HIES2
MCID: HYP829
MIFTS: 41

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 56 73
Hyperimmunoglobulin E Recurrent Infection Syndrome, Autosomal Recessive 52 29 6
Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive 56 13 39
Hies Autosomal Recessive 52 73
Hies2 56 73
Combined Immunodeficiency Due to Dedicator of Cytokinesis 8 Protein Deficiency 58
Hyper-Ige Recurrent Infection Syndrome Autosomal Recessive 73
Combined Immunodeficiency Due to Dock8 Deficiency 58
Hyper Ig E Syndrome, Autosomal Recessive 52
Hyper-Ige Syndrome, Autosomal Recessive 56
Autosomal Recessive Hyper Ige Syndrome 52
Hyper-Ige Syndrome Autosomal Recessive 73
Hyperimmunoglobulin E Syndrome Type 2 73
Ar Hyperimmunoglobulin E Syndrome 52
Dock8 Immunodeficiency Syndrome 58
Nonskeletal Hyper Ige Syndrome 73
Cid Due to Dock8 Deficiency 58
Hies, Autosomal Recessive 56
Dock8 Deficiency 52
Ar-Hies 52

Characteristics:

Orphanet epidemiological data:

58
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:

56
Inheritance:
autosomal recessive

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


HPO:

31
hyper-ige recurrent infection syndrome 2, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare immunological diseases


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

NIH Rare Diseases : 52 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 : 56 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 : 73 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 2
Hyper Ige Recurrent Infection Syndrome 3 Hyper Ige Recurrent Infection Syndrome 4
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 64)
# 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 epidermodysplasia verruciformis 1 10.1
10 wiskott-aldrich syndrome 10.1
11 graft-versus-host disease 10.1
12 exanthem 10.1
13 food allergy 10.1
14 aortic aneurysm 10.1
15 herpes simplex 10.1
16 vasculitis 10.1
17 factor viii deficiency 10.1
18 ige responsiveness, atopic 10.1
19 hemophilia a 10.1
20 dermatitis, atopic 10.1
21 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.1
22 bacterial infectious disease 10.1
23 severe combined immunodeficiency 10.1
24 hypereosinophilic syndrome 10.1
25 hemophilia 10.1
26 acquired hemophilia 10.1
27 anemia, autoimmune hemolytic 10.0
28 immune deficiency disease 10.0
29 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 10.0
30 leukemia, acute myeloid 10.0
31 mycobacterium tuberculosis 1 10.0
32 pulmonary aspergilloma 10.0
33 autosomal recessive disease 10.0
34 diffuse large b-cell lymphoma 10.0
35 cutaneous t cell lymphoma 10.0
36 osteomyelitis 10.0
37 tetanus 10.0
38 diarrhea 10.0
39 squamous cell papilloma 10.0
40 sclerosing cholangitis 10.0
41 aggressive periodontitis 10.0
42 candidiasis 10.0
43 neuritis 10.0
44 leiomyosarcoma 10.0
45 papilloma 10.0
46 central nervous system lymphoma 10.0
47 hyper ige recurrent infection syndrome 1 10.0
48 skin disease 10.0
49 lymph node tuberculosis 10.0
50 pneumonia 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:

58 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 chronic otitis media 58 31 hallmark (90%) Very frequent (99-80%) HP:0000389
2 skin ulcer 58 31 hallmark (90%) Very frequent (99-80%) HP:0200042
3 asthma 58 31 hallmark (90%) Very frequent (99-80%) HP:0002099
4 pneumonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002090
5 recurrent bacterial skin infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0005406
6 recurrent viral infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0004429
7 decrease in t cell count 58 31 hallmark (90%) Very frequent (99-80%) HP:0005403
8 b lymphocytopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0010976
9 recurrent candida infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0005401
10 verrucae 58 31 hallmark (90%) Very frequent (99-80%) HP:0200043
11 onychomycosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0012203
12 atopic dermatitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001047
13 recurrent sinusitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0011108
14 increased circulating total ige level 31 hallmark (90%) HP:0003212
15 squamous cell carcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002860
16 anal canal squamous carcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0006763
17 squamous cell carcinoma of the vulva 58 31 occasional (7.5%) Occasional (29-5%) HP:0030417
18 recurrent respiratory infections 58 Very frequent (99-80%)
19 neoplasm 31 HP:0002664
20 eczema 31 HP:0000964
21 recurrent bacterial infections 31 HP:0002718
22 subarachnoid hemorrhage 31 HP:0002138
23 hemiplegia 31 HP:0002301
24 recurrent fungal infections 31 HP:0002841
25 severe viral infections 58 Very frequent (99-80%)
26 eosinophilia 31 HP:0001880
27 increased ige level 58 Very frequent (99-80%)
28 recurrent sinopulmonary infections 31 HP:0005425
29 cerebral vasculitis 31 HP:0005318

Symptoms via clinical synopsis from OMIM:

56
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 6055-19-2, 50-18-0 2907
3
Busulfan Approved, Investigational Phase 2 55-98-1 2478
4
Lenograstim Approved, Investigational Phase 2 135968-09-1
5 Yellow Dock Phase 2
6 Alkylating Agents Phase 2
7 Immunologic Factors Phase 2
8 Anesthetics Phase 2
9 Immunosuppressive Agents Phase 2
10 Antimetabolites Phase 2
11 Antirheumatic Agents 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 Natural History, Management, and Genetics of the Hyperimmunoglobulin E Recurrent Infection Syndrome (HIES) Recruiting NCT00006150
3 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:

40
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. 6 56
19776401 2009
2
Impaired T(H)17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome. 56
18337720 2008
3
Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity. 56
17088085 2006
4
Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity. 56
14722525 2004
5
Hyper-IgE syndrome with recurrent infections--an autosomal dominant multisystem disorder. 56
10053178 1999
6
Extreme hyperimmunoglobulinemia E and undue susceptibility to infection. 56
5059313 1972
7
Skewed B cell receptor repertoire and reduced antibody avidity in patients with DOCK8 deficiency. 61
30793341 2019
8
Insights into immunity from clinical and basic science studies of DOCK8 immunodeficiency syndrome. 61
30565250 2019
9
Recent Advances in DOCK8 Immunodeficiency Syndrome. 61
27207373 2016
10
DOCK8 is critical for the survival and function of NKT cells. 61
23929855 2013
11
DOCK8 deficiency impairs CD8 T cell survival and function in humans and mice. 61
22006977 2011
12
Genetic, clinical, and laboratory markers for DOCK8 immunodeficiency syndrome. 61
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:

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DOCK8 NM_203447.3(DOCK8):c.1418A>G (p.Lys473Arg)SNV Pathogenic 949 rs112321280 9:336714-336714 9:336714-336714
2 DOCK8 NM_203447.3(DOCK8):c.1126-395_2971-2751deldeletion Pathogenic 950 9:333830-394034 9:333830-394034
3 DOCK8 nsv469505deletion Pathogenic 951 9:311734-398139 9:311734-398139
4 DOCK8 NM_203447.3(DOCK8):c.3494del (p.Thr1165fs)deletion Pathogenic 60562 rs113944762 9:407033-407033 9:407033-407033
5 DOCK8 NM_203447.3(DOCK8):c.3504_3505insTGGCTGCT (p.Ala1169fs)insertion Pathogenic 60563 rs886037645 9:407043-407044 9:407043-407044
6 DOCK8 NM_203447.3(DOCK8):c.6019dup (p.Tyr2007fs)duplication Pathogenic 224488 rs869312169 9:452068-452068 9:452068-452068
7 DOCK8 deletion Pathogenic 224487 9:204193-343954 9:204193-343954
8 DOCK8 NC_000009.11:g.(?_214957)_(215049_?)deldeletion Pathogenic 468732 9:214957-215049 9:214957-215049
9 DOCK8 NC_000009.11:g.(?_304561)_(464239_?)deldeletion Pathogenic 468735 9:304561-464239 9:304561-464239
10 DOCK8 NC_000009.11:g.(?_286441)_(464239_?)deldeletion Pathogenic 536619 9:286441-464239 9:286441-464239
11 DOCK8 NC_000009.11:g.(?_214957)_(422155_?)deldeletion Pathogenic 647966 9:214957-422155 9:214957-422155
12 DOCK8 NC_000009.11:g.(?_214957)_(464239_?)deldeletion Pathogenic 662869 9:214957-464239 9:214957-464239
13 DOCK8 NC_000009.11:g.(?_334205)_(340341_?)deldeletion Pathogenic 647937 9:334205-340341 9:334205-340341
14 DOCK8 NC_000009.11:g.(?_214957)_(328191_?)deldeletion Pathogenic 649076 9:214957-328191 9:214957-328191
15 DOCK8 NC_000009.11:g.(?_271607)_(340341_?)dupduplication Likely pathogenic 666222 9:271607-340341 9:271607-340341
16 DOCK8 NC_000009.11:g.(?_271627)_(399259_?)dupduplication Likely pathogenic 584127 9:271627-399259 9:271627-399259
17 DOCK8 NM_203447.3(DOCK8):c.1680-2A>GSNV Likely pathogenic 572171 9:368016-368016 9:368016-368016
18 DOCK8 NC_000009.11:g.(?_271627)_(382685_?)dupduplication Likely pathogenic 584159 9:271627-382685 9:271627-382685
19 DOCK8 NM_203447.3(DOCK8):c.3530+1G>ASNV Likely pathogenic 572901 rs1564025732 9:407070-407070 9:407070-407070
20 DOCK8 NC_000009.11:g.(?_271607)_(328191_?)dupduplication Likely pathogenic 536621 9:271607-328191 9:271607-328191
21 DOCK8 NC_000009.11:g.(?_286441)_(289601_?)deldeletion Likely pathogenic 468733 9:286441-289601 9:286441-289601
22 DOCK8 NM_203447.3(DOCK8):c.2779-2A>CSNV Likely pathogenic 536604 rs776399238 9:386329-386329 9:386329-386329
23 DOCK8 NM_203447.3(DOCK8):c.3234+2T>CSNV Likely pathogenic 573664 9:399261-399261 9:399261-399261
24 DOCK8 NM_203447.3(DOCK8):c.405-8C>GSNV Conflicting interpretations of pathogenicity 489173 rs748853895 9:304573-304573 9:304573-304573
25 DOCK8 NM_203447.3(DOCK8):c.5481T>C (p.His1827=)SNV Conflicting interpretations of pathogenicity 517309 rs1554708887 9:442000-442000 9:442000-442000
26 DOCK8 NM_203447.3(DOCK8):c.986C>T (p.Ala329Val)SNV Conflicting interpretations of pathogenicity 520802 rs75352090 9:328113-328113 9:328113-328113
27 DOCK8 NM_203447.3(DOCK8):c.52A>G (p.Arg18Gly)SNV Conflicting interpretations of pathogenicity 429234 rs200689054 9:215028-215028 9:215028-215028
28 DOCK8 NM_203447.3(DOCK8):c.4346C>T (p.Ser1449Leu)SNV Conflicting interpretations of pathogenicity 386550 rs370123223 9:428369-428369 9:428369-428369
29 DOCK8 NM_203447.3(DOCK8):c.870C>G (p.Leu290=)SNV Conflicting interpretations of pathogenicity 384357 rs201244929 9:325713-325713 9:325713-325713
30 DOCK8 NM_203447.3(DOCK8):c.3460C>T (p.Arg1154Cys)SNV Conflicting interpretations of pathogenicity 418766 rs34390308 9:406999-406999 9:406999-406999
31 DOCK8 NM_203447.3(DOCK8):c.380G>A (p.Arg127His)SNV Conflicting interpretations of pathogenicity 366538 rs150742426 9:289557-289557 9:289557-289557
32 DOCK8 NM_203447.3(DOCK8):c.452G>A (p.Arg151Gln)SNV Conflicting interpretations of pathogenicity 366540 rs149918318 9:304628-304628 9:304628-304628
33 DOCK8 NM_203447.3(DOCK8):c.6201A>G (p.Glu2067=)SNV Conflicting interpretations of pathogenicity 367094 rs145573166 9:463649-463649 9:463649-463649
34 DOCK8 NM_203447.3(DOCK8):c.4019A>G (p.Tyr1340Cys)SNV Conflicting interpretations of pathogenicity 372357 rs116920018 9:420579-420579 9:420579-420579
35 DOCK8 NM_203447.3(DOCK8):c.1582C>A (p.Leu528Met)SNV Conflicting interpretations of pathogenicity 377797 rs146250176 9:340224-340224 9:340224-340224
36 DOCK8 NM_203447.3(DOCK8):c.3058A>G (p.Ile1020Val)SNV Conflicting interpretations of pathogenicity 218873 rs151094543 9:396872-396872 9:396872-396872
37 DOCK8 NM_203447.3(DOCK8):c.54-1G>TSNV Conflicting interpretations of pathogenicity 265359 rs192864327 9:271626-271626 9:271626-271626
38 DOCK8 NM_203447.3(DOCK8):c.663C>A (p.Asp221Glu)SNV Conflicting interpretations of pathogenicity 366546 rs139391329 9:312088-312088 9:312088-312088
39 DOCK8 NM_203447.3(DOCK8):c.3606T>C (p.Cys1202=)SNV Conflicting interpretations of pathogenicity 366993 rs143919622 9:414857-414857 9:414857-414857
40 DOCK8 NM_203447.3(DOCK8):c.3813A>G (p.Lys1271=)SNV Conflicting interpretations of pathogenicity 366995 rs75411647 9:418180-418180 9:418180-418180
41 DOCK8 NM_203447.3(DOCK8):c.2862A>T (p.Pro954=)SNV Conflicting interpretations of pathogenicity 366955 rs117610764 9:386414-386414 9:386414-386414
42 DOCK8 NM_203447.3(DOCK8):c.5211G>A (p.Glu1737=)SNV Conflicting interpretations of pathogenicity 137150 rs34098809 9:439376-439376 9:439376-439376
43 DOCK8 NM_203447.3(DOCK8):c.3022C>T (p.Arg1008Trp)SNV Conflicting interpretations of pathogenicity 178767 rs16937932 9:396836-396836 9:396836-396836
44 DOCK8 NM_203447.3(DOCK8):c.5386C>T (p.Arg1796Ter)SNV Conflicting interpretations of pathogenicity 576864 9:441905-441905 9:441905-441905
45 DOCK8 NM_203447.3(DOCK8):c.5581-4T>GSNV Uncertain significance 572475 9:446366-446366 9:446366-446366
46 DOCK8 NM_203447.3(DOCK8):c.6238A>G (p.Arg2080Gly)SNV Uncertain significance 576090 9:463686-463686 9:463686-463686
47 DOCK8 NM_203447.3(DOCK8):c.1765A>T (p.Met589Leu)SNV Uncertain significance 578536 9:368103-368103 9:368103-368103
48 DOCK8 NM_203447.3(DOCK8):c.1783A>G (p.Ser595Gly)SNV Uncertain significance 565954 9:368121-368121 9:368121-368121
49 DOCK8 NM_203447.3(DOCK8):c.2237G>A (p.Cys746Tyr)SNV Uncertain significance 579417 rs1563982826 9:377008-377008 9:377008-377008
50 DOCK8 NC_000009.11:g.(?_214957)_(407089_?)dupduplication Uncertain significance 665045 9:214957-407089 9:214957-407089

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

73
# 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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