AIIDE
MCID: ATN024
MIFTS: 22

Autoinflammation, Immune Dysregulation, and Eosinophilia (AIIDE)

Categories: Gastrointestinal diseases, Genetic diseases, Immune diseases, Skin diseases

Aliases & Classifications for Autoinflammation, Immune Dysregulation, and Eosinophilia

MalaCards integrated aliases for Autoinflammation, Immune Dysregulation, and Eosinophilia:

Name: Autoinflammation, Immune Dysregulation, and Eosinophilia 57 72 29 6
Atopic Dermatitis, Enteritis, Colitis, and Eosinophilia 57 72
Aiide 57 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset in early childhood
treatment with a jak inhibitor is effective
two unrelated families have been reported (last curated august 2020)


HPO:

31
autoinflammation, immune dysregulation, and eosinophilia:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Autoinflammation, Immune Dysregulation, and Eosinophilia

OMIM® : 57 Autoinflammation, immune dysregulation, and eosinophilia (AIIDE) is an autosomal dominant disorder characterized by onset of severe atopic dermatitis and chronic gastrointestinal inflammation, mainly involving the colon, in infancy or early childhood. Affected individuals tend to have asthma and food or environmental allergies, as well as poor overall growth with short stature. Laboratory studies show increased eosinophils with normal IgE levels, as well as evidence of a hyperactive immune state, including increased erythrocyte sedimentation rate and C-reactive protein. Treatment with JAK inhibitors, such as ruxolitinib and tofacitinib, results in dramatic clinical improvement (summary by Gruber et al., 2020). (618999) (Updated 05-Apr-2021)

MalaCards based summary : Autoinflammation, Immune Dysregulation, and Eosinophilia, is also known as atopic dermatitis, enteritis, colitis, and eosinophilia. An important gene associated with Autoinflammation, Immune Dysregulation, and Eosinophilia is JAK1 (Janus Kinase 1). Affiliated tissues include colon, kidney and liver, and related phenotypes are failure to thrive and nephrotic syndrome

UniProtKB/Swiss-Prot : 72 Autoinflammation, immune dysregulation, and eosinophilia: An autosomal dominant disorder characterized by immune dysregulation, severe atopic dermatitis, and chronic gastrointestinal inflammation. Additional features include asthma, food or environmental allergies, as well as poor overall growth with short stature.

Related Diseases for Autoinflammation, Immune Dysregulation, and Eosinophilia

Symptoms & Phenotypes for Autoinflammation, Immune Dysregulation, and Eosinophilia

Human phenotypes related to Autoinflammation, Immune Dysregulation, and Eosinophilia:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 very rare (1%) HP:0001508
2 nephrotic syndrome 31 very rare (1%) HP:0000100
3 asthma 31 very rare (1%) HP:0002099
4 eosinophilia 31 very rare (1%) HP:0001880
5 atopic dermatitis 31 very rare (1%) HP:0001047
6 hepatic cysts 31 very rare (1%) HP:0001407
7 membranous nephropathy 31 very rare (1%) HP:0012578
8 food allergy 31 very rare (1%) HP:0500093
9 colonic eosinophilia 31 very rare (1%) HP:0031813
10 hypothyroidism 31 HP:0000821
11 short stature 31 HP:0004322
12 hepatosplenomegaly 31 HP:0001433
13 recurrent viral infections 31 HP:0004429
14 eosinophilic liver infiltration 31 HP:0032021

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Other:
failure to thrive

Abdomen Liver:
hepatomegaly
eosinophilic infiltration

Respiratory:
asthma

Abdomen Gastrointestinal:
diarrhea
chronic gastritis
inflammation
eosinophilic infiltration

Laboratory Abnormalities:
increased c-reactive protein
increased esr

Skin Nails Hair Skin Histology:
inflammatory linear verrucous epidermal nevus (1 patient)

Abdomen Spleen:
splenomegaly

Growth Height:
short stature

Immunology:
eosinophilia
immune dysregulation
autoimmune manifestations
food allergies
environmental allergies
more
Skin Nails Hair Skin:
atopic dermatitis
pruritis

Genitourinary Kidneys:
nephrotic syndrome (patient a)
membranous nephropathy (patient a)
kidney transplant (patient a)

Clinical features from OMIM®:

618999 (Updated 05-Apr-2021)

Drugs & Therapeutics for Autoinflammation, Immune Dysregulation, and Eosinophilia

Search Clinical Trials , NIH Clinical Center for Autoinflammation, Immune Dysregulation, and Eosinophilia

Genetic Tests for Autoinflammation, Immune Dysregulation, and Eosinophilia

Genetic tests related to Autoinflammation, Immune Dysregulation, and Eosinophilia:

# Genetic test Affiliating Genes
1 Autoinflammation, Immune Dysregulation, and Eosinophilia 29 JAK1

Anatomical Context for Autoinflammation, Immune Dysregulation, and Eosinophilia

MalaCards organs/tissues related to Autoinflammation, Immune Dysregulation, and Eosinophilia:

40
Colon, Kidney, Liver, Thyroid

Publications for Autoinflammation, Immune Dysregulation, and Eosinophilia

Articles related to Autoinflammation, Immune Dysregulation, and Eosinophilia:

# Title Authors PMID Year
1
Complex Autoinflammatory Syndrome Unveils Fundamental Principles of JAK1 Kinase Transcriptional and Biochemical Function. 57 6
32750333 2020
2
JAK1 gain-of-function causes an autosomal dominant immune dysregulatory and hypereosinophilic syndrome. 6 57
28111307 2017
3
SREBP-1 binds to multiple sites and transactivates the human ApoA-II promoter in vitro : SREBP-1 mutants defective in DNA binding or transcriptional activation repress ApoA-II promoter activity. 61
10364076 1999
4
DNA binding specificity and transactivation properties of SREBP-2 bound to multiple sites on the human apoA-II promoter. 61
9927745 1999
5
[Differential diagnosis of delayed encephalopathy induced by anthelmintic imidazoles]. 61
8556929 1995

Variations for Autoinflammation, Immune Dysregulation, and Eosinophilia

ClinVar genetic disease variations for Autoinflammation, Immune Dysregulation, and Eosinophilia:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 JAK1 NM_002227.4(JAK1):c.1901C>A (p.Ala634Asp) SNV Pathogenic 225075 rs869312953 GRCh37: 1:65312418-65312418
GRCh38: 1:64846735-64846735
2 JAK1 NM_002227.4(JAK1):c.2108G>T (p.Ser703Ile) SNV Pathogenic 977461 GRCh37: 1:65311203-65311203
GRCh38: 1:64845520-64845520

Expression for Autoinflammation, Immune Dysregulation, and Eosinophilia

Search GEO for disease gene expression data for Autoinflammation, Immune Dysregulation, and Eosinophilia.

Pathways for Autoinflammation, Immune Dysregulation, and Eosinophilia

GO Terms for Autoinflammation, Immune Dysregulation, and Eosinophilia

Sources for Autoinflammation, Immune Dysregulation, and Eosinophilia

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....