Name: Immune dysregulation and systemic hyperinflammation syndrome | Acronym: IMDYSHI
Alt. names:

Gene: RC3H1 | MOI: Autosomal recessive | Mechanism of action:

No. of cases in DB: 0 | First reported in: 2019

Last updated on: 2023-02-28 16:41:18 by Andrés Caballero-Oteyza

OMIM: 618998

Orphanet: -

MONDO: -

DOID: -

ClinGen:

It is characterized by systemic hyperinflammation in the absence of an infectious agent or autoimmune trigger. Features include lymphadenopathy, hepatosplenomegaly, recurrent fever, and laboratory evidence of immune dysregulation with abnormal immune cell populations and increased serum levels of inflammatory cytokines. The phenotype is reminiscent of relapsing hemophagocytic lymphohistiocytosis (HLH; see FHL1, 267700) (summary by Tavernier et al., 2019).

Antibiotics or antiviral agents can be beneficial to treat/prevent infections that can trigger an exaggerated inflammatory response. Chemo/immunotherapy can achieve clinical stability prior to allogeneic hematopoietic cell transplantation (HCT), the only curative therapy.