MCID: HYP373
MIFTS: 32

Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive malady

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

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

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

Name: Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive 49 11
Hyperimmunoglobulin E Recurrent Infection Syndrome, Autosomal Recessive 45 23 67 24
Ar-Hies 45 23 67
Combined Immunodeficiency Due to Dock8 Deficiency 23 51
Autosomal Recessive Hyper Ige Syndrome 45 22
Hyperimmunoglobulin E Syndrome Type 2 23 67
Dock8 Immunodeficiency Syndrome 23 51
Cid Due to Dock8 Deficiency 23 51
Autosomal Recessive Hies 22 23
Hies Autosomal Recessive 45 67
Dock8 Deficiency 45 23
Combined Immunodeficiency Due to Dedicator of Cytokinesis 8 Protein Deficiency 51
 
Hyper Ige Recurrent Infection Syndrome, Autosomal Recessive 23
Autosomal Recessive Hyper-Ige Recurrent Infection Syndrome 22
Autosomal Recessive Hyper Ige Recurrent Infection Syndrome 22
Hyper-Ige Recurrent Infection Syndrome Autosomal Recessive 67
Hyper Immunoglobulin E Syndrome, Autosomal Recessive 23
Hyper-Immunoglobulin E Syndrome, Autosomal Recessive 65
Hyper Ig E Syndrome, Autosomal Recessive 45
Autosomal Recessive Hyper-Ige Syndrome 23
Hyper-Ige Syndrome Autosomal Recessive 67
Ar Hyperimmunoglobulin E Syndrome 45
Non-Skeletal Hyper-Ige Syndrome 23
Nonskeletal Hyper Ige Syndrome 67

Characteristics:

Orphanet epidemiological data:

51
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:

61
hyper-ige recurrent infection syndrome, autosomal recessive:
Onset and clinical course: infantile onset
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 243700
Orphanet51 217390
ICD10 via Orphanet28 D81.1
MedGen34 C1968689
MeSH36 D007589

Summaries for Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive

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NIH Rare Diseases:45 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 susceptibility to infection due to tyk2 deficiency, and has symptoms including verrucae, skin ulcer and cellular immunodeficiency. An important gene associated with Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive is DOCK8 (Dedicator Of Cytokinesis 8). Affiliated tissues include skin, t cells and b cells.

Genetics Home Reference:23 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:49 Autosomal dominant hyper-IgE recurrent infection syndrome (147060) is a primary immunodeficiency disorder characterized... (243700) more...

UniProtKB/Swiss-Prot:67 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

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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:

(show all 17)
idRelated DiseaseScoreTop Affiliating Genes
1immunodeficiency 3511.6
2susceptibility to infection due to tyk2 deficiency11.6
3obesity10.3
4hereditary angioedema10.3
5angioedema10.3
6periarteritis nodosa10.3
7rheumatoid arthritis10.3
8arthritis10.3
9hyper ige syndrome10.2
10colorectal cancer10.2
11thalassemia10.2
12st. louis encephalitis10.2
13cornelia de lange syndrome10.2
14generalized anxiety disorder10.2
15anxiety disorder10.2
16encephalitis10.2
17sickle cell disease10.2

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



Diseases related to hyper-ige recurrent infection syndrome, autosomal recessive

Symptoms for Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive

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Symptoms by clinical synopsis from OMIM:

243700

Clinical features from OMIM:

243700

Symptoms:

 51 (show all 14)
  • nasal congestion/sinusitis/rhinitis/rhinorrhea
  • chronic/relapsing otitis
  • chronic skin infection/ulcerations/ulcers/cancrum
  • eczema
  • warts/papillomas
  • ground-glass/reticular/alveolar/interstitial lung/pulmonary opacity
  • asthma/bronchospasm
  • repeat respiratory infections
  • agammaglobulinemia/hypogammaglobulinemia/b-cell deficiency
  • t-cell deficiency/cellular immunity deficiency
  • severe allergic reaction/atopy
  • autosomal recessive inheritance
  • neoplasms/tumors
  • skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma)

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

(show all 20)
id Description Frequency HPO Source Accession
1 verrucae hallmark (90%) HP:0200043
2 skin ulcer hallmark (90%) HP:0200042
3 cellular immunodeficiency hallmark (90%) HP:0005374
4 decreased antibody level in blood hallmark (90%) HP:0004313
5 asthma hallmark (90%) HP:0002099
6 eczema hallmark (90%) HP:0000964
7 otitis media hallmark (90%) HP:0000388
8 sinusitis hallmark (90%) HP:0000246
9 recurrent sinopulmonary infections HP:0005425
10 cerebral vasculitis HP:0005318
11 recurrent viral infections HP:0004429
12 recurrent fungal infections HP:0002841
13 recurrent bacterial infections HP:0002718
14 neoplasm HP:0002664
15 hemiplegia HP:0002301
16 subarachnoid hemorrhage HP:0002138
17 asthma HP:0002099
18 eosinophilia HP:0001880
19 atopic dermatitis HP:0001047
20 eczema HP:0000964

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

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Busulfanapproved, investigationalPhase 250655-98-12478
Synonyms:
1, 4-Dimethanesulfonoxybutane
1, 4-Dimethylsulfonoxybutane
1, {4-Bis[methanesulfonoxy]butane}
1,4-BUTANEDIOL DIMETHANESULFONATE
1,4-Bis(methanesulfonoxy)butane
1,4-Bis(methanesulfonyloxy)butane
1,4-Bis[methanesulfonoxy]butane
1,4-Butanedi yl dimethanesulfonate
1,4-Butanediol dimethanesulfonate
1,4-Butanediol dimethanesulphonate
1,4-Butanediol dimethylsulfonate
1,4-Butanediol, dimethanesulfonate
1,4-Butanediol, dimethanesulphonate
1,4-Butanediyl dimethanesulfonate
1,4-Di(methylsulfonoxy)butane
1,4-Dimesyloxybutane
1,4-Dimethane sulfonyl oxybutane
1,4-Dimethanesulfonoxybutane
1,4-Dimethanesulfonoxylbutane
1,4-Dimethanesulfonyloxybutane
1,4-Dimethanesulphonyloxybutane
1,4-Dimethylsulfonoxybutane
1,4-Dimethylsulfonyloxybutane
2041 C. B
2041 C. B.
2041 C.B
2041 C.B.
4-((Methylsulfonyl)oxy)butyl methanesulfonate
4-methylsulfonyloxybutyl methanesulfonate
55-98-1
AC-198
AC1L1DRQ
AC1Q4GRQ
AI3-25012
AKOS003614975
AN 33501
Ambap55-98-1
B1022
B2635_FLUKA
B2635_SIGMA
BRN 1791786
BSPBio_001920
BUSULFAN (1,4-BUTANEDIOL, DIMETHANESULFONATE)
Bisulfex
Busilvex
Busulfan
Busulfan (JP15/USP/INN)
Busulfan GlaxoSmithKline Brand
Busulfan Orphan Brand
Busulfan Wellcome
Busulfan Wellcome Brand
Busulfan [INN:JAN]
Busulfano
Busulfano [INN-Spanish]
Busulfanum
Busulfanum [INN-Latin]
Busulfex
Busulphan
Busulphane
Butanedioldimethanesulfonate
Buzulfan
C.B. 2041
C6H14O6S2
CB 2041
CCRIS 418
CHEBI:28901
CHEMBL820
CID2478
CPD000058613
Citosulfan
D002066
D00248
DB01008
DivK1c_000847
EINECS 200-250-2
FT-0083567
G.T. 41
GT 2041
GT 41
Glaxo Wellcome Brand of Busulfan
GlaxoSmithKline Brand of Busulfan
Glyzophrol
HMS1920I07
HMS2091O09
HMS502K09
 
HSDB 7605
I09-1371
IDI1_000847
InChI=1/C6H14O6S2/c1-13(7,8)11-5-3-4-6-12-14(2,9)10/h3-6H2,1-2H3
KBio1_000847
KBio2_000512
KBio2_003080
KBio2_005648
KBio3_001420
KBioGR_000698
KBioSS_000512
LS-1358
Leucosulfan
MLS001076666
MYLERAN (TN)
Mablin
Methanesulfonic
Methanesulfonic acid, tetram ethylene ester
Methanesulfonic acid, tetramethylene ester
Mielevcin
Mielosan
Mielucin
Milecitan
Mileran
Misulban
Mitosan
Mitostan
MolPort-001-783-406
Myeleukon
Myeloleukon
Myelosan
Myelosanum
Mylecytan
Myleran
Myleran Tablets
Myleran tablets
Myleran, Busulfex, Busulfan
Mylerlan
NCGC00090905-01
NCGC00090905-02
NCGC00090905-03
NCGC00090905-04
NCGC00090905-05
NCGC00090905-06
NCGC00090905-07
NCI-C01592
NCI60_041640
NCIMech_000192
NINDS_000847
NSC 750
NSC-750
NSC-750sulphabutin
NSC750
Orphan Brand of Busulfan
Prestwick_989
S1692_Selleck
SAM002554887
SMR000058613
SPBio_000253
SPECTRUM1500152
ST50825921
Spectrum2_000067
Spectrum3_000320
Spectrum4_000259
Spectrum5_000928
Spectrum_000092
Sulfabutin
Sulfabutin (VAN)
Sulphabutin
Tetramethylene Dimethane Sulfonate
Tetramethylene bis(methanesulfonate)
Tetramethylene bis[methanesulfonate]
Tetramethylene dimethane sulfonate
Tetramethylene {bis[methanesulfonate]}
Tetramethylenester Kyseliny Methansulfonove
Tetramethylenester kyseliny methansulfonove
Tetramethylenester kyseliny methansulfonove [Czech]
UNII-G1LN9045DK
WLN: WS1&O4OSW1
Wellcome Brand of Busulfan
Wellcome, Busulfan
X 149
acid, tetramethylene ester
alkylating agent: crosslinks guanine residues
busulfan
butane-1,4-diyl dimethanesulfonate
n-Butane-1,3-di(methylsulfonate)
2
FludarabineapprovedPhase 2105921679-14-1, 75607-67-930751
Synonyms:
(2R,3S,4S,5R)-2-(6-amino-2-fluoro-9H-purin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
(2R,3S,4S,5R)-2-(6-amino-2-fluoropurin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
2-F-ara-A
2-Fluoro Ara-A
2-Fluoro-9-beta-D-arabinofuranosyladenine
2-Fluoro-ara AMP
2-Fluoroadenine arabinoside 5'-monophosphate
21679-14-1
2F-Ara-AMP
9-beta-Arabinofuranosyl-2-fluoroadenine-5'-phosphate
9-beta-D-Arabinofuranosyl-2-fluoroadenine
9-beta-D-Arabinofuranosyl-2-fluoroadenine 5'-(dihydrogen phosphate)
9-beta-D-Arabinofuranosyl-2-fluoroadenine 5'-monophosphate
9-beta-D-arabinofuranosyl-2-fluoro-9H-purin-6-amine
9H-Purin-6-amine, 9-beta-D-arabinofuranosyl-2-fluoro- (9CI)
AC1LCW8I
AC1Q51CF
C10H12FN5O4
CCRIS 3382
CHEMBL1568
CID657237
CPD000058874
D07966
EINECS 244-525-5
F-Ara-A
FAMP
FT-0082766
FaraA
Fludara
 
Fludara, Fludarabine
Fludarabina
Fludarabina [Spanish]
Fludarabine
Fludarabine (INN)
Fludarabine 5'-monophosphate
Fludarabine Phosphate
Fludarabine [INN]
Fludarabine monophosphate
Fludarabine phosphate
Fludarabinum
Fludarabinum [Latin]
Fludura
Fluradosa
Fluradosa (TN)
HSDB 6964
I14-4978
LS-15061
MLS000028687
NSC 118218
NSC 118218H
NSC-118218
Oforta
S1491_Selleck
SAM002548956
SMR000058874
SQ Fludarabine
UNII-1X9VK9O1SC
UNII-P2K93U8740
ZINC04216238
3
Cyclophosphamideapproved, investigationalPhase 2264350-18-0, 6055-19-22907
Synonyms:
(+-)-Cyclophosphamide
(-)-Cyclophosphamide
(RS)-Cyclophosphamide
1-(bis(2-chloroethyl)amino)-1-oxo-2-aza-5-oxaphosphoridine
1-Bis(2-chloroethyl)amino-1-oxo-2-aza-5-oxaphosphoridin
2-[Bis(2-chloroethylamino)]-tetrahydro-2H-1,3,2-oxazaphosphorine-2-oxide
4-Hydroxy-cyclophosphan-mamophosphatide
50-18-0
60007-95-6
6055-19-2 (monohydrate)
75526-90-8
AC1L1EQQ
AI3-26198
ASTA
ASTA B518
Asta B 518
B 518
B-518
BRN 0011744
BSPBio_002099
Bis(2-chloroethyl)phosphoramide cyclic propanolamide ester
C 0768
C07888
C7H15Cl2N2O2P
CB 4564
CB-4564
CCRIS 188
CHEBI:4027
CHEMBL32520
CHEMBL88
CID2907
CP
CPA
CTX
CY
Ciclofosfamida
Ciclofosfamida [INN-Spanish]
Ciclofosfamide
Ciclophosphamide
Ciclophosphamide [INN]
Clafen
Claphene
Cycloblastin
Cyclophosphamid
Cyclophosphamide
Cyclophosphamide (INN)
Cyclophosphamide (TN)
Cyclophosphamide (anhydrous form)
Cyclophosphamide (anhydrous)
Cyclophosphamide Monohydrate
Cyclophosphamide Sterile
Cyclophosphamide anhydrous
Cyclophosphamide, (+-)-Isomer
Cyclophosphamides
Cyclophosphamidum
Cyclophosphamidum [INN-Latin]
Cyclophosphan
Cyclophosphane
Cyclophosphanum
Cyclophosphoramide
Cyclostin
Cyklofosfamid
Cyklofosfamid [Czech]
Cytophosphan
Cytophosphane
Cytoxan
Cytoxan (TN)
Cytoxan Lyoph
D,L-Cyclophosphamide
D07760
DB00531
 
DivK1c_000246
EINECS 200-015-4
EU-0100238
Endoxan
Endoxan R
Endoxan-Asta
Endoxana
Endoxanal
Endoxane
Enduxan
Genoxal
HMS2090A12
HSDB 3047
Hexadrin
IDI1_000246
KBio1_000246
KBio2_001338
KBio2_003906
KBio2_006474
KBio3_001319
KBioGR_000888
KBioSS_001338
LS-1302
LS-99787
Ledoxina
Lopac-C-0768
Lopac0_000238
Lyophilized Cytoxan
Mitoxan
MolPort-001-783-420
N,N-Bis(2-chloroethyl)-1,3,2-oxazaphosphinan-2-amine 2-oxide
N,N-Bis(2-chloroethyl)tetrahydro-2H-1,3,2-oxazaphosphorin-2-amine 2-oxide
NCGC00015209-01
NCGC00015209-03
NCGC00015209-06
NCGC00091741-02
NCGC00091741-03
NCI-C04900
NCI60_002097
NINDS_000246
NSC 26271
NSC-26271
NSC26271
NSC273033
NSC273034
Neosar
Occupation, cyclophosphamide exposure
Procytox
RCRA waste no. U058
Rcra Waste Number U058
Rcra waste number U058
Revimmune
S1217_Selleck
SK 20501
SPBio_001071
STK177249
STOCK2S-91217
Semdoxan
Sendoxan
Senduxan
Spectrum2_001146
Spectrum3_000370
Spectrum4_000304
Spectrum5_000795
Spectrum_000858
UNII-6UXW23996M
WLN: T6MPOTJ BO BN2G2G
Zyklophosphamid
Zyklophosphamid [German]
bis(2-Chloroethyl)phosphami de cyclic propanolamide
bis(2-Chloroethyl)phosphamide cyclic propanolamide ester
cyclophosphamide
4Fludarabine phosphatePhase 2105930751
5Yellow DockNutraceuticalPhase 25

Interventional clinical trials:

idNameStatusNCT IDPhase
1Pilot Study of Reduced-Intensity Hematopoietic Stem Cell Transplant of DOCK8 DeficiencyRecruitingNCT01176006Phase 2
2Study of Clinical Features and Genetics of Hyperimmunoglobulin E Recurrent InfectionRecruitingNCT00006150
3Study of Voicing My CHOiCES as a Tool for Advanced Care Planning in Young Adults With CancerRecruitingNCT02108028
4Apheresis of Patients With ImmunodeficiencyRecruitingNCT01212055

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

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

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

id Genetic test Affiliating Genes
1 Autosomal Recessive Hyper Ige Syndrome22 DOCK8

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

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

33
Skin, T cells, B cells, Lung, Bone

Animal Models for Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive or affiliated genes

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Publications for Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive

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Variations for Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive

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

67
id Symbol AA change Variation ID SNP ID
1DOCK8p.Lys473ArgVAR_063753

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1NC_000009.11: g.204193_343954del139762deletionPathogenicGRCh37Chr 9, 204193: 343954
2DOCK8NM_203447.3(DOCK8): c.6019dupT (p.Tyr2007Leufs)duplicationPathogenicrs869312169GRCh37Chr 9, 452068: 452068
3DOCK8DOCK8, 1-BP DEL, 3290CdeletionPathogenic
4DOCK8DOCK8, 8-BP INS, NT3303insertionPathogenic
5DOCK8NM_203447.3(DOCK8): c.1418A> G (p.Lys473Arg)single nucleotide variantPathogenicrs112321280GRCh37Chr 9, 336714: 336714
6DOCK8NM_203447.3(DOCK8): c.1126-395_2971-2751deldeletionPathogenicGRCh37Chr 9, 333830: 394034
7DOCK8NG_017007.1: g.101870_188275del86406deletionPathogenicGRCh37Chr 9, 311734: 398139

Expression for genes affiliated with Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive

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

Pathways for genes affiliated with Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive

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

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Sources for Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet