MCID: HYP373
MIFTS: 33

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

About this section

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

Name: Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive 51 12
Hyperimmunoglobulin E Recurrent Infection Syndrome, Autosomal Recessive 47 25 69 26
Ar-Hies 47 25 69
Combined Immunodeficiency Due to Dock8 Deficiency 25 53
Autosomal Recessive Hyper Ige Syndrome 47 24
Hyperimmunoglobulin E Syndrome Type 2 25 69
Dock8 Immunodeficiency Syndrome 25 53
Cid Due to Dock8 Deficiency 25 53
Autosomal Recessive Hies 24 25
Hies Autosomal Recessive 47 69
Dock8 Deficiency 47 25
Combined Immunodeficiency Due to Dedicator of Cytokinesis 8 Protein Deficiency 53
 
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 69
Hyper Immunoglobulin E Syndrome, Autosomal Recessive 25
Hyper-Immunoglobulin E Syndrome, Autosomal Recessive 67
Hyper Ig E Syndrome, Autosomal Recessive 47
Autosomal Recessive Hyper-Ige Syndrome 25
Hyper-Ige Syndrome Autosomal Recessive 69
Ar Hyperimmunoglobulin E Syndrome 47
Non-Skeletal Hyper-Ige Syndrome 25
Nonskeletal Hyper Ige Syndrome 69

Characteristics:

Orphanet epidemiological data:

53
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:

63
hyper-ige recurrent infection syndrome, autosomal recessive:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset

Classifications:



External Ids:

OMIM51 243700
Orphanet53 ORPHA217390
ICD10 via Orphanet30 D81.1
MedGen36 C1968689
MeSH38 D007589

Summaries for Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive

About this section
NIH Rare Diseases:47 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 sinusitis, otitis media and eczema. 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: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:51 Autosomal dominant hyper-IgE recurrent infection syndrome (147060) is a primary immunodeficiency disorder characterized... (243700) more...

UniProtKB/Swiss-Prot:69 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

About this section

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:

idRelated DiseaseScoreTop Affiliating Genes
1immunodeficiency 3511.3
2hyper ige syndrome10.3
3hematopoietic stem cell transplantation9.9
4molluscum contagiosum9.9

Symptoms for Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive

About this section

Symptoms by clinical synopsis from OMIM:

243700

Clinical features from OMIM:

243700

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

 63 53 (show all 31)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sinusitis63 hallmark (90%) HP:0000246
2 otitis media63 hallmark (90%) HP:0000388
3 eczema63 hallmark (90%) HP:0000964
4 asthma63 53 hallmark (90%) Very frequent (99-80%) HP:0002099
5 decreased antibody level in blood63 hallmark (90%) HP:0004313
6 cellular immunodeficiency63 hallmark (90%) HP:0005374
7 skin ulcer63 53 hallmark (90%) Very frequent (99-80%) HP:0200042
8 verrucae63 53 hallmark (90%) Very frequent (99-80%) HP:0200043
9 atopic dermatitis63 53 Very frequent (99-80%) HP:0001047
10 eosinophilia63 HP:0001880
11 subarachnoid hemorrhage63 HP:0002138
12 hemiplegia63 HP:0002301
13 neoplasm63 HP:0002664
14 recurrent bacterial infections63 HP:0002718
15 recurrent fungal infections63 HP:0002841
16 recurrent viral infections63 53 Very frequent (99-80%) HP:0004429
17 cerebral vasculitis63 HP:0005318
18 recurrent sinopulmonary infections63 HP:0005425
19 chronic otitis media53 Very frequent (99-80%)
20 pneumonia53 Very frequent (99-80%)
21 recurrent respiratory infections53 Very frequent (99-80%)
22 squamous cell carcinoma53 Occasional (29-5%)
23 increased ige level53 Very frequent (99-80%)
24 severe viral infections53 Very frequent (99-80%)
25 recurrent candida infections53 Very frequent (99-80%)
26 t lymphocytopenia53 Very frequent (99-80%)
27 recurrent bacterial skin infections53 Very frequent (99-80%)
28 anal canal squamous carcinoma53 Occasional (29-5%)
29 b lymphocytopenia53 Very frequent (99-80%)
30 recurrent sinusitis53 Very frequent (99-80%)
31 onychomycosis53 Very frequent (99-80%)

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

About this section

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

(show all 8)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
FludarabineapprovedPhase 2111321679-14-1, 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-ARAA
2-F-ara-A
2-Fluoro Ara-A
2-Fluoro-9-beta-D-arabinofuranosyladenine
2-fluoro ARA-A
21679-14-1
9-beta-D-Arabinofuranosyl-2-fluoroadenine
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 [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
S1491_Selleck
SAM002548956
SMR000058874
SQ Fludarabine
UNII-1X9VK9O1SC
UNII-P2K93U8740
ZINC04216238
2
Cyclophosphamideapproved, investigationalPhase 2282950-18-0, 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
Anhydrous cyclophosphamide
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
3
Busulfanapproved, investigationalPhase 254055-98-12478
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)
4Immunosuppressive AgentsPhase 212770
5Alkylating AgentsPhase 24694
6Antineoplastic Agents, AlkylatingPhase 24474
7Antirheumatic AgentsPhase 210627
8Yellow DockNutraceuticalPhase 25

Interventional clinical trials:

idNameStatusNCT IDPhase
1Pilot Study of Reduced-Intensity Hematopoietic Stem Cell Transplant of DOCK8 DeficiencyRecruitingNCT01176006Phase 2
2Apheresis of Patients With ImmunodeficiencyRecruitingNCT01212055
3Study of Voicing My CHOiCES as a Tool for Advanced Care Planning in Young Adults With CancerRecruitingNCT02108028

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

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

About this section

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

id Genetic test Affiliating Genes
1 Hyperimmunoglobulin E Recurrent Infection Syndrome, Autosomal Recessive26
2 Autosomal Recessive Hyper Ige Syndrome24 DOCK8

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

About this section

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

35
Skin, T cells, B cells

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

About this section

Publications for Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive

About this section

Variations for Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive

About this section

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

69
id Symbol AA change Variation ID SNP ID
1DOCK8p.Lys473ArgVAR_063753rs112321280

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1DOCK8NC_000009.11: g.204193_343954del139762deletionPathogenicGRCh37Chr 9, 204193: 343954
2DOCK8NM_203447.3(DOCK8): c.6019dupT (p.Tyr2007Leufs)duplicationPathogenicrs869312169GRCh37Chr 9, 452068: 452068
3DOCK8NM_203447.3(DOCK8): c.3494delC (p.Thr1165Lysfs)deletionPathogenicrs113944762GRCh38Chr 9, 407033: 407033
4DOCK8NM_203447.3(DOCK8): c.3504_3505insTGGCTGCT (p.Ala1169Trpfs)insertionPathogenicrs886037645GRCh38Chr 9, 407043: 407044
5DOCK8NM_203447.3(DOCK8): c.1418A> G (p.Lys473Arg)SNVPathogenicrs112321280GRCh37Chr 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

About this section
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

About this section

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

About this section

Sources for Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet