AR-HIES
MCID: HYP829
MIFTS: 37

Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive (AR-HIES)

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

Aliases & Classifications for Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive

MalaCards integrated aliases for Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive:

Name: Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive 58
Hyperimmunoglobulin E Recurrent Infection Syndrome, Autosomal Recessive 54 26 76 30 6
Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive 58 13 41
Ar-Hies 54 26 76
Combined Immunodeficiency Due to Dock8 Deficiency 26 60
Hyperimmunoglobulin E Syndrome Type 2 26 76
Dock8 Immunodeficiency Syndrome 26 60
Cid Due to Dock8 Deficiency 26 60
Hies Autosomal Recessive 54 76
Dock8 Deficiency 54 26
Combined Immunodeficiency Due to Dedicator of Cytokinesis 8 Protein Deficiency 60
Hyper Ige Recurrent Infection Syndrome, Autosomal Recessive 26
Hyper-Ige Recurrent Infection Syndrome Autosomal Recessive 76
Hyper Immunoglobulin E Syndrome, Autosomal Recessive 26
Hyper Ig E Syndrome, Autosomal Recessive 54
Hyper-Ige Syndrome, Autosomal Recessive 58
Autosomal Recessive Hyper Ige Syndrome 54
Autosomal Recessive Hyper-Ige Syndrome 26
Hyper-Ige Syndrome Autosomal Recessive 76
Ar Hyperimmunoglobulin E Syndrome 54
Non-Skeletal Hyper-Ige Syndrome 26
Nonskeletal Hyper Ige Syndrome 76
Hies, Autosomal Recessive 58
Autosomal Recessive Hies 26
Hies2 58

Characteristics:

Orphanet epidemiological data:

60
combined immunodeficiency due to dock8 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
early death may occur due to infection
distinct disorder from autosomal dominant hyper ige syndrome


HPO:

33
hyper-ige recurrent infection syndrome 2, autosomal recessive:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare immunological diseases


Summaries for Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive

NIH Rare Diseases : 54 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.

MalaCards based summary : Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive, also known as hyperimmunoglobulin e recurrent infection syndrome, autosomal recessive, is related to immunodeficiency 35 and hyper ige syndrome. An important gene associated with Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive is DOCK8 (Dedicator Of Cytokinesis 8). The drugs Lenograstim and Fludarabine have been mentioned in the context of this disorder. Affiliated tissues include skin, t cells and b cells, and related phenotypes are chronic otitis media and skin ulcer

Genetics Home Reference : 26 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 : 58 Autosomal dominant hyper-IgE recurrent infection syndrome-1 (HIES1; 147060) is a primary immunodeficiency disorder characterized by recurrent Staphylococcus aureus skin abscesses, increased serum IgE, and abnormalities of the connective tissue, skeleton, and dentition (Buckley et al., 1972; Grimbacher et al., 1999). Autosomal recessive HIES2 shares hyper-IgE, eosinophilia, and recurrent Staphylococcal infections, but is distinguished from autosomal dominant HIES1 by the lack of connective tissue and skeletal involvement (Renner et al., 2004). See also TYK2 deficiency (611521), a clinically distinct disease entity that includes characteristic features of both autosomal recessive HIES2 and mendelian susceptibility to mycobacterial disease (MSMD; 209950) (Minegishi et al., 2006). For a discussion of genetic heterogeneity of hyper-IgE recurrent infection syndrome, see 147060. (243700)

UniProtKB/Swiss-Prot : 76 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 2, Autosomal Recessive

Diseases in the Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant family:

Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive

Diseases related to Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 20)
# Related Disease Score Top Affiliating Genes
1 immunodeficiency 35 11.5
2 hyper ige syndrome 10.3
3 factor viii deficiency 10.1
4 hematopoietic stem cell transplantation 10.1
5 molluscum contagiosum 10.1
6 epidermodysplasia verruciformis 1 10.0
7 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 10.0
8 leukemia, acute myeloid 10.0
9 leukemia 10.0
10 aggressive periodontitis 10.0
11 dermatitis 10.0
12 aortic aneurysm 10.0
13 pneumonia 10.0
14 eosinophilic pneumonia 10.0
15 progressive multifocal leukoencephalopathy 10.0
16 periodontitis 10.0
17 herpes simplex 10.0
18 vasculitis 10.0
19 chickenpox 10.0
20 myeloid leukemia 10.0

Graphical network of the top 20 diseases related to Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive:



Diseases related to Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive

Symptoms & Phenotypes for Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive

Human phenotypes related to Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive:

60 33 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 chronic otitis media 60 33 hallmark (90%) Very frequent (99-80%) HP:0000389
2 skin ulcer 60 33 hallmark (90%) Very frequent (99-80%) HP:0200042
3 asthma 60 33 hallmark (90%) Very frequent (99-80%) HP:0002099
4 decrease in t cell count 60 33 hallmark (90%) Very frequent (99-80%) HP:0005403
5 b lymphocytopenia 60 33 hallmark (90%) Very frequent (99-80%) HP:0010976
6 pneumonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002090
7 verrucae 60 33 hallmark (90%) Very frequent (99-80%) HP:0200043
8 recurrent bacterial skin infections 60 33 hallmark (90%) Very frequent (99-80%) HP:0005406
9 onychomycosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0012203
10 atopic dermatitis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001047
11 increased ige level 60 33 hallmark (90%) Very frequent (99-80%) HP:0003212
12 severe viral infections 60 33 hallmark (90%) Very frequent (99-80%) HP:0005364
13 recurrent candida infections 60 33 hallmark (90%) Very frequent (99-80%) HP:0005401
14 recurrent sinusitis 60 33 hallmark (90%) Very frequent (99-80%) HP:0011108
15 squamous cell carcinoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0002860
16 anal canal squamous carcinoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0006763
17 squamous cell carcinoma of the vulva 60 33 occasional (7.5%) Occasional (29-5%) HP:0030417
18 recurrent viral infections 60 33 Very frequent (99-80%) HP:0004429
19 recurrent respiratory infections 60 Very frequent (99-80%)
20 neoplasm 33 HP:0002664
21 eczema 33 HP:0000964
22 subarachnoid hemorrhage 33 HP:0002138
23 hemiplegia 33 HP:0002301
24 recurrent bacterial infections 33 HP:0002718
25 recurrent fungal infections 33 HP:0002841
26 eosinophilia 33 HP:0001880
27 cerebral vasculitis 33 HP:0005318
28 recurrent sinopulmonary infections 33 HP:0005425

Symptoms via clinical synopsis from OMIM:

58
Respiratory Airways:
asthma

Laboratory Abnormalities:
eosinophilia
increased serum ige
decreased t cells
decreased b cells
decreased natural killer cells
more
Respiratory:
recurrent sinopulmonary infections

Neoplasia:
increased susceptibility to carcinomas, especially cancers related to cutaneous viral infections

Immunology:
recurrent bacterial infections
recurrent viral infections
recurrent fungal infections
impaired t cell immunity
impaired t cell proliferation and activation
more
Skin Nails Hair Skin:
atopic dermatitis
eczema, severe
skin abscesses, recurrent

Neurologic Central Nervous System:
increased neurologic sequelae of infections (rare)
hemiplegia (rare)
ischemic infarction (rare)
subarachnoid hemorrhage (rare)

Clinical features from OMIM:

243700

Drugs & Therapeutics for Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive

Drugs for Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lenograstim Approved, Investigational Phase 2 135968-09-1
2
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751
3
Cyclophosphamide Approved, Investigational Phase 2 6055-19-2, 50-18-0 2907
4
Busulfan Approved, Investigational Phase 2 55-98-1 2478
5 Yellow Dock Phase 2
6 Antineoplastic Agents, Alkylating Phase 2
7 Anesthetics Phase 2
8 Immunosuppressive Agents Phase 2
9 Immunologic Factors Phase 2
10 Alkylating Agents Phase 2
11 Antirheumatic Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pilot Study of Reduced-Intensity Hematopoietic Stem Cell Transplant of DOCK8 Deficiency Recruiting NCT01176006 Phase 2 Fludarabine(Fludara, Berlex Laboratories);Cyclophosphamide(CTX, Cytoxan);Busulfan (Busulfex)
2 Apheresis of Patients With Immunodeficiency Recruiting NCT01212055
3 Study of Clinical Features and Genetics of Hyperimmunoglobulin E Recurrent Infection Recruiting NCT00006150
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 2, Autosomal Recessive

Genetic Tests for Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive

Genetic tests related to Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Hyperimmunoglobulin E Recurrent Infection Syndrome, Autosomal Recessive 30 DOCK8

Anatomical Context for Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive

MalaCards organs/tissues related to Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive:

42
Skin, T Cells, B Cells

Publications for Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive

Articles related to Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive:

# Title Authors Year
1
Insights into immunity from clinical and basic science studies of DOCK8 immunodeficiency syndrome. ( 30565250 )
2019
2
Genetic, clinical, and laboratory markers for DOCK8 immunodeficiency syndrome. ( 21178272 )
2010

Variations for Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive

UniProtKB/Swiss-Prot genetic disease variations for Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive:

76
# Symbol AA change Variation ID SNP ID
1 DOCK8 p.Lys473Arg VAR_063753 rs112321280

ClinVar genetic disease variations for Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive:

6 (show top 50) (show all 289)
# Gene Variation Type Significance SNP ID Assembly Location
1 DOCK8 NM_203447.3(DOCK8): c.5433G> A (p.Glu1811=) single nucleotide variant Benign rs1887957 GRCh38 Chromosome 9, 441952: 441952
2 DOCK8 NM_203447.3(DOCK8): c.5433G> A (p.Glu1811=) single nucleotide variant Benign rs1887957 GRCh37 Chromosome 9, 441952: 441952
3 DOCK8 NM_203447.3(DOCK8): c.404+16delT deletion Benign/Likely benign rs727505303 GRCh37 Chromosome 9, 289597: 289597
4 DOCK8 NM_203447.3(DOCK8): c.404+16delT deletion Benign/Likely benign rs727505303 GRCh38 Chromosome 9, 289597: 289597
5 DOCK8 NM_203447.3(DOCK8): c.3022C> T (p.Arg1008Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs16937932 GRCh38 Chromosome 9, 396836: 396836
6 DOCK8 NM_203447.3(DOCK8): c.3022C> T (p.Arg1008Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs16937932 GRCh37 Chromosome 9, 396836: 396836
7 DOCK8 NM_203447.3(DOCK8): c.5001C> T (p.His1667=) single nucleotide variant Benign/Likely benign rs35662752 GRCh37 Chromosome 9, 434897: 434897
8 DOCK8 NM_203447.3(DOCK8): c.5001C> T (p.His1667=) single nucleotide variant Benign/Likely benign rs35662752 GRCh38 Chromosome 9, 434897: 434897
9 DOCK8 NM_203447.3(DOCK8): c.289C> A (p.Pro97Thr) single nucleotide variant Benign rs529208 GRCh38 Chromosome 9, 286593: 286593
10 DOCK8 NM_203447.3(DOCK8): c.289C> A (p.Pro97Thr) single nucleotide variant Benign rs529208 GRCh37 Chromosome 9, 286593: 286593
11 DOCK8 NM_203447.3(DOCK8): c.709G> A (p.Glu237Lys) single nucleotide variant Benign/Likely benign rs11789099 GRCh37 Chromosome 9, 312134: 312134
12 DOCK8 NM_203447.3(DOCK8): c.709G> A (p.Glu237Lys) single nucleotide variant Benign/Likely benign rs11789099 GRCh38 Chromosome 9, 312134: 312134
13 DOCK8 NM_203447.3(DOCK8): c.3573C> T (p.Ser1191=) single nucleotide variant Benign rs13285348 GRCh37 Chromosome 9, 414824: 414824
14 DOCK8 NM_203447.3(DOCK8): c.3573C> T (p.Ser1191=) single nucleotide variant Benign rs13285348 GRCh38 Chromosome 9, 414824: 414824
15 DOCK8 NM_203447.3(DOCK8): c.4107C> G (p.Leu1369=) single nucleotide variant Benign rs2297079 GRCh38 Chromosome 9, 421032: 421032
16 DOCK8 NM_203447.3(DOCK8): c.4107C> G (p.Leu1369=) single nucleotide variant Benign rs2297079 GRCh37 Chromosome 9, 421032: 421032
17 DOCK8 NM_203447.3(DOCK8): c.3058A> G (p.Ile1020Val) single nucleotide variant Conflicting interpretations of pathogenicity rs151094543 GRCh38 Chromosome 9, 396872: 396872
18 DOCK8 NM_203447.3(DOCK8): c.3058A> G (p.Ile1020Val) single nucleotide variant Conflicting interpretations of pathogenicity rs151094543 GRCh37 Chromosome 9, 396872: 396872
19 DOCK8 NM_203447.3(DOCK8): c.1418A> G (p.Lys473Arg) single nucleotide variant Pathogenic rs112321280 GRCh37 Chromosome 9, 336714: 336714
20 DOCK8 NM_203447.3(DOCK8): c.1418A> G (p.Lys473Arg) single nucleotide variant Pathogenic rs112321280 GRCh38 Chromosome 9, 336714: 336714
21 DOCK8 NM_203447.3(DOCK8): c.1126-395_2971-2751del deletion Pathogenic GRCh37 Chromosome 9, 333830: 394034
22 DOCK8 NM_203447.3(DOCK8): c.1126-395_2971-2751del deletion Pathogenic GRCh38 Chromosome 9, 333830: 394034
23 DOCK8 NM_203447.3(DOCK8): c.1126-395_2971-2751del deletion Pathogenic NCBI36 Chromosome 9, 323830: 384034
24 DOCK8 NC_000009.12: g.311734_398139del86406 deletion Pathogenic GRCh37 Chromosome 9, 311734: 398139
25 DOCK8 NC_000009.12: g.311734_398139del86406 deletion Pathogenic GRCh38 Chromosome 9, 311734: 398139
26 DOCK8 NM_001193536.1(DOCK8): c.3290delC (p.Thr1097Lysfs) deletion Pathogenic rs113944762 GRCh38 Chromosome 9, 407033: 407033
27 DOCK8 NM_001193536.1(DOCK8): c.3290delC (p.Thr1097Lysfs) deletion Pathogenic rs113944762 GRCh37 Chromosome 9, 407033: 407033
28 DOCK8 NM_203447.3(DOCK8): c.3504_3505insTGGCTGCT (p.Ala1169Trpfs) insertion Pathogenic rs886037645 GRCh38 Chromosome 9, 407043: 407044
29 DOCK8 NM_203447.3(DOCK8): c.3504_3505insTGGCTGCT (p.Ala1169Trpfs) insertion Pathogenic rs886037645 GRCh37 Chromosome 9, 407043: 407044
30 DOCK8 NM_203447.3(DOCK8): c.6019dup (p.Tyr2007Leufs) duplication Pathogenic rs869312169 GRCh37 Chromosome 9, 452068: 452068
31 DOCK8 NM_203447.3(DOCK8): c.6019dup (p.Tyr2007Leufs) duplication Pathogenic rs869312169 GRCh38 Chromosome 9, 452068: 452068
32 DOCK8 NC_000009.12: g.204193_343954del139762 deletion Pathogenic GRCh37 Chromosome 9, 204193: 343954
33 DOCK8 NC_000009.12: g.204193_343954del139762 deletion Pathogenic GRCh38 Chromosome 9, 204193: 343954
34 DOCK8 NM_203447.3(DOCK8): c.3840+3A> G single nucleotide variant Benign/Likely benign rs16938572 GRCh37 Chromosome 9, 418210: 418210
35 DOCK8 NM_203447.3(DOCK8): c.3840+3A> G single nucleotide variant Benign/Likely benign rs16938572 GRCh38 Chromosome 9, 418210: 418210
36 DOCK8 NM_203447.3(DOCK8): c.952G> A (p.Ala318Thr) single nucleotide variant Benign/Likely benign rs35482838 GRCh37 Chromosome 9, 328079: 328079
37 DOCK8 NM_203447.3(DOCK8): c.952G> A (p.Ala318Thr) single nucleotide variant Benign/Likely benign rs35482838 GRCh38 Chromosome 9, 328079: 328079
38 DOCK8 NM_203447.3(DOCK8): c.54-1G> T single nucleotide variant Pathogenic/Likely pathogenic rs192864327 GRCh37 Chromosome 9, 271626: 271626
39 DOCK8 NM_203447.3(DOCK8): c.54-1G> T single nucleotide variant Pathogenic/Likely pathogenic rs192864327 GRCh38 Chromosome 9, 271626: 271626
40 DOCK8 NM_203447.3(DOCK8): c.2749G> A (p.Glu917Lys) single nucleotide variant Uncertain significance rs200899164 GRCh37 Chromosome 9, 382656: 382656
41 DOCK8 NM_203447.3(DOCK8): c.2749G> A (p.Glu917Lys) single nucleotide variant Uncertain significance rs200899164 GRCh38 Chromosome 9, 382656: 382656
42 DOCK8 NM_203447.3(DOCK8): c.663C> A (p.Asp221Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs139391329 GRCh37 Chromosome 9, 312088: 312088
43 DOCK8 NM_203447.3(DOCK8): c.663C> A (p.Asp221Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs139391329 GRCh38 Chromosome 9, 312088: 312088
44 DOCK8 NM_203447.3(DOCK8): c.3606T> C (p.Cys1202=) single nucleotide variant Conflicting interpretations of pathogenicity rs143919622 GRCh38 Chromosome 9, 414857: 414857
45 DOCK8 NM_203447.3(DOCK8): c.3606T> C (p.Cys1202=) single nucleotide variant Conflicting interpretations of pathogenicity rs143919622 GRCh37 Chromosome 9, 414857: 414857
46 DOCK8 NM_203447.3(DOCK8): c.3813A> G (p.Lys1271=) single nucleotide variant Conflicting interpretations of pathogenicity rs75411647 GRCh37 Chromosome 9, 418180: 418180
47 DOCK8 NM_203447.3(DOCK8): c.3813A> G (p.Lys1271=) single nucleotide variant Conflicting interpretations of pathogenicity rs75411647 GRCh38 Chromosome 9, 418180: 418180
48 DOCK8 NM_203447.3(DOCK8): c.380G> A (p.Arg127His) single nucleotide variant Conflicting interpretations of pathogenicity rs150742426 GRCh38 Chromosome 9, 289557: 289557
49 DOCK8 NM_203447.3(DOCK8): c.380G> A (p.Arg127His) single nucleotide variant Conflicting interpretations of pathogenicity rs150742426 GRCh37 Chromosome 9, 289557: 289557
50 DOCK8 NM_203447.3(DOCK8): c.2739C> T (p.Ser913=) single nucleotide variant Benign/Likely benign rs116523732 GRCh38 Chromosome 9, 382646: 382646

Expression for Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive

Search GEO for disease gene expression data for Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive.

Pathways for Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive

GO Terms for Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive

Sources for Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive

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