IMDYSHI
MCID: IMM231
MIFTS: 17

Immune Dysregulation and Systemic Hyperinflammation Syndrome (IMDYSHI)

Categories: Genetic diseases, Immune diseases, Liver diseases, Neuronal diseases

Aliases & Classifications for Immune Dysregulation and Systemic Hyperinflammation Syndrome

MalaCards integrated aliases for Immune Dysregulation and Systemic Hyperinflammation Syndrome:

Name: Immune Dysregulation and Systemic Hyperinflammation Syndrome 57
Hemophagocytic Lymphohistiocytosis, Familial, 6 72 6
Hemophagocytic Lymphohistiocytosis, Familial, 6, Formerly; Fhl6, Formerly 57
Hemophagocytic Lymphohistiocytosis, Familial, 6, Formerly 57
Fhl6, Formerly 57
Imdyshi 57
Fhl6 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
onset in first decade
one patient has been reported (last curated august 2020)
relapsing phenotype
heterozygous mutation carriers may have a predisposition for autoinflammation


Classifications:



External Ids:

OMIM® 57 618998
MeSH 44 D051359
MedGen 41 CN283343

Summaries for Immune Dysregulation and Systemic Hyperinflammation Syndrome

OMIM® : 57 Immune dysregulation and systemic hyperinflammation syndrome (IMDYSHI) is an autosomal recessive immunologic disorder 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). (618998) (Updated 05-Apr-2021)

MalaCards based summary : Immune Dysregulation and Systemic Hyperinflammation Syndrome, is also known as hemophagocytic lymphohistiocytosis, familial, 6. An important gene associated with Immune Dysregulation and Systemic Hyperinflammation Syndrome is RC3H1 (Ring Finger And CCCH-Type Domains 1). Affiliated tissues include t cells and b cells.

UniProtKB/Swiss-Prot : 72 Hemophagocytic lymphohistiocytosis, familial, 6: A form of hemophagocytic lymphohistiocytosis, a rare disorder characterized by immune dysregulation with hypercytokinemia, defective function of natural killer cell, and massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently neurological abnormalities ranging from irritability and hypotonia to seizures, cranial nerve deficits and ataxia. FHL6 inheritance is autosomal recessive.

Related Diseases for Immune Dysregulation and Systemic Hyperinflammation Syndrome

Symptoms & Phenotypes for Immune Dysregulation and Systemic Hyperinflammation Syndrome

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Abdomen Spleen:
splenomegaly

Growth Height:
short stature

Metabolic Features:
fever

Head And Neck Neck:
webbed neck

Laboratory Abnormalities:
decreased fibrinogen
increased ferritin
increased triglycerides

Abdomen Liver:
hepatomegaly

Neurologic Central Nervous System:
intellectual disability, mild

Hematology:
anemia

Immunology:
immune dysregulation
hyperinflammatory state
increased levels of effector cd8+ t cells
increased tregs
increased cd4+ t cells
more

Clinical features from OMIM®:

618998 (Updated 05-Apr-2021)

Drugs & Therapeutics for Immune Dysregulation and Systemic Hyperinflammation Syndrome

Search Clinical Trials , NIH Clinical Center for Immune Dysregulation and Systemic Hyperinflammation Syndrome

Genetic Tests for Immune Dysregulation and Systemic Hyperinflammation Syndrome

Anatomical Context for Immune Dysregulation and Systemic Hyperinflammation Syndrome

MalaCards organs/tissues related to Immune Dysregulation and Systemic Hyperinflammation Syndrome:

40
T Cells, B Cells

Publications for Immune Dysregulation and Systemic Hyperinflammation Syndrome

Articles related to Immune Dysregulation and Systemic Hyperinflammation Syndrome:

(showing 2, show less)
# Title Authors PMID Year
1
A human immune dysregulation syndrome characterized by severe hyperinflammation with a homozygous nonsense Roquin-1 mutation. 57
31636267 2019
2
A RING-type ubiquitin ligase family member required to repress follicular helper T cells and autoimmunity. 57
15917799 2005

Variations for Immune Dysregulation and Systemic Hyperinflammation Syndrome

ClinVar genetic disease variations for Immune Dysregulation and Systemic Hyperinflammation Syndrome:

6 (showing 1, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RC3H1 NM_172071.4(RC3H1):c.2062C>T (p.Arg688Ter) SNV Pathogenic 977475 GRCh37: 1:173931003-173931003
GRCh38: 1:173961865-173961865

Expression for Immune Dysregulation and Systemic Hyperinflammation Syndrome

Search GEO for disease gene expression data for Immune Dysregulation and Systemic Hyperinflammation Syndrome.

Pathways for Immune Dysregulation and Systemic Hyperinflammation Syndrome

GO Terms for Immune Dysregulation and Systemic Hyperinflammation Syndrome

Sources for Immune Dysregulation and Systemic Hyperinflammation Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....