
MH  - *Primary Immunodeficiency Diseases
OTO - NOTNLM
OT  - Actinopathies
OT  - Auto-inflammatory disease
OT  - Deficit immunitaire
OT  - Immunodeficiency
OT  - Maladie auto-inflammatoire
EDAT- 2023/08/19 11:42
MHDA- 2023/11/13 06:42
CRDT- 2023/08/18 22:02
PHST- 2023/05/03 00:00 [received]
PHST- 2023/06/06 00:00 [accepted]
PHST- 2023/11/13 06:42 [medline]
PHST- 2023/08/19 11:42 [pubmed]
PHST- 2023/08/18 22:02 [entrez]
AID - S0248-8663(23)00668-9 [pii]
AID - 10.1016/j.revmed.2023.06.005 [doi]
PST - ppublish
SO  - Rev Med Interne. 2023 Nov;44(11):585-593. doi: 10.1016/j.revmed.2023.06.005. Epub 
      2023 Aug 16.