Aliases & Classifications for Hyper Ige Syndrome

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Aliases & Descriptions for Hyper Ige Syndrome:

Name: Hyper Ige Syndrome 46 25
Hyper-Ige Recurrent Infection Syndrome 46
Hyperimmunoglobulin E Syndrome 46
 
Hyper-Ige Syndrome 48
Job Syndrome 66
Hies 46

Classifications:



Summaries for Hyper Ige Syndrome

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NIH Rare Diseases:46 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 his bundle tachycardia and hyper-ige recurrent infection syndrome. An important gene associated with Hyper Ige Syndrome is PGM3 (Phosphoglucomutase 3), and among its related pathways are Cytokine production by Th17 cells in CF and IL6-mediated signaling events. Affiliated tissues include skin, lung and t cells, and related mouse phenotypes are digestive/alimentary and renal/urinary 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 98)
idRelated DiseaseScoreTop Affiliating Genes
1his bundle tachycardia12.2
2hyper-ige recurrent infection syndrome11.9
3hyper-ige recurrent infection syndrome, autosomal recessive11.8
4immunodeficiency 3511.3
5cockayne syndrome10.4DOCK8, STAT3
6epidermolysis bullosa simplex10.4DOCK8, STAT3
7dermatitis10.3
8lymphoma10.2
9atopic dermatitis10.2
10hematopoietic stem cell transplantation10.1
11thrombocythemia 310.1STAT3, TYK2
12pneumonia10.0
13molluscum contagiosum10.0
14aneurysm10.0
15systemic lupus erythematosus10.0
16b-cell lymphomas10.0
17chronic granulomatous disease10.0
18diffuse large b-cell lymphoma10.0
19t cell deficiency10.0
20candidiasis10.0
21lupus erythematosus10.0
22cortical dysplasia, complex, with other brain malformations 49.9DOCK8, STAT3, TYK2
23rickettsialpox9.8TLR2, TLR4
24atrial septal defect coronary sinus9.8TLR2, TLR4
25antigen-peptide-transporter 2 deficiency9.8TLR2, TLR4
26fanconi syndrome9.8TLR2, TLR4
27hepatic vein thrombosis9.8TLR2, TLR4
28pernicious anemia9.8TLR2, TLR4
29toxocariasis9.8TLR2, TLR4
30paraneoplastic polyneuropathy9.8TLR2, TLR4
31spondylohypoplasia, arthrogryposis and popliteal pterygium9.8TLR2, TLR4
32bacteremia9.8TLR2, TLR4
33gastroduodenal crohn's disease9.8TLR2, TLR4
34hiv-19.8
35asthma9.8
36hodgkin lymphoma9.8
37saethre-chotzen syndrome9.8
38aspergillosis9.8
39prolidase deficiency9.8
40dubowitz syndrome9.8
41craniosynostosis9.8
42mantle cell lymphoma9.8
43peripheral t-cell lymphoma9.8
44autosomal dominant disease9.8
45umbilical hernia9.8
46endocarditis9.8
47intracranial aneurysm9.8
48tetanus9.8
49synostosis9.8
50factor viii deficiency9.8

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

About this section

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

(show all 11)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
PosaconazolePhase 352171228-49-2147912
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
S1257_Selleck
SCH-56592
SCH56592
Sch 56592
Spriafil
UNII-6TK1G07BHZ
X2N
posaconazole
2
MiconazolePhase 3, Phase 2357322916-47-84189
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
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
Micantin (nitrate)
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
Prestwick0_000067
Prestwick1_000067
Prestwick2_000067
Prestwick3_000067
Prestwick_335
R 18134
R-14,889
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
3
Amphotericin BPhase 21171397-89-314956, 5280965
Synonyms:
12633-72-6
1397-89-3
30782-62-8
5-18-10-00525 (Beilstein Handbook Reference)
54482-28-9
8055-20-7
AB00513832
ABLC
AC1L1CN2
AC1L24V6
AC1L70KF
AC1L73U6
AC1NQXTD
AC1NTQ32
AC1NUQG4
AC1NY9JC
AC1O7GCZ
AC1O8FQV
AC1O8PFK
AI3-26528
AMPH-B
AMPH-b
Abelcet
Abelecet
AmBisome (TN)
Ambap1397-89-3
Ambisome
Amfotericina B
Amfotericina B [INN-Spanish]
Ampho-Moronal
Amphocin
Amphomoronal
Amphortericin B
Amphotec
Amphotec (TN)
Amphotericin
Amphotericin .BETA.
Amphotericin B
Amphotericin B (JP15/USP/INN)
Amphotericin B Cholesterol Dispersion
Amphotericin B Colloidal Dispersion
Amphotericin B [USAN:INN:JAN]
Amphotericin B, Lipid-based
Amphotericin B, Streptomyces sp.
Amphotericin-B
Amphotericine B
Amphotericine B [INN-French]
Amphotericinum
Amphotericinum B
Amphotericinum B [INN-Latin]
Amphotherizin
Amphotherizin [German]
Amphotéricine B
Amphozone
BIDD:GT0351
BPBio1_000374
BRN 0078342
BSPBio_000340
C-AmB
C06573
C47H73NO17
CCRIS 5963
CHEBI:2682
CHEMBL1200646
CHEMBL267345
CID10533925
CID10629638
CID10677275
CID14956
CID1972
 
CID352546
CID354192
CID5280965
CID5386092
CID5458486
CID5771695
CID6604295
CID6708817
CID6713692
CID9919339
D00203
DB00681
DivK1c_007045
EINECS 215-742-2
Fungilin
Fungisome
Fungisone
Fungizone
Fungizone (TN)
HMS1569A22
HSDB 3008
HSDB 3008 IAB
Halizon
I06-0257
KBio1_001989
KBio2_000551
KBio2_003119
KBio2_005687
KBioGR_002298
KBioSS_000551
LMPK06000002
LNS-AmB
LS-187721
LS-93
Liposomal Amphotericin B
Liposomal amphotericin b
MLS002702966
MolPort-006-392-260
Mysteclin-F
NCGC00014913
NCGC00090808-01
NCGC00098014-01
NCGC00179595-01
NCI527017
NCI60_004288
NCIStruc1_001042
NCIStruc2_000920
NKTR-024
NS 718
NSC 527017
NSC-527017
NSC527017
Prestwick0_000410
Prestwick1_000410
Prestwick2_000410
Prestwick3_000410
Prestwick_721
SMP1_000302
SMR001566780
SPBio_000715
SPBio_002279
ST50999656
SinuNase
SpecPlus_000949
Spectrum2_000818
Spectrum4_001779
Spectrum_000111
UNII-7XU7A7DROE
amophotericin B
amphotericin B liposomal
amphotericin b
4
Histamine PhosphatePhase 2100851-74-165513
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 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
5
RanitidinePhase 27566357-59-3, 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
AC-12712
AC1MHDJB
AC1Q1WQX
AR-1B4779
Achedos
Acidex
Alquen
Atural
Axoban
BIDD:GT0179
Biotidin
C13H22N4O3S
CAS-66357-59-3
CHEBI:8776
CHEMBL512
CID3001055
Coralen
Curan
D00422
DB00863
Duractin
EINECS 266-332-5
Ezopta
Fendibina
Gastrial
Gastridina
Gastrolav
Gastrosedol
HMS1921L07
HMS2092H15
HMS501F22
HSDB 3925
I09-0405
IDI1_000440
Istomar
KST-1B7387
Kuracid
L000504
LS-67645
Logast
Lopac-R-101
Lopac0_001073
Mauran
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
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 Base
Ranitidine HCL
Ranitidine HCL 1/2 Type
Ranitidine [USAN:BAN:INN]
Ranitidinum
Ranitidinum [INN-Latin]
Ranitiget
Ranitin
Rantacid
Rantidine
Rantidine HCL
Ratic
Raticina
SPECTRUM1501151
ST050299
STK619092
Sampep
Sostril
Spectrum5_001189
Taural
Terposen
Tocris-1967
UNII-884KT10YB7
Ul-Pep
Ulceranin
Ulcex
Ultidine
Urantac
Verlost
Vesyca
Vizerul
Weichilin
Weidos
Xanidine
ZANTAC
Zantab
Zantac (TN)
Zantadin
Zantic
ranitidine
6Ranitidine Bismuth CitratePhase 275
7
Citric AcidPhase 2106377-92-9311
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
8
histaminePhase 2100975614-87-8, 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
9
BismuthPhase 21197440-69-916682734, 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
10CitrateNutraceuticalPhase 21063
11
OmalizumabPhase 1139242138-07-4
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)

Interventional clinical trials:

(show all 17)
idNameStatusNCT IDPhase
1Posaconazole to Treat Invasive Fungal InfectionsCompletedNCT00033982Phase 3
2Sequential Cadaveric Lung and Bone Marrow Transplant for Immune Deficiency DiseasesRecruitingNCT01852370Phase 1, Phase 2
3CAMB/MAT2203 in Patients With Mucocutaneous CandidiasisRecruitingNCT02629419Phase 2
4Effect of Ranitidine on Hyper-IgE Recurrent Infection (Job's) SyndromeTerminatedNCT00527878Phase 2
5Omalizumab to Treat Hyper-IgE (Job's) SyndromeCompletedNCT00260702Phase 1
6Diagnostic Effectiveness of Virtual BronchoscopyCompletedNCT00001515Phase 1
7Learning and Behavior Problems in Children With Chronic Granulomatous Disease and Related DisordersCompletedNCT00005933
8Role of Endotracheal Suction on the Occurrence of Meconium Aspiration Syndrome in Non-vigorous Meconium Stained BabiesCompletedNCT01758822
9Study of Clinical Features and Genetics of Hyperimmunoglobulin E Recurrent InfectionRecruitingNCT00006150
10Study of Mycobacterial InfectionsRecruitingNCT00018044
11Detection and Characterization of Infections and Infection SusceptibilityRecruitingNCT00404560
12Collection of Lung Fluid and Tissue Samples for ResearchRecruitingNCT00471250
13Human Immunity Against Staphylococcus Aureus Skin InfectionRecruitingNCT02262819
14Studies of Skin Microbes in Healthy People and in People With Skin ConditionsRecruitingNCT00605878
15Role and Molecular Mechanism of Farnesoid X Receptor(FXR) and RIPK3 in the Formation of Acute Respiratory Distress Syndrome in NeonatesRecruitingNCT02598648
16Genetic Analysis of Immune DisordersEnrolling by invitationNCT00001467
17NFIL3-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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Genetic tests related to Hyper Ige Syndrome:

id Genetic test Affiliating Genes
1 Hyper-Ige Syndrome25

Anatomical Context for Hyper Ige Syndrome

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MalaCards organs/tissues related to Hyper Ige Syndrome:

34
Skin, Lung, T cells, Bone, Bone marrow, B cells, Neutrophil

Animal Models for Hyper Ige Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Hyper Ige Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.2PGM3, STAT3, TLR2, TLR4
2MP:00053678.2PGM3, STAT3, TLR2, TLR4
3MP:00053757.7STAT3, TLR2, TLR4, TYK2
4MP:00053877.3DOCK8, PGM3, STAT3, TLR2, TLR4, TYK2
5MP:00053977.2DOCK8, PGM3, STAT3, TLR2, TLR4, TYK2

Publications for Hyper Ige Syndrome

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Articles related to Hyper Ige Syndrome:

(show top 50)    (show all 234)
idTitleAuthorsYear
1
Novel DOCK8 gene mutations lead to absence of protein expression in patients with hyper-IgE syndrome. (26659092)
2016
2
Hyper-IgE syndrome with a novel mutation of the STAT3 gene. (27333819)
2016
3
Autosomal Dominant Hyper IgE Syndrome - Treatment Strategies and Clinical Outcomes. (26743515)
2016
4
Somatic mosaicism in B cells of a patient with autosomal dominant hyper IgE syndrome. (27488252)
2016
5
Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome. (26304966)
2015
6
Giant Herpes Labialis in a Child with DOCK8-deficient Hyper-IgE Syndrome. (26148752)
2015
7
Quantitative defects in invariant NKT cells and TLR responses in patients with hyper-IgE syndrome. (25796310)
2015
8
A case of exuberant candidal onychomycosis in a child with hyper IgE syndrome. (24565777)
2014
9
Acute disseminated encephalomyelitis: an uncommon presentation of hyper IgE syndrome. (25518794)
2014
10
Vertebral aspergillosis in a patient with autosomal-dominant hyper-IgE syndrome. (24197892)
2014
11
A novel large deletion of the DOCK8 gene in a Chinese family with autosomal-recessive hyper-IgE syndrome. (24673638)
2014
12
STAT3 and the Hyper-IgE syndrome: Clinical presentation, genetic origin, pathogenesis, novel findings and remaining uncertainties. (24058807)
2013
13
Renal abscess in hyper-IgE syndrome. (23374820)
2013
14
Clinical features, STAT3 gene mutations and Th17 cell analysis in nine children with hyper-IgE syndrome in mainland China. (23659370)
2013
15
Intermediate phenotypes in patients with autosomal dominant hyper-IgE syndrome caused by somatic mosaicism. (23623265)
2013
16
Heterozygous signal transducer and activator of transcription 3 mutations in hyper-IgE syndrome result in altered B-cell maturation. (22030463)
2012
17
Ruptured thoracoabdominal aneurysm in a 27-year-old with hyper IgE syndrome. (22047831)
2012
18
Cutaneous manifestations of Hyper IgE syndrome. (22441639)
2012
19
New mechanism of oral immunity to mucosal candidiasis in hyper-IgE syndrome. (21346738)
2011
20
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
21
Destructive pulmonary staphylococcal infection in a boy with hyper-IgE syndrome: a novel mutation in the signal transducer and activator of transcription 3 (STAT3) gene (p.Y657S). (21107604)
2011
22
Plasma metalloproteinase levels are dysregulated in signal transducer and activator of transcription 3 mutated hyper-IgE syndrome. (21872914)
2011
23
Pneumocystis jirovecii pneumonia in a baby with hyper-IgE syndrome. (19308447)
2010
24
Diagnostic approach to the hyper-IgE syndromes: immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis. (20816194)
2010
25
Invasive fungal disease in autosomal-dominant hyper-IgE syndrome. (20392475)
2010
26
Hyper-IgE syndrome. (19717292)
2009
27
Molecular explanation for the contradiction between systemic Th17 defect and localized bacterial infection in hyper-IgE syndrome. (19487419)
2009
28
Cutis verticis gyrata in a patient with hyper-IgE syndrome. (19688159)
2009
29
Hyper-IgE syndrome with mutation in STAT3 gene - case report and literature review]. (19648655)
2009
30
Hyper IgE syndrome: an update on clinical aspects and the role of signal transducer and activator of transcription 3. (18978467)
2008
31
Dominant negative STAT-3 mutations in hyper-IgE syndrome]. (18457738)
2008
32
Unusual psoriasiform lesions in a patient with Hyper-IgE syndrome. (17309489)
2007
33
STAT3 mutations in the hyper-IgE syndrome. (17881745)
2007
34
The hyper IgE syndrome and mutations in TYK2. (17521577)
2007
35
Congenital patent ductus venosus: an association with the hyper IgE syndrome. (17236905)
2007
36
The clinical and laboratory survey of Iranian patients with hyper-IgE syndrome. (17008235)
2006
37
Atopic dermatitis or hyper-IgE syndrome? (16913276)
2006
38
Giant chalazia in the hyperimmunoglobulinemia E (hyper-IgE) syndrome. (15206652)
2004
39
Cytokine imbalance in hyper-IgE syndrome: reduced expression of transforming growth factor beta and interferon gamma genes in circulating activated T cells. (12694256)
2003
40
Genetic linkage of hyper-IgE syndrome to chromosome 4. (10441580)
1999
41
Co-existence of Dubowitz and hyper-IgE syndromes: a case report. (8741037)
1996
42
Acute respiratory distress syndrome due to methicillin-resistant Staphylococcus aureus sepsis in hyper-IgE syndrome. (8777983)
1996
43
Hyper IgE syndrome induced by HIV infection. (7909476)
1993
44
Atypical antiglomerular basement membrane disease associated with defective leukocyte phagocytosis and hyper-IgE syndrome. (8381945)
1993
45
Hyper-IgE syndrome: a case report. (2135680)
1990
46
Hyper-IgE syndrome and H2-receptor blockade. (2570328)
1989
47
Remission of hyper-IgE syndrome treated with plasmapheresis and cytotoxic immunosuppression. (3391990)
1988
48
IgE Fc receptor positive T, B and NK cells in patients with the hyper-IgE syndrome. (3159686)
1985
49
Serum IgE and IgG antibodies to tetanus toxoid and candidin in immunodeficient children with the hyper-IgE syndrome. (6602146)
1983
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
2NM_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

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 28)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.4STAT3, TLR4
29.3STAT3, TYK2
39.3STAT3, TYK2
49.3STAT3, TYK2
5
Show member pathways
9.3STAT3, TYK2
69.3STAT3, TYK2
7
Show member pathways
9.3STAT3, TYK2
89.3STAT3, TYK2
99.3STAT3, TYK2
109.3STAT3, TYK2
119.1TLR2, TLR4
129.1TLR2, TLR4
139.1TLR2, TLR4
149.1TLR2, TLR4
15
Show member pathways
9.1TLR2, TLR4
169.1TLR2, TLR4
179.1TLR2, TLR4
188.8STAT3, TLR4, TYK2
19
Show member pathways
8.6STAT3, TLR2, TLR4
208.6STAT3, TLR2, TLR4
21
Show member pathways
8.6STAT3, TLR2, TLR4
228.6STAT3, TLR2, TLR4
238.5STAT3, TLR2, TYK2
24
Show member pathways
8.0STAT3, TLR2, TLR4, TYK2
25
Show member pathways
8.0STAT3, TLR2, TLR4, TYK2
26
Show member pathways
8.0STAT3, TLR2, TLR4, TYK2
27
Show member pathways
8.0STAT3, TLR2, TLR4, TYK2
28
Show member pathways
8.0STAT3, 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:00312269.1TLR2, TLR4

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

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1regulation of cytokine secretionGO:00507079.8TLR2, TLR4
2positive regulation of chemokine productionGO:00327229.7TLR2, TLR4
3positive regulation of NF-kappaB import into nucleusGO:00423469.7TLR2, TLR4
4MyD88-dependent toll-like receptor signaling pathwayGO:00027559.7TLR2, TLR4
5cellular response to lipoteichoic acidGO:00712239.7TLR2, TLR4
6lipopolysaccharide-mediated signaling pathwayGO:00316639.7TLR2, TLR4
7positive regulation of interleukin-12 productionGO:00327359.7TLR2, TLR4
8positive regulation of interleukin-10 productionGO:00327339.7TLR2, TLR4
9positive regulation of nitric-oxide synthase biosynthetic processGO:00517709.6TLR2, TLR4
10positive regulation of inflammatory responseGO:00507299.6TLR2, TLR4
11positive regulation of tumor necrosis factor productionGO:00327609.6TLR2, TLR4
12toll-like receptor signaling pathwayGO:00022249.6TLR2, TLR4
13I-kappaB phosphorylationGO:00072529.6TLR2, TLR4
14positive regulation of interleukin-8 productionGO:00327579.4TLR2, TLR4
15positive regulation of interleukin-6 productionGO:00327559.3TLR2, TLR4
16positive regulation of interferon-beta productionGO:00327289.3TLR2, TLR4
17innate immune responseGO:00450878.6TLR2, TLR4, TYK2
18positive regulation of gene expressionGO:00106288.6STAT3, TLR2, TLR4

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

idNameGO IDScoreTop Affiliating Genes
1lipopolysaccharide receptor activityGO:00018759.4TLR2, TLR4
2lipopolysaccharide bindingGO:00015309.1TLR2, TLR4

Sources for Hyper Ige Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet