HIES2
MCID: HYP829
MIFTS: 40

Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive (HIES2)

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

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

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

Name: Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive 57 74
Hyperimmunoglobulin E Recurrent Infection Syndrome, Autosomal Recessive 53 29 6
Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive 57 13 40
Hies Autosomal Recessive 53 74
Hies2 57 74
Combined Immunodeficiency Due to Dedicator of Cytokinesis 8 Protein Deficiency 59
Hyper-Ige Recurrent Infection Syndrome Autosomal Recessive 74
Combined Immunodeficiency Due to Dock8 Deficiency 59
Hyper Ig E Syndrome, Autosomal Recessive 53
Hyper-Ige Syndrome, Autosomal Recessive 57
Autosomal Recessive Hyper Ige Syndrome 53
Hyper-Ige Syndrome Autosomal Recessive 74
Hyperimmunoglobulin E Syndrome Type 2 74
Ar Hyperimmunoglobulin E Syndrome 53
Dock8 Immunodeficiency Syndrome 59
Nonskeletal Hyper Ige Syndrome 74
Cid Due to Dock8 Deficiency 59
Hies, Autosomal Recessive 57
Dock8 Deficiency 53
Ar-Hies 53

Characteristics:

Orphanet epidemiological data:

59
combined immunodeficiency due to dock8 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
hyper-ige recurrent infection syndrome 2, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

MeSH 44 D007589
ICD10 via Orphanet 34 D81.1
Orphanet 59 ORPHA217390

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

NIH Rare Diseases : 53 Autosomal recessive hyper IgE syndrome (AR-HIES) is a very rare primary immunodeficiency syndrome characterized by highly elevated blood levels of immunoglobulin E (IgE), recurrent staphylococcal skin abscesses, and recurrent pneumonia. The same features are also seen in the more frequent autosomal dominant HIES syndrome. AR-HIES accounts for only a small minority of HIES cases, with about 130 affected families reported so far. In contrast to AD-HIES, the AR variant is further characterized by extreme hypereosinophilia (increase in the eosinophil count in the bloodstream); susceptibility to viral infections such as Herpes simplex and Molluscum contagiosum; involvement of the central nervous system; T-cell defects; and a high death rate. The dental, skeletal, connective tissue, and facial features present in AD-HIES are absent in AR-HIES. AR-HIES is inherited in an autosomal recessive fashion and is caused by mutations in the DOCK8 gene.

MalaCards based summary : Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive, also known as hyperimmunoglobulin e recurrent infection syndrome, autosomal recessive, is related to immunodeficiency 35 and dock8 immunodeficiency syndrome. An important gene associated with Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive is DOCK8 (Dedicator Of Cytokinesis 8). The drugs Fludarabine and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include skin, t cells and b cells, and related phenotypes are chronic otitis media and skin ulcer

OMIM : 57 Autosomal dominant hyper-IgE recurrent infection syndrome-1 (HIES1; 147060) is a primary immunodeficiency disorder characterized by recurrent Staphylococcus aureus skin abscesses, increased serum IgE, and abnormalities of the connective tissue, skeleton, and dentition (Buckley et al., 1972; Grimbacher et al., 1999). Autosomal recessive HIES2 shares hyper-IgE, eosinophilia, and recurrent Staphylococcal infections, but is distinguished from autosomal dominant HIES1 by the lack of connective tissue and skeletal involvement (Renner et al., 2004). See also TYK2 deficiency (611521), a clinically distinct disease entity that includes characteristic features of both autosomal recessive HIES2 and mendelian susceptibility to mycobacterial disease (MSMD; 209950) (Minegishi et al., 2006). For a discussion of genetic heterogeneity of hyper-IgE recurrent infection syndrome, see 147060. (243700)

UniProtKB/Swiss-Prot : 74 Hyper-IgE recurrent infection syndrome 2, autosomal recessive: A rare disorder characterized by immunodeficiency, recurrent infections, eczema, increased serum IgE, eosinophilia and lack of connective tissue and skeletal involvement.

Related Diseases for Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive

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

Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive Hyper Ige Recurrent Infection Syndrome 1

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

(show top 50) (show all 63)
# Related Disease Score Top Affiliating Genes
1 immunodeficiency 35 11.7
2 dock8 immunodeficiency syndrome 11.3
3 obsolete: autosomal recessive hyper-ige syndrome 11.3
4 dermatitis 10.3
5 combined t cell and b cell immunodeficiency 10.3
6 lymphopenia 10.3
7 hyper ige syndrome 10.3
8 molluscum contagiosum 10.2
9 hematopoietic stem cell transplantation 10.2
10 epidermodysplasia verruciformis 1 10.1
11 graft-versus-host disease 10.1
12 exanthem 10.1
13 food allergy 10.1
14 aortic aneurysm 10.1
15 vasculitis 10.1
16 factor viii deficiency 10.1
17 ige responsiveness, atopic 10.1
18 hemophilia a 10.1
19 dermatitis, atopic 10.1
20 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.1
21 bacterial infectious disease 10.1
22 severe combined immunodeficiency 10.1
23 hypereosinophilic syndrome 10.1
24 hemophilia 10.1
25 acquired hemophilia 10.1
26 anemia, autoimmune hemolytic 10.0
27 immune deficiency disease 10.0
28 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 10.0
29 leukemia, acute myeloid 10.0
30 mycobacterium tuberculosis 1 10.0
31 pulmonary aspergilloma 10.0
32 autosomal recessive disease 10.0
33 diffuse large b-cell lymphoma 10.0
34 cutaneous t cell lymphoma 10.0
35 osteomyelitis 10.0
36 tetanus 10.0
37 diarrhea 10.0
38 squamous cell papilloma 10.0
39 sclerosing cholangitis 10.0
40 aggressive periodontitis 10.0
41 candidiasis 10.0
42 neuritis 10.0
43 leiomyosarcoma 10.0
44 papilloma 10.0
45 central nervous system lymphoma 10.0
46 hyper ige recurrent infection syndrome 1 10.0
47 skin disease 10.0
48 lymph node tuberculosis 10.0
49 pneumonia 10.0
50 hemolytic anemia 10.0

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



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

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

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

59 32 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 chronic otitis media 59 32 hallmark (90%) Very frequent (99-80%) HP:0000389
2 skin ulcer 59 32 hallmark (90%) Very frequent (99-80%) HP:0200042
3 asthma 59 32 hallmark (90%) Very frequent (99-80%) HP:0002099
4 pneumonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002090
5 recurrent bacterial skin infections 59 32 hallmark (90%) Very frequent (99-80%) HP:0005406
6 recurrent viral infections 59 32 hallmark (90%) Very frequent (99-80%) HP:0004429
7 decrease in t cell count 59 32 hallmark (90%) Very frequent (99-80%) HP:0005403
8 b lymphocytopenia 59 32 hallmark (90%) Very frequent (99-80%) HP:0010976
9 verrucae 59 32 hallmark (90%) Very frequent (99-80%) HP:0200043
10 onychomycosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0012203
11 atopic dermatitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001047
12 recurrent candida infections 59 32 hallmark (90%) Very frequent (99-80%) HP:0005401
13 recurrent sinusitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0011108
14 increased circulating total ige level 32 hallmark (90%) HP:0003212
15 squamous cell carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002860
16 anal canal squamous carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0006763
17 squamous cell carcinoma of the vulva 59 32 occasional (7.5%) Occasional (29-5%) HP:0030417
18 recurrent respiratory infections 59 Very frequent (99-80%)
19 neoplasm 32 HP:0002664
20 eczema 32 HP:0000964
21 recurrent bacterial infections 32 HP:0002718
22 subarachnoid hemorrhage 32 HP:0002138
23 hemiplegia 32 HP:0002301
24 recurrent fungal infections 32 HP:0002841
25 eosinophilia 32 HP:0001880
26 recurrent sinopulmonary infections 32 HP:0005425
27 increased ige level 59 Very frequent (99-80%)
28 severe viral infections 59 Very frequent (99-80%)
29 cerebral vasculitis 32 HP:0005318

Symptoms via clinical synopsis from OMIM:

57
Respiratory Airways:
asthma

Laboratory Abnormalities:
eosinophilia
increased serum ige
decreased t cells
decreased b cells
decreased natural killer cells
more
Skin Nails Hair Skin:
atopic dermatitis
eczema, severe
skin abscesses, recurrent

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

Immunology:
recurrent bacterial infections
recurrent viral infections
recurrent fungal infections
impaired t cell immunity
impaired t cell proliferation and activation
more
Respiratory:
recurrent sinopulmonary infections

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

Clinical features from OMIM:

243700

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

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

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Related and Unrelated Donor Hematopoietic Stem Cell Transplant of DOCK8 Deficiency Recruiting NCT01176006 Phase 2 Fludarabine(Fludara, Berlex Laboratories);Cyclophosphamide(CTX, Cytoxan);Busulfan (Busulfex)
2 Apheresis and CD34+ Selection of Mobilized Peripheral Blood CD34+ Cells From Patients With DOCK8 Deficiency, LAD-1, and GATA2 Deficiency Recruiting NCT01212055

Search NIH Clinical Center for Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive

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

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

# Genetic test Affiliating Genes
1 Hyperimmunoglobulin E Recurrent Infection Syndrome, Autosomal Recessive 29 DOCK8

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

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

41
Skin, T Cells, B Cells

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

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

(show all 12)
# Title Authors PMID Year
1
Combined immunodeficiency associated with DOCK8 mutations. 8 71
19776401 2009
2
Impaired T(H)17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome. 8
18337720 2008
3
Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity. 8
17088085 2006
4
Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity. 8
14722525 2004
5
Hyper-IgE syndrome with recurrent infections--an autosomal dominant multisystem disorder. 8
10053178 1999
6
Extreme hyperimmunoglobulinemia E and undue susceptibility to infection. 8
5059313 1972
7
Skewed B cell receptor repertoire and reduced antibody avidity in patients with DOCK8 deficiency. 38
30793341 2019
8
Insights into immunity from clinical and basic science studies of DOCK8 immunodeficiency syndrome. 38
30565250 2019
9
Recent Advances in DOCK8 Immunodeficiency Syndrome. 38
27207373 2016
10
DOCK8 is critical for the survival and function of NKT cells. 38
23929855 2013
11
DOCK8 deficiency impairs CD8 T cell survival and function in humans and mice. 38
22006977 2011
12
Genetic, clinical, and laboratory markers for DOCK8 immunodeficiency syndrome. 38
21178272 2010

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

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

6 (show top 50) (show all 212)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 DOCK8 NC_000009.11: g.(?_304561)_(464239_?)del deletion Pathogenic 9:304561-464239 9:304561-464239
2 DOCK8 NC_000009.11: g.(?_214957)_(215049_?)del deletion Pathogenic 9:214957-215049 9:214957-215049
3 DOCK8 NC_000009.11: g.(?_286441)_(464239_?)del deletion Pathogenic 9:286441-464239 9:286441-464239
4 DOCK8 NM_203447.3(DOCK8): c.1418A> G (p.Lys473Arg) single nucleotide variant Pathogenic rs112321280 9:336714-336714 9:336714-336714
5 DOCK8 NM_203447.3(DOCK8): c.1126-395_2971-2751del deletion Pathogenic 9:333830-394034 9:333830-394034
6 DOCK8 nsv469505 deletion Pathogenic 9:311734-398139 9:311734-398139
7 DOCK8 NM_203447.3(DOCK8): c.3494del (p.Thr1165fs) deletion Pathogenic rs113944762 9:407033-407033 9:407033-407033
8 DOCK8 NM_203447.3(DOCK8): c.3504_3505insTGGCTGCT (p.Ala1169fs) insertion Pathogenic rs886037645 9:407043-407044 9:407043-407044
9 DOCK8 NM_203447.3(DOCK8): c.6019dup (p.Tyr2007fs) duplication Pathogenic rs869312169 9:452068-452068 9:452068-452068
10 DOCK8 deletion Pathogenic 9:204193-343954 9:204193-343954
11 DOCK8 NC_000009.11: g.(?_214957)_(422155_?)del deletion Pathogenic 9:214957-422155 9:214957-422155
12 DOCK8 NC_000009.11: g.(?_214957)_(464239_?)del deletion Pathogenic 9:214957-464239 9:214957-464239
13 DOCK8 NC_000009.11: g.(?_334205)_(340341_?)del deletion Pathogenic 9:334205-340341 9:334205-340341
14 DOCK8 NC_000009.11: g.(?_214957)_(328191_?)del deletion Pathogenic 9:214957-328191 9:214957-328191
15 DOCK8 NM_203447.3(DOCK8): c.54-1G> T single nucleotide variant Pathogenic/Likely pathogenic rs192864327 9:271626-271626 9:271626-271626
16 DOCK8 NM_203447.3(DOCK8): c.3234+2T> C single nucleotide variant Likely pathogenic 9:399261-399261 9:399261-399261
17 DOCK8 NC_000009.11: g.(?_286441)_(289601_?)del deletion Likely pathogenic 9:286441-289601 9:286441-289601
18 DOCK8 NM_203447.3(DOCK8): c.2779-2A> C single nucleotide variant Likely pathogenic rs776399238 9:386329-386329 9:386329-386329
19 DOCK8 NC_000009.11: g.(?_271607)_(328191_?)dup duplication Likely pathogenic 9:271607-328191 9:271607-328191
20 DOCK8 NC_000009.11: g.(?_271607)_(340341_?)dup duplication Likely pathogenic 9:271607-340341 9:271607-340341
21 DOCK8 NM_203447.3(DOCK8): c.1680-2A> G single nucleotide variant Likely pathogenic 9:368016-368016 9:368016-368016
22 DOCK8 NC_000009.11: g.(?_271627)_(382685_?)dup duplication Likely pathogenic 9:271627-382685 9:271627-382685
23 DOCK8 NM_203447.3(DOCK8): c.3530+1G> A single nucleotide variant Likely pathogenic 9:407070-407070 9:407070-407070
24 DOCK8 NC_000009.11: g.(?_271627)_(399259_?)dup duplication Likely pathogenic 9:271627-399259 9:271627-399259
25 DOCK8 NM_203447.3(DOCK8): c.5386C> T (p.Arg1796Ter) single nucleotide variant Conflicting interpretations of pathogenicity 9:441905-441905 9:441905-441905
26 DOCK8 NM_203447.3(DOCK8): c.452G> A (p.Arg151Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs149918318 9:304628-304628 9:304628-304628
27 DOCK8 NM_203447.3(DOCK8): c.986C> T (p.Ala329Val) single nucleotide variant Conflicting interpretations of pathogenicity rs75352090 9:328113-328113 9:328113-328113
28 DOCK8 NM_203447.3(DOCK8): c.405-8C> G single nucleotide variant Conflicting interpretations of pathogenicity rs748853895 9:304573-304573 9:304573-304573
29 DOCK8 NM_203447.3(DOCK8): c.5481T> C (p.His1827=) single nucleotide variant Conflicting interpretations of pathogenicity rs1554708887 9:442000-442000 9:442000-442000
30 DOCK8 NM_203447.3(DOCK8): c.4019A> G (p.Tyr1340Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs116920018 9:420579-420579 9:420579-420579
31 DOCK8 NM_203447.3(DOCK8): c.1582C> A (p.Leu528Met) single nucleotide variant Conflicting interpretations of pathogenicity rs146250176 9:340224-340224 9:340224-340224
32 DOCK8 NM_203447.3(DOCK8): c.4346C> T (p.Ser1449Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs370123223 9:428369-428369 9:428369-428369
33 DOCK8 NM_203447.3(DOCK8): c.870C> G (p.Leu290=) single nucleotide variant Conflicting interpretations of pathogenicity rs201244929 9:325713-325713 9:325713-325713
34 DOCK8 NM_203447.3(DOCK8): c.3460C> T (p.Arg1154Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs34390308 9:406999-406999 9:406999-406999
35 DOCK8 NM_203447.3(DOCK8): c.52A> G (p.Arg18Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs200689054 9:215028-215028 9:215028-215028
36 DOCK8 NM_203447.3(DOCK8): c.5211G> A (p.Glu1737=) single nucleotide variant Conflicting interpretations of pathogenicity rs34098809 9:439376-439376 9:439376-439376
37 DOCK8 NM_203447.3(DOCK8): c.380G> A (p.Arg127His) single nucleotide variant Conflicting interpretations of pathogenicity rs150742426 9:289557-289557 9:289557-289557
38 DOCK8 NM_203447.3(DOCK8): c.2862A> T (p.Pro954=) single nucleotide variant Conflicting interpretations of pathogenicity rs117610764 9:386414-386414 9:386414-386414
39 DOCK8 NM_203447.3(DOCK8): c.6201A> G (p.Glu2067=) single nucleotide variant Conflicting interpretations of pathogenicity rs145573166 9:463649-463649 9:463649-463649
40 DOCK8 NM_203447.3(DOCK8): c.663C> A (p.Asp221Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs139391329 9:312088-312088 9:312088-312088
41 DOCK8 NM_203447.3(DOCK8): c.3606T> C (p.Cys1202=) single nucleotide variant Conflicting interpretations of pathogenicity rs143919622 9:414857-414857 9:414857-414857
42 DOCK8 NM_203447.3(DOCK8): c.3813A> G (p.Lys1271=) single nucleotide variant Conflicting interpretations of pathogenicity rs75411647 9:418180-418180 9:418180-418180
43 DOCK8 NM_203447.3(DOCK8): c.3022C> T (p.Arg1008Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs16937932 9:396836-396836 9:396836-396836
44 DOCK8 NM_203447.3(DOCK8): c.3058A> G (p.Ile1020Val) single nucleotide variant Conflicting interpretations of pathogenicity rs151094543 9:396872-396872 9:396872-396872
45 DOCK8 NM_203447.3(DOCK8): c.685G> C (p.Ala229Pro) single nucleotide variant Uncertain significance rs149234127 9:312110-312110 9:312110-312110
46 DOCK8 NM_203447.3(DOCK8): c.5828C> T (p.Thr1943Ile) single nucleotide variant Uncertain significance rs148368084 9:449794-449794 9:449794-449794
47 DOCK8 NM_203447.3(DOCK8): c.2017A> T (p.Ile673Phe) single nucleotide variant Uncertain significance rs372858877 9:372194-372194 9:372194-372194
48 DOCK8 NM_203447.3(DOCK8): c.1623C> G (p.His541Gln) single nucleotide variant Uncertain significance rs200201944 9:340265-340265 9:340265-340265
49 DOCK8 NM_203447.3(DOCK8): c.2740G> A (p.Ala914Thr) single nucleotide variant Uncertain significance rs375665207 9:382647-382647 9:382647-382647
50 DOCK8 NM_203447.3(DOCK8): c.3312G> C (p.Glu1104Asp) single nucleotide variant Uncertain significance rs138810908 9:404995-404995 9:404995-404995

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

74
# Symbol AA change Variation ID SNP ID
1 DOCK8 p.Lys473Arg VAR_063753 rs112321280

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

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

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

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

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

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