AR-HIES
MCID: HYP373
MIFTS: 33

Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive (AR-HIES) malady

Categories: Genetic diseases, Rare diseases, Blood diseases, Bone diseases, Immune diseases, Skin diseases

Aliases & Classifications for Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive

Aliases & Descriptions for Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive:

Name: Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive 54 13
Hyperimmunoglobulin E Recurrent Infection Syndrome, Autosomal Recessive 50 25 66 29
Ar-Hies 50 25 66
Combined Immunodeficiency Due to Dock8 Deficiency 25 56
Autosomal Recessive Hyper Ige Syndrome 50 24
Hyperimmunoglobulin E Syndrome Type 2 25 66
Dock8 Immunodeficiency Syndrome 25 56
Cid Due to Dock8 Deficiency 25 56
Hies Autosomal Recessive 50 66
Autosomal Recessive Hies 24 25
Dock8 Deficiency 50 25
Combined Immunodeficiency Due to Dedicator of Cytokinesis 8 Protein Deficiency 56
Hyper Ige Recurrent Infection Syndrome, Autosomal Recessive 25
Autosomal Recessive Hyper Ige Recurrent Infection Syndrome 24
Autosomal Recessive Hyper-Ige Recurrent Infection Syndrome 24
Hyper-Ige Recurrent Infection Syndrome Autosomal Recessive 66
Hyper Immunoglobulin E Syndrome, Autosomal Recessive 25
Hyper-Immunoglobulin E Syndrome, Autosomal Recessive 69
Hyper Ig E Syndrome, Autosomal Recessive 50
Autosomal Recessive Hyper-Ige Syndrome 25
Hyper-Ige Syndrome Autosomal Recessive 66
Ar Hyperimmunoglobulin E Syndrome 50
Non-Skeletal Hyper-Ige Syndrome 25
Nonskeletal Hyper Ige Syndrome 66

Characteristics:

Orphanet epidemiological data:

56
combined immunodeficiency due to dock8 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood;

HPO:

32
hyper-ige recurrent infection syndrome, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 56  
Rare immunological diseases


External Ids:

OMIM 54 243700
Orphanet 56 ORPHA217390
ICD10 via Orphanet 34 D81.1
MedGen 40 C1968689
MeSH 42 D007589

Summaries for Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive

NIH Rare Diseases : 50 autosomal recessive hyper ige syndrome (ar-hies) is a very rare primary immunodeficiency syndrome characterized by highly elevated blood levels of immunoglobulin e (ige), recurrent staphylococcal skin abscesses, and recurrent pneumonia. the same features are also seen in the more frequent autosomal dominant hies syndrome. ar-hies accounts for only a small minority of hies cases, with about 130 affected families reported so far.in contrast to ad-hies, the ar variant is further characterized by extreme hypereosinophilia (increase in the eosinophil count in the bloodstream); susceptibility to viral infections such as herpes simplex and molluscum contagiosum; involvement of the central nervous system; t-cell defects; and a high death rate. the dental, skeletal, connective tissue, and facial features present in ad-hies are absent in ar-hies. ar-hies is inherited in an autosomal recessive fashion and is caused by mutations in the dock8 gene. last updated: 1/14/2014

MalaCards based summary : Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive, also known as hyperimmunoglobulin e recurrent infection syndrome, autosomal recessive, is related to immunodeficiency 35 and hyper ige syndrome, and has symptoms including chronic otitis media, skin ulcer and asthma. An important gene associated with Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive is DOCK8 (Dedicator Of Cytokinesis 8). The drugs Cyclophosphamide and Fludarabine have been mentioned in the context of this disorder. Affiliated tissues include skin, t cells and b cells.

Genetics Home Reference : 25 Autosomal recessive hyper-IgE syndrome (AR-HIES) is a disorder of the immune system. A hallmark feature of the condition is recurrent infections that are severe and can be life-threatening. Skin infections can be caused by bacteria, viruses, or fungi. These infections cause rashes, blisters, accumulations of pus (abscesses), open sores, and scaling. People with AR-HIES also tend to have frequent bouts of pneumonia and other respiratory tract infections.

OMIM : 54 Autosomal dominant hyper-IgE recurrent infection syndrome (147060) is a primary immunodeficiency disorder characterized... (243700) more...

UniProtKB/Swiss-Prot : 66 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive: A rare disorder characterized by immunodeficiency, recurrent infections, eczema, increased serum IgE, eosinophilia and lack of connective tissue and skeletal involvement.

Related Diseases for Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive

Diseases in the Hyper-Ige Recurrent Infection Syndrome family:

Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive

Diseases related to Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 immunodeficiency 35 11.3
2 hyper ige syndrome 10.3
3 hematopoietic stem cell transplantation 9.9
4 molluscum contagiosum 9.9

Symptoms & Phenotypes for Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive

Symptoms by clinical synopsis from OMIM:

243700

Clinical features from OMIM:

243700

Human phenotypes related to Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive:

56 32 (show all 28)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 chronic otitis media 56 32 Very frequent (99-80%) HP:0000389
2 skin ulcer 56 32 Very frequent (99-80%) HP:0200042
3 asthma 56 32 Very frequent (99-80%) HP:0002099
4 recurrent viral infections 56 32 Very frequent (99-80%) HP:0004429
5 b lymphocytopenia 56 32 Very frequent (99-80%) HP:0010976
6 pneumonia 56 32 Very frequent (99-80%) HP:0002090
7 verrucae 56 32 Very frequent (99-80%) HP:0200043
8 squamous cell carcinoma 56 32 Occasional (29-5%) HP:0002860
9 recurrent bacterial skin infections 56 32 Very frequent (99-80%) HP:0005406
10 onychomycosis 56 32 Very frequent (99-80%) HP:0012203
11 atopic dermatitis 56 32 Very frequent (99-80%) HP:0001047
12 increased ige level 56 32 Very frequent (99-80%) HP:0003212
13 severe viral infections 56 32 Very frequent (99-80%) HP:0005364
14 recurrent candida infections 56 32 Very frequent (99-80%) HP:0005401
15 anal canal squamous carcinoma 56 32 Occasional (29-5%) HP:0006763
16 recurrent sinusitis 56 32 Very frequent (99-80%) HP:0011108
17 hemiplegia 32 HP:0002301
18 recurrent respiratory infections 56 Very frequent (99-80%)
19 neoplasm 32 HP:0002664
20 eczema 32 HP:0000964
21 subarachnoid hemorrhage 32 HP:0002138
22 recurrent bacterial infections 32 HP:0002718
23 t lymphocytopenia 56 Very frequent (99-80%)
24 recurrent fungal infections 32 HP:0002841
25 eosinophilia 32 HP:0001880
26 recurrent sinopulmonary infections 32 HP:0005425
27 cerebral vasculitis 32 HP:0005318
28 decrease in t cell count 32 HP:0005403

Drugs & Therapeutics for Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive

Drugs for Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
2
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
3
Busulfan Approved, Investigational Phase 2 55-98-1 2478
4 Alkylating Agents Phase 2
5 Immunosuppressive Agents Phase 2
6 Antirheumatic Agents Phase 2
7 Antineoplastic Agents, Alkylating Phase 2
8 Yellow Dock Nutraceutical Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase
1 Pilot Study of Reduced-Intensity Hematopoietic Stem Cell Transplant of DOCK8 Deficiency Recruiting NCT01176006 Phase 2
2 Study of Clinical Features and Genetics of Hyperimmunoglobulin E Recurrent Infection Recruiting NCT00006150
3 Apheresis of Patients With Immunodeficiency Recruiting NCT01212055
4 Study of Voicing My CHOiCES as a Tool for Advanced Care Planning in Young Adults With Cancer Recruiting NCT02108028

Search NIH Clinical Center for Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive

Genetic Tests for Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive

Genetic tests related to Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive:

id Genetic test Affiliating Genes
1 Hyperimmunoglobulin E Recurrent Infection Syndrome, Autosomal Recessive 29
2 Autosomal Recessive Hyper Ige Syndrome 24 DOCK8

Anatomical Context for Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive

MalaCards organs/tissues related to Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive:

39
Skin, T Cells, B Cells

Publications for Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive

Variations for Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive

UniProtKB/Swiss-Prot genetic disease variations for Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive:

66
id Symbol AA change Variation ID SNP ID
1 DOCK8 p.Lys473Arg VAR_063753 rs112321280

ClinVar genetic disease variations for Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 DOCK8 NM_203447.3(DOCK8): c.1418A> G (p.Lys473Arg) single nucleotide variant Pathogenic rs112321280 GRCh37 Chromosome 9, 336714: 336714
2 DOCK8 NM_203447.3(DOCK8): c.1126-395_2971-2751del deletion Pathogenic GRCh37 Chromosome 9, 333830: 394034
3 DOCK8 NC_000009.12: g.311734_398139del86406 deletion Pathogenic GRCh37 Chromosome 9, 311734: 398139
4 DOCK8 NM_203447.3(DOCK8): c.3494delC (p.Thr1165Lysfs) deletion Pathogenic rs113944762 GRCh38 Chromosome 9, 407033: 407033
5 DOCK8 NM_203447.3(DOCK8): c.3504_3505insTGGCTGCT (p.Ala1169Trpfs) insertion Pathogenic rs886037645 GRCh38 Chromosome 9, 407043: 407044
6 DOCK8 NM_203447.3(DOCK8): c.6019dupT (p.Tyr2007Leufs) duplication Pathogenic rs869312169 GRCh37 Chromosome 9, 452068: 452068
7 DOCK8 NC_000009.11: g.204193_343954del139762 deletion Pathogenic GRCh37 Chromosome 9, 204193: 343954

Expression for Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive

Search GEO for disease gene expression data for Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive.

Pathways for Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive

GO Terms for Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive

Sources for Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....