Aliases & Classifications for Hyper Ige Syndrome

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Sources:
45NIH Rare Diseases, 65UMLS, 47Novoseek
See all sources

Aliases & Descriptions for Hyper Ige Syndrome:

Name: Hyper Ige Syndrome 45
Hyper-Ige Recurrent Infection Syndrome 45
Hyperimmunoglobulin E Syndrome 45
 
Hyper-Ige Syndrome 47
Job Syndrome 65
Hies 45


Classifications:



Summaries for Hyper Ige Syndrome

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NIH Rare Diseases:45 Hyper ige syndromes (hies) are rare primary immune deficiencies characterized by elevated serum ige, skin inflammation (dermatitis) and recurrent skin and lung infections. there are two forms of hies, which have the above characteristics in common but otherwise have distinct presentations, courses and outcomes: autosomal dominant hies (ad-hies) and autosomal recessive hies (ar-hies). click on the embedded links to learn more about autosomal dominant hies (or job syndrome) and autosomal recessive hies. last updated: 7/14/2015

MalaCards based summary: Hyper Ige Syndrome, also known as hyper-ige recurrent infection syndrome, is related to hyper-ige recurrent infection syndrome, autosomal recessive and tuberculosis. An important gene associated with Hyper Ige Syndrome is STAT3 (Signal Transducer And Activator Of Transcription 3 (Acute-Phase Response Factor)), and among its related pathways are IL12 signaling mediated by STAT4 and Cytokines and Inflammatory Response. Affiliated tissues include skin, lung and t cells, and related mouse phenotypes are adipose tissue and liver/biliary system.

Related Diseases for Hyper Ige Syndrome

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Diseases related to Hyper Ige Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 488)
idRelated DiseaseScoreTop Affiliating Genes
1hyper-ige recurrent infection syndrome, autosomal recessive31.7DOCK8, TYK2
2tuberculosis30.0IFNG, IL4, TLR2
3scleroderma30.0IFNG, IL4
4bubonic plague29.7IFNG, IL4, TLR4
5aspergillosis29.6IFNG, IL4, TLR2, TLR4
6leiomyoma29.4TLR2, TLR4
7malaria29.1IFNG, IL4, TLR2, TLR4
8rheumatoid arthritis28.9IFNG, IL4, TLR2, TLR4, TYK2
9hyper-ige recurrent infection syndrome10.9
10dermatitis10.7
11atopic dermatitis10.6
12pneumonia10.5
13autosomal recessive hyper-ige syndrome due to tyk2 deficiency10.5
14hematopoietic stem cell transplantation10.4
15molluscum contagiosum10.4
16aneurysm10.4
17necrotizing fasciitis10.3
18fasciitis10.3
19his bundle tachycardia10.3
20coronary artery aneurysm10.3
21systemic lupus erythematosus10.3
22b-cell lymphomas10.3
23chronic granulomatous disease10.3
24diffuse large b-cell lymphoma10.3
25lupus erythematosus10.3
26t cell deficiency10.3
27right bundle branch block10.3
28dysfibrinogenemia10.3
29neurodermatitis10.3DOCK8, STAT3
30thalassemia10.3
31hyperinsulinism10.3
32epithelioid cell melanoma10.2IGHE, IL4
33osteochondritis dissecans10.2
34pleuropneumonia10.2
35nocardiosis10.2
36pseudotumor cerebri10.2
37bullous pemphigoid10.2
38folliculitis10.2
39calcinosis10.2
40dermatomyositis10.2
41diarrhea10.2
42histoplasmosis10.2
43neonatal diabetes mellitus10.2
44eosinophilic pustular folliculitis10.2
45gianotti crosti syndrome10.2
46myocardial infarction10.2
47prostatitis10.2
48craniofacioskeletal syndrome10.2IGHE, IL4
49stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features10.2IFNG, IGHE
50hiv-110.2

Graphical network of the top 20 diseases related to Hyper Ige Syndrome:



Diseases related to hyper ige syndrome

Symptoms for Hyper Ige Syndrome

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Drugs & Therapeutics for Hyper Ige Syndrome

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Drugs for Hyper Ige Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Miconazoleapproved, investigationalPhase 3291222916-47-84189
Synonyms:
(+-)-1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl) imidazole
1-[2,4-Dichloro- beta-([2,4-dichloro- benzyl]oxy)phenethyl]imidazole
1-[2-(2,4-Dichloro-benzyloxy)-2-(2,4-dichloro-phenyl)-ethyl]-1H-imidazole
1-[2-(2,4-Dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]-1H-imidazole
1-[2-(2,4-dichlorobenzyloxy)-2-(2,4-dichlorophenyl)ethyl]-1H-imidazole
1-[2-(2,4-dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]imidazole
1-[2-(2,4-dichlorophenyl)-2-{[(2,4-dichlorophenyl)methyl]oxy}ethyl]-1H-imidazole
1-{2-[(2,4-dichlorobenzyl)oxy]-2-(2,4-dichlorophenyl)ethyl}-1H-imidazole
22832-87-7 (NITRATE)
22916-47-8
75319-47-0
AB00053500
AC1L1HM1
AKOS001574474
Aflorix(nitrate)
Albistat(nitrate)
Andergin(nitrate)
BPBio1_000279
BRD-A82396632-001-03-0
BRD-A82396632-008-02-7
BRN 0965511
BSPBio_000253
BSPBio_002033
CCRIS 7924
CHEBI:6923
CHEMBL91
CID4189
CPD-4501
Conofite(nitrate)
D00416
DB01110
Dactarin
Daktarin IV
Daktarin iv
Desenex
DivK1c_000156
EINECS 245-324-5
Epi-Monistat(nitrate)
Femizol-M
Florid(nitrate)
Gyno-Daktar(nitrate)
HMS1568M15
HMS2090B21
I14-14342
IDI1_000156
Imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl)methoxy)ethyl)- (9CI)
KBio1_000156
KBio2_001445
KBio2_004013
KBio2_006581
KBio3_001533
KBioGR_000581
KBioSS_001445
LS-78378
Lotrimin AF(nitrate)
MCZ
MJR 1762
MLS002222203
Makesense
Micantin (nitrate)
Micatin
 
Miconasil Nitrate
Miconazol
Miconazol [INN-Spanish]
Miconazole
Miconazole (JP15/USP/INN)
Miconazole 3
Miconazole 3 Combination Pack
Miconazole 7 Combination Pack
Miconazole [USAN:BAN:INN:JAN]
Miconazole nitrate salt
Miconazole-7
Miconazolo
Miconazolo [DCIT]
Miconazolum
Miconazolum [INN-Latin]
Micozole
Minostate
MolPort-002-557-553
Monazole 7
Monista (nitrate)
Monistat
Monistat (TN)
Monistat 1 Combination Pack
Monistat 3 Dual-Pak
Monistat 3 Vaginal Ovules
Monistat 5 Tampon
Monistat 7 Dual-Pak
Monistat 7 Vaginal Suppositories
Monistat Dual- PAK
Monistat IV
Monistat iv (TN)
Monistat iv (tn)
Monistat-Derm
NCI60_001353
NCI60_001380
NINDS_000156
NSC 170986
NSC169434
NSC170986
Novo-Miconazole Vaginal Ovules
Oprea1_091955
Oravig
Prestwick0_000067
Prestwick1_000067
Prestwick2_000067
Prestwick3_000067
Prestwick_335
R 18134
R-14,889
Rash Relief Antifungal
SMR001307249
SPBio_000976
SPBio_002174
STK834405
STOCK1S-93556
Spectrum2_001048
Spectrum3_000507
Spectrum4_000061
Spectrum5_001297
Spectrum_000965
UNII-7NNO0D7S5M
Vusion
Zimycan
imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl) methoxy)ethyl)- (9CI)
miconazole
2
Posaconazoleapproved, investigationalPhase 348171228-49-2147912
Synonyms:
1-((1S,2S)-1-Ethyl-2-hydroxypropyl)-4-{4-[4-(4-{[(5S,3R)-5-(2,4-difluorophenyl)-5-(1,2,4-triazolylmethyl)oxolan-3-yl]methoxy}phenyl)piperazinyl]phenyl}-1,2,4-triazolin-5-one
171228-49-2
177571-33-4
4-(p-(4-(p-(((3R,5R)-5-(2,4-Difluorophenyl)tetrahydro-5-(1H-1,2,4-triazol-1-ylmethyl)-3-furyl)methoxy)phenyl)-1-piperazinyl)phenyl)-1-((1S,2S)-1-ethyl-2-hydroxypropyl)-delta(sup 2)-1,2,4-triazolin-5-one
4-[4-[4-[4-[[(3R,5R)-5-(2,4-difluorophenyl)-5-(1,2,4-triazol-1-ylmethyl)oxolan-3-yl]methoxy]phenyl]piperazin-1-yl]phenyl]-2-[(2S,3S)-2-hydroxypentan-3-yl]-1,2,4-triazol-3-one
4-[4-[4-[4-[[(5R)-5-(2,4-difluorophenyl)-5-(1,2,4-triazol-1-ylmethyl)oxolan-3-yl]methoxy]phenyl]piperazin-1-yl]phenyl]-2-[(2S,3S)-2-hydroxypentan-3-yl]-1,2,4-triazol-3-one
AC-1350
AC1L3W34
AC1LAHLQ
AKOS005145917
CHEBI:434337
CHEMBL1397
CHEMBL371938
CHEMBL371939
CID10532764
CID11520437
CID11542142
CID147912
CID468595
D02555
DB01263
 
HSDB 7421
LS-186118
LS-186988
LS-187630
MolPort-006-666-426
Noxafil
Noxafil (TN)
Noxafil, Posaconazole
Posaconazole
Posaconazole (USAN/INN)
Posaconazole SP
Posaconazole [USAN:INN:BAN]
Posaconazole in combination with MGCD290
Posanol
S1257_Selleck
SCH-56592
SCH56592
SID144207169
Sch 56592
Spriafil
UNII-6TK1G07BHZ
X2N
posaconazole
3
RanitidineapprovedPhase 26966357-59-3, 66357-35-53001055
Synonyms:
(E)-1-N'-[2-[[5-(dimethylaminomethyl)furan-2-yl]methylsulfanyl]ethyl]-1-N-methyl-2-nitroethene-1,1-diamine
(E)-N-{2-[({5-[(dimethylamino)methyl]-2-furyl}methyl)sulfanyl]ethyl}-N'-methyl-2-nitroethene-1,1-diamine
(E)-N-{2-[({5-[(dimethylamino)methyl]furan-2-yl}methyl)sulfanyl]ethyl}-N'-methyl-2-nitroethene-1,1-diamine
66357-35-5
66357-59-3 (hydrochloride)
68109-63-7
7 Select Acid Reducer
AC-12712
AC1MHDJB
AC1Q1WQX
AR-1B4779
Achedos
Acid Reducer
Acid Reducer 150
Acid Reducer Maximum Strength
Acid Reducer Regular Strength
Acid Reducer maximum strength
Acid Relief
Acidex
Alquen
Atural
Axoban
BIDD:GT0179
Being Well Heartburn Relief
Being Well Heartburn Relief acid reducer
Biotidin
C13H22N4O3S
CAS-66357-59-3
CHEBI:8776
CHEMBL512
CID3001055
Care One Acid Reducer
Careone Acid Reducer
Cool Mint Acid Reducer
Coralen
Curan
D00422
DB00863
Dg Health Acid Reducer
Dg Health Acid Reducer Maximum Strength
Duractin
EINECS 266-332-5
Equaline Heartburn Relief
Equate Acid Reducer
Equate Ranitidine
Equate Ranitidine Acid Reducer
Exchange Select Acid Reducer
Ezopta
Family Wellness Acid Reducer
Fendibina
Formu Care Ranitidine
Formucare Ranitidine
Gastrial
Gastridina
Gastrolav
Gastrosedol
Good Neighbor Pharmacy Acid Control
Good Neighbor Pharmacy Acid Control 150
Good Neighbor Pharmacy Acid Control 150 Maximum Strength
Good Sense Acid Reducer
HMS1921L07
HMS2092H15
HMS501F22
HSDB 3925
Health Mart Acid Reducer
Healthy Accents Ranitidine
Heartburn Relief
Heartburn Relief Acid Reducer
I09-0405
IDI1_000440
Istomar
KST-1B7387
Kirkland Signature Acid Reducer
Kuracid
L000504
LS-67645
Leader Acid Control
Leader Acid Control Acid Reducer
Leader Acid Control Maximum Strength
Logast
Lopac-R-101
Lopac0_001073
Major Ranitidine Maximum Strength
Mauran
Maximum Strength
Maximum Strength Acid Reducer
Maximum Strength Heartburn Relief
Maximum Strength Heartburn Relief 150
Maximum Strength Ranitidine
Maximum Strength Zantac
Melfax
Microtid
MolPort-003-666-370
N (2-(((5-((Dimethylamino)methyl)-2-furanyl)methyl)thio)ethyl)-N'-methyl-2-nitro-1,1-ethenediamine
N-(2-((5-((Dimethylamino)methyl)furfuryl)thio)ethyl)-N'-methyl-2-nitro-1,1-ethenediamine
NCGC00015876-01
NCGC00015876-02
NCGC00015876-08
 
NCGC00018108-01
NCGC00024387-02
NCGC00094913-01
NCGC00094913-02
NCGC00094913-03
NCGC00094913-04
NCGC00094913-05
Noctone
Non-prescription Strength Acid Reducer
Nu-Ranit
Prestwick2_000201
Ptinolin
Quantor
Quicran
RAN
RND
Radinat
Randin
Rani-Q
Rani-nerton
Raniben
Raniberl
Ranibloc
Ranidine
Ranifur
Ranin
Raniogas
Raniplex
Ranisen
Raniter
Ranitidin
Ranitidina
Ranitidina [INN-Spanish]
Ranitidine
Ranitidine (Form I And Form Ii)
Ranitidine (TN)
Ranitidine (USAN/INN)
Ranitidine 75
Ranitidine Acid Reducer
Ranitidine Base
Ranitidine HCL
Ranitidine HCL 1/2 Type
Ranitidine Hydrochloride
Ranitidine [USAN:BAN:INN]
Ranitidinum
Ranitidinum [INN-Latin]
Ranitiget
Ranitin
Rantacid
Rantidine
Rantidine HCL
Ratic
Raticina
Regular Strength Acid Reducer
Rexall Heartburn Relief
Rx Act Heartburn Relief
SPECTRUM1501151
ST050299
STK619092
Sampep
Shoprite Acid Reducer
Shoprite Acid Reducer Maximum Strength
Smart Sense Acid Reducer
Smart Sense Ranitidine
Sostril
Spectrum5_001189
Sunmark Acid Reducer
Sunmark Acid Reducer Maximum Strength
Taural
Terposen
Tocris-1967
Topcare Heartburn Relief
Topcare Heartburn Relief 150
UNII-884KT10YB7
Ul-Pep
Ulceranin
Ulcex
Ultidine
Urantac
Verlost
Vesyca
Vizerul
Wal Zan 150
Wal Zan 75
Wal Zan Acid Reducer maximum strength
Wal-zan
Weichilin
Weidos
Xanidine
ZANTAC
Zantab
Zantac
Zantac (TN)
Zantac 150 Acid Reducer
Zantac 75
Zantac Maximum Strength 150 Cool Mint
Zantadin
Zantic
ranitidine
4
Histamine PhosphateapprovedPhase 285251-74-165513
Synonyms:
1H-Imidazole-4-ethanamine, phosphate (1:2)
2-Imidazol-4-ylethylamine orthophosphoric acid (1:2)
4-(2-Aminoethyl)imidazole bis(dihydrogen phosphate)
4-(2-Aminoethyl)imidazole di-acid phosphate
4-2(2-Aminoethyl)Imidazole-Di-Acid Phosphate
51-74-1
53623-99-7
74-56-6
AC1L23E4
CID65513
D04445
DB00667
EINECS 200-118-4
 
H0147
Histamine Positive Skin Test Control
Histamine Positive skin test control
Histamine acid phosphate
Histamine biphosphate
Histamine dihydrogen phosphate
Histamine diphosphate
Histamine phosphate (1:2)
Histamine phosphate (TN)
Histamine phosphate (USP)
Histamine phosphate [USP]
Histamine positive
Histaminum
LS-78569
UNII-QWB37T4WZZ
5Ranitidine bismuth citratePhase 269
6
histaminePhase 285275614-87-8, 51-45-6774
Synonyms:
.beta.-Imidazolyl-4-ethylamine
1H-Imidazole-4-ethanamine
1H-Imidazole-5-ethanamine
1avn
1qft
2-(1H-Imidazol-4-yl)ethanamine
2-(1H-Imidazol-4-yl)ethylamine
2-(1H-Imidazol-5-yl)ethanamine
2-(1H-Imidazol-5-yl)ethylamine
2-(1H-imidazol-4-yl)ethan-1-amine
2-(1H-imidazol-5-yl)ethanamine
2-(3H-Imidazol-4-yl)-ethylamine
2-(4-Imidazolyl)ethanamine
2-(4-Imidazolyl)ethylamine
2-Imidazol-4-yl-Ethylamine
2-Imidazol-4-ylethylamine
2-[4-Imidazolyl]ethylamine
4-(2-Aminoethyl)-1H-imidazole
4-(2-Aminoethyl)imidazole
4-Imidazoleethylamine
5-Imidazoleethylamine
51-45-6
53290_FLUKA
64422-25-9
924364-91-0
AC-13185
AC1L19ZT
AC1Q54BV
AC1Q54BW
AKOS000274386
ALBB-005968
BCBcMAP01_000250
BSPBio_001117
BSPBio_002124
Bio1_000487
Bio1_000976
Bio1_001465
Bio2_000389
Bio2_000869
C00388
CCRIS 6535
CHEBI:18295
CHEMBL90
CID774
D08040
DivK1c_000308
EINECS 200-100-6
Eramin
Ergamine
Ergotidine
F411C768-A159-4FC0-A195-291A08BB03AA
Free histamine
H7125_SIGMA
HMS1362G19
HMS1792G19
HMS1990G19
HSDB 3338
HSM
Histamine
Histamine (DCF)
Histamine Base
Histamine [USAN]
Histamine, Free Base
Histaminum
 
Histaminum (TN)
IDI1_000308
IDI1_002144
Imidazole-4-ethylamine
Istamina
Istamina [Italian]
KBio1_000308
KBio2_000457
KBio2_001325
KBio2_003025
KBio2_003893
KBio2_005593
KBio2_006461
KBio3_000853
KBio3_000854
KBio3_001344
KBioGR_000457
KBioGR_001580
KBioSS_000457
KBioSS_001325
L-Histamin base
L-Histamine
L-histamine
L000292
LS-75835
Lopac-H-7250
Lopac0_000595
MLS000069447
MolPort-001-785-597
MolPort-002-042-264
NCGC00015513-01
NCGC00015513-08
NCGC00093371-02
NCGC00093371-03
NCGC00093371-04
NCGC00093371-05
NINDS_000308
NSC 33792
NSC33792
SDCCGMLS-0066601.P001
SMP1_000151
SMR000059091
SPBio_000729
ST073926
STK346752
STOCK5S-55669
Spectrum2_000665
Spectrum3_000452
Spectrum4_000960
Spectrum5_000796
Spectrum_000845
Theramine
UNII-820484N8I3
WLN: T5M CNJ D2Z
ZERO/004089
[3H]histamine
b-Imidazolyl-4-ethylamine
beta-Aminoethylglyoxaline
beta-Aminoethylimidazole
beta-Aminothethylglyoxaline
beta-Imidazolyl-4-ethylamine
beta-aminothethylglyoxaline
bmse000744
histamine
nchembio.87-comp54
nchembio714-comp1
7Bismuth tripotassium dicitratePhase 252
8
BismuthPhase 2967440-69-916682734, 105143
Synonyms:
17034_FLUKA
24267-48-9
25243-76-9
264008_ALDRICH
265462_ALDRICH
265470_ALDRICH
452386_ALDRICH
556130_ALDRICH
7440-69-9
83Bi
95372_ALDRICH
95372_FLUKA
95375_FLUKA
AC1NSDYX
AC1O4PN8
AR-1I0647
BISMUTH, 99.95%
 
BISMUTH, 99.999%
Bi
Bismut
Bismuth standard for AAS
Bismuth standard for ICP
Bismuth(III) nitrate solution
Bismuth, elemental
Bismuth-209
C15471
CHEBI:33301
CID5359367
EINECS 231-177-4
HSDB 2078
LS-44708
LTBB002773
MolPort-003-925-759
Wismut
bismuth
bismuto
9
Citric AcidnutraceuticalPhase 278477-92-9311
Synonyms:
2-Hydroxy-1,2,3-propanetricarboxylate
2-Hydroxy-1,2,3-propanetricarboxylic acid
2-Hydroxytricarballylic acid
3-Carboxy-3-hydroxypentane-1,5-dioate
3-Carboxy-3-hydroxypentane-1,5-dioic acid
Aciletten
Anhydrous citrate
Anhydrous citric acid
Chemfill
Citraclean
 
Citrate
Citretten
Citric acid
Citro
Citronensäure
E 330
Hydrocerol A
Kyselina citronova
Suby G
Uro-trainer
beta-Hydroxytricarballylate
beta-Hydroxytricarballylic acid
10CitrateNutraceuticalPhase 2784
11
Omalizumabapproved, investigationalPhase 1133242138-07-4
Synonyms:
242138-07-4
D05251
Ig gamma-1 chain C region
Omalizumab
 
Omalizumab (USAN/INN)
Omalizumab (genetical recombination)
Omalizumab (genetical recombination) (JAN)
Xolair
Xolair (TN)
12Pulmonary Surfactants99
13Coagulase10
14Yellow DockNutraceutical4

Interventional clinical trials:

(show all 16)
idNameStatusNCT IDPhase
1Posaconazole to Treat Invasive Fungal InfectionsCompletedNCT00033982Phase 3
2Sequential Cadaveric Lung and Bone Marrow Transplant for Immune Deficiency DiseasesRecruitingNCT01852370Phase 1, Phase 2
3Effect of Ranitidine on Hyper-IgE Recurrent Infection (Job's) SyndromeTerminatedNCT00527878Phase 2
4Omalizumab to Treat Hyper-IgE (Job's) SyndromeCompletedNCT00260702Phase 1
5Diagnostic Effectiveness of Virtual BronchoscopyCompletedNCT00001515Phase 1
6Learning and Behavior Problems in Children With Chronic Granulomatous Disease and Related DisordersCompletedNCT00005933
7Role of Endotracheal Suction on the Occurrence of Meconium Aspiration Syndrome in Non-vigorous Meconium Stained BabiesCompletedNCT01758822
8Study of Clinical Features and Genetics of Hyperimmunoglobulin E Recurrent InfectionRecruitingNCT00006150
9Study of Mycobacterial InfectionsRecruitingNCT00018044
10Detection and Characterization of Infections and Infection SusceptibilityRecruitingNCT00404560
11Collection of Lung Fluid and Tissue Samples for ResearchRecruitingNCT00471250
12Human Immunity Against Staphylococcus Aureus Skin InfectionRecruitingNCT02262819
13Studies of Skin Microbes in Healthy People and in People With Skin ConditionsRecruitingNCT00605878
14Role and Molecular Mechanism of Farnesoid X Receptor(FXR) and RIPK3 in the Formation of Acute Respiratory Distress Syndrome in NeonatesRecruitingNCT02598648
15Genetic Analysis of Immune DisordersEnrolling by invitationNCT00001467
16NFIL3-induced Pathological Enhancement of IgE Class Switch Recombination in Hyper-IgE SyndromeNot yet recruitingNCT02228941

Search NIH Clinical Center for Hyper Ige Syndrome

Genetic Tests for Hyper Ige Syndrome

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Anatomical Context for Hyper Ige Syndrome

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MalaCards organs/tissues related to Hyper Ige Syndrome:

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

Animal Models for Hyper Ige Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Hyper Ige Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.5STAT3, TLR2, TLR4, TYK2
2MP:00053708.2IFNG, IL4, STAT3, TLR2, TLR4
3MP:00053798.1IFNG, IL4, PGM3, STAT3, TLR2
4MP:00053888.0IFNG, IL4, STAT3, TLR2, TLR4
5MP:00053817.9IFNG, IL4, PGM3, STAT3, TLR2, TLR4
6MP:00053677.8IFNG, IL4, PGM3, STAT3, TLR2, TLR4
7MP:00053907.7IFNG, IL4, STAT3, TLR2, TLR4, TYK2
8MP:00053766.8IFNG, IGHE, IL4, STAT3, TLR2, TLR4
9MP:00053876.0DOCK8, IFNG, IGHE, IL4, PGM3, STAT3
10MP:00053975.8DOCK8, IFNG, IGHE, IL4, PGM3, STAT3

Publications for Hyper Ige Syndrome

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Articles related to Hyper Ige Syndrome:

(show top 50)    (show all 223)
idTitleAuthorsYear
1
Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome. (26304966)
2015
2
An 8 minute colorimetric paper-based reverse phase vertical flow serum microarray for screening of hyper IgE syndrome. (26365343)
2015
3
Giant Herpes Labialis in a Child with DOCK8-deficient Hyper-IgE Syndrome. (26148752)
2015
4
Quantitative defects in invariant NKT cells and TLR responses in patients with hyper-IgE syndrome. (25796310)
2015
5
A case of exuberant candidal onychomycosis in a child with hyper IgE syndrome. (24565777)
2014
6
Acute disseminated encephalomyelitis: an uncommon presentation of hyper IgE syndrome. (25518794)
2014
7
Reduced bone density in patients with autosomal dominant hyper-IgE syndrome. (23606327)
2013
8
STAT3 and the Hyper-IgE syndrome: Clinical presentation, genetic origin, pathogenesis, novel findings and remaining uncertainties. (24058807)
2013
9
Gross generalized molluscum contagiosum in a patient with autosomal recessive hyper-IgE syndrome, which resolved spontaneously after haematopoietic stem-cell transplantation. (23020750)
2013
10
Renal abscess in hyper-IgE syndrome. (23374820)
2013
11
Clinical features, STAT3 gene mutations and Th17 cell analysis in nine children with hyper-IgE syndrome in mainland China. (23659370)
2013
12
Signal transducer and activator of transcription 3 (STAT3) mutations underlying autosomal dominant hyper-IgE syndrome impair human CD8(+) T-cell memory formation and function. (23830147)
2013
13
Heterozygous signal transducer and activator of transcription 3 mutations in hyper-IgE syndrome result in altered B-cell maturation. (22030463)
2012
14
Ruptured thoracoabdominal aneurysm in a 27-year-old with hyper IgE syndrome. (22047831)
2012
15
Molecular mechanisms of the immunological abnormalities in hyper-IgE syndrome. (22236428)
2011
16
New mechanism of oral immunity to mucosal candidiasis in hyper-IgE syndrome. (21346738)
2011
17
Deficient T Cell Receptor Excision Circles (TRECs) in autosomal recessive hyper IgE syndrome caused by DOCK8 mutation: implications for pathogenesis and potential detection by newborn screening. (21763205)
2011
18
Pneumocystis jirovecii pneumonia in a baby with hyper-IgE syndrome. (19308447)
2010
19
Clinical manifestations of hyper IgE syndromes. (21178271)
2010
20
Diagnostic approach to the hyper-IgE syndromes: immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis. (20816194)
2010
21
Hyper-IgE syndrome with STAT3 mutation: a case report in Mainland China. (20490271)
2010
22
Invasive fungal disease in autosomal-dominant hyper-IgE syndrome. (20392475)
2010
23
Hyper-IgE syndrome. (19717292)
2009
24
Hyper IgE syndrome: an update on clinical aspects and the role of signal transducer and activator of transcription 3. (18978467)
2008
25
Unusual psoriasiform lesions in a patient with Hyper-IgE syndrome. (17309489)
2007
26
Causes of death in hyper-IgE syndrome. (17335882)
2007
27
STAT3 mutations in the hyper-IgE syndrome. (17881745)
2007
28
The hyper IgE syndrome and mutations in TYK2. (17521577)
2007
29
The clinical and laboratory survey of Iranian patients with hyper-IgE syndrome. (17008235)
2006
30
Hyper-IgE syndrome and autoimmunity in Mexican children. (16791602)
2006
31
Giant chalazia in the hyperimmunoglobulinemia E (hyper-IgE) syndrome. (15206652)
2004
32
Cytokine imbalance in hyper-IgE syndrome: reduced expression of transforming growth factor beta and interferon gamma genes in circulating activated T cells. (12694256)
2003
33
A patient with hyper-IgE syndrome: a multisystem disorder. (12399747)
2002
34
Increased expression of interleukin-13 but not interleukin-4 in CD4+ cells from patients with the hyper-IgE syndrome. (12067309)
2002
35
Saethre-Chotzen syndrome and hyper IgE syndrome in a patient with a novel 11 bp deletion of the TWIST gene. (11746028)
2001
36
Discordance for systemic lupus erythematosus and hyper IgE syndrome in a pair of monozygotic twins. (9714373)
1998
37
Previously undiagnosed hyper-IgE syndrome in an adult with multiple systemic fungal infections. (8977516)
1996
38
Co-existence of Dubowitz and hyper-IgE syndromes: a case report. (8741037)
1996
39
Hyper IgE syndrome induced by HIV infection. (7909476)
1993
40
Atypical antiglomerular basement membrane disease associated with defective leukocyte phagocytosis and hyper-IgE syndrome. (8381945)
1993
41
Perforation of the nasal wall and hyper-IgE syndrome. (8281356)
1993
42
Hyper-IgE syndrome: a case report. (2135680)
1990
43
Alpha-interferon treatment of patient with hyper IgE syndrome. (2567391)
1989
44
Hyper-IgE syndrome and H2-receptor blockade. (2570328)
1989
45
Remission of hyper-IgE syndrome treated with plasmapheresis and cytotoxic immunosuppression. (3391990)
1988
46
Hyper IgE syndrome: four case report. (6549138)
1984
47
Serum IgE and IgG antibodies to tetanus toxoid and candidin in immunodeficient children with the hyper-IgE syndrome. (6602146)
1983
48
Neutrophil and T lymphocyte characteristics of two patients with hyper-IgE syndrome. (6195589)
1983
49
Combined neutrophil and T-cell deficiency: initial report of a kindred with features of the hyper-IgE syndrome and chronic granulomatous disease. (6979928)
1982
50
The hyper IgE syndrome: clinical and therapeutic aspects. (539529)
1979

Variations for Hyper Ige Syndrome

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Clinvar genetic disease variations for Hyper Ige Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1PGM3NM_015599.2(PGM3): c.248T> C (p.Leu83Ser)single nucleotide variantPathogenicrs267608260GRCh37Chr 6, 83898474: 83898474
2PGM3NM_015599.2(PGM3): c.1504G> T (p.Asp502Tyr)single nucleotide variantPathogenicrs267608261GRCh37Chr 6, 83880059: 83880059
3PGM3NM_001199917.1(PGM3): c.1102_1104delGAA (p.Glu368del)deletionPathogenicrs267608259GRCh38Chr 6, 83178682: 83178684
4STAT3NM_139276.2(STAT3): c.1387_1389delGTG (p.Val463del)deletionPathogenicrs113994138GRCh37Chr 17, 40477056: 40477058
5STAT3NM_139276.2(STAT3): c.1144C> T (p.Arg382Trp)single nucleotide variantPathogenicrs113994135GRCh37Chr 17, 40481661: 40481661
6STAT3NM_139276.2(STAT3): c.1145G> A (p.Arg382Gln)single nucleotide variantPathogenicrs113994136GRCh37Chr 17, 40481660: 40481660
7STAT3NM_139276.2(STAT3): c.1268G> A (p.Arg423Gln)single nucleotide variantPathogenicrs113994137GRCh37Chr 17, 40481441: 40481441
8STAT3STAT3, ARG383LEUsingle nucleotide variantPathogenic
9STAT3NM_139276.2(STAT3): c.1909G> A (p.Val637Met)single nucleotide variantPathogenicrs113994139GRCh37Chr 17, 40474492: 40474492
10STAT3NM_139276.2(STAT3): c.1166C> T (p.Thr389Ile)single nucleotide variantPathogenicrs397514766GRCh37Chr 17, 40481639: 40481639

Expression for genes affiliated with Hyper Ige Syndrome

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Search GEO for disease gene expression data for Hyper Ige Syndrome.

Pathways for genes affiliated with Hyper Ige Syndrome

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Pathways related to Hyper Ige Syndrome according to GeneCards Suite gene sharing:

(show all 32)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7IFNG, STAT3
29.6IFNG, IL4
39.6IFNG, IL4
49.6IFNG, IL4
59.5STAT3, TYK2
69.5STAT3, TYK2
79.2IFNG, STAT3, TLR4
89.1IFNG, IL4, TLR4
99.1IFNG, STAT3, TYK2
109.1IFNG, STAT3, TYK2
119.0STAT3, TLR4, TYK2
12
Show member pathways
9.0IFNG, IL4, TYK2
138.8STAT3, TLR2, TLR4
14
Show member pathways
8.8STAT3, TLR2, TLR4
158.7IFNG, TLR2, TLR4
168.7IFNG, TLR2, TLR4
178.7IFNG, TLR2, TLR4
188.7IFNG, TLR2, TLR4
198.7IFNG, TLR2, TLR4
20
Show member pathways
8.7IFNG, IL4, STAT3, TYK2
21
Show member pathways
8.7IFNG, IL4, STAT3, TYK2
228.4IFNG, STAT3, TLR2, TLR4
23
Show member pathways
8.4IFNG, STAT3, TLR2, TLR4
24
Show member pathways
8.3IFNG, IL4, TLR2, TLR4
25
Show member pathways
8.2STAT3, TLR2, TLR4, TYK2
26
Show member pathways
7.9IFNG, IL4, STAT3, TLR2, TLR4
27
Show member pathways
7.9IFNG, IL4, STAT3, TLR2, TLR4
28
Show member pathways
7.7IFNG, STAT3, TLR2, TLR4, TYK2
29
Show member pathways
7.3IFNG, IL4, STAT3, TLR2, TLR4, TYK2
30
Show member pathways
7.3IFNG, IL4, STAT3, TLR2, TLR4, TYK2
31
Show member pathways
7.3IFNG, IL4, STAT3, TLR2, TLR4, TYK2
327.3IFNG, IL4, STAT3, TLR2, TLR4, TYK2

GO Terms for genes affiliated with Hyper Ige Syndrome

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Cellular components related to Hyper Ige Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1intrinsic component of plasma membraneGO:00312269.0TLR2, TLR4
2external side of plasma membraneGO:00098977.7IFNG, IGHE, IL4, TLR2, TLR4

Biological processes related to Hyper Ige Syndrome according to GeneCards Suite gene sharing:

(show all 31)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of chemokine biosynthetic processGO:004508010.2IFNG, IL4
2positive regulation of B cell activationGO:005087110.1IGHE, IL4
3positive regulation of isotype switching to IgG isotypesGO:004830410.1IFNG, IL4
4positive regulation of interleukin-12 biosynthetic processGO:004508410.1IFNG, TLR4
5defense response to protozoanGO:004283210.1IFNG, IL4
6positive regulation of interleukin-10 productionGO:003273310.1IL4, TLR4
7negative regulation of osteoclast differentiationGO:004567110.0IL4, TLR4
8positive regulation of B cell proliferationGO:003089010.0IL4, TLR4
9regulation of dendritic cell cytokine productionGO:00027309.7TLR2, TLR4
10I-kappaB phosphorylationGO:00072529.7TLR2, TLR4
11positive regulation of chemokine productionGO:00327229.7TLR2, TLR4
12positive regulation of nitric-oxide synthase biosynthetic processGO:00517709.7TLR2, TLR4
13positive regulation of tumor necrosis factor biosynthetic processGO:00425359.7TLR2, TLR4
14positive regulation of interferon-beta productionGO:00327289.7TLR2, TLR4
15positive regulation of MHC class II biosynthetic processGO:00453489.7IFNG, IL4, TLR4
16positive regulation of NF-kappaB import into nucleusGO:00423469.7TLR2, TLR4
17lipopolysaccharide-mediated signaling pathwayGO:00316639.7TLR2, TLR4
18positive regulation of interleukin-8 productionGO:00327579.6TLR2, TLR4
19negative regulation of growth of symbiont in hostGO:00441309.6IFNG, TLR2
20positive regulation of macrophage cytokine productionGO:00609079.6TLR2, TLR4
21cellular response to lipoteichoic acidGO:00712239.6TLR2, TLR4
22positive regulation of interleukin-6 productionGO:00327559.5TLR2, TLR4
23response to bacteriumGO:00096179.4TLR2, TLR4
24negative regulation of interleukin-17 productionGO:00327009.3IFNG, TLR2, TLR4
25positive regulation of interleukin-12 productionGO:00327359.2IFNG, TLR2, TLR4
26defense response to bacteriumGO:00427429.1IFNG, IGHE, TLR4
27positive regulation of tumor necrosis factor productionGO:00327609.0IFNG, TLR2, TLR4
28positive regulation of nitric oxide biosynthetic processGO:00454298.8IFNG, TLR2, TLR4
29cytokine-mediated signaling pathwayGO:00192218.8IFNG, STAT3, TYK2
30immune responseGO:00069558.0IFNG, IGHE, IL4, TLR2, TLR4
31positive regulation of transcription from RNA polymerase II promoterGO:00459447.9IFNG, IL4, STAT3, TLR2, TLR4

Molecular functions related to Hyper Ige Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1lipopolysaccharide bindingGO:00015309.1TLR2, TLR4
2lipopolysaccharide receptor activityGO:00018759.0TLR2, TLR4

Sources for Hyper Ige Syndrome

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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