HIES2
MCID: HYP829
MIFTS: 42

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

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Infectious 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 72
Hyperimmunoglobulin E Recurrent Infection Syndrome, Autosomal Recessive 20 29 6
Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive 57 13 39
Hies Autosomal Recessive 20 72
Hies2 57 72
Combined Immunodeficiency Due to Dedicator of Cytokinesis 8 Protein Deficiency 58
Hyper-Ige Recurrent Infection Syndrome Autosomal Recessive 72
Hyper-Immunoglobulin E Syndrome, Autosomal Recessive 70
Combined Immunodeficiency Due to Dock8 Deficiency 58
Hyper Ig E Syndrome, Autosomal Recessive 20
Hyper-Ige Syndrome, Autosomal Recessive 57
Autosomal Recessive Hyper Ige Syndrome 20
Hyper-Ige Syndrome Autosomal Recessive 72
Hyperimmunoglobulin E Syndrome Type 2 72
Ar Hyperimmunoglobulin E Syndrome 20
Dock8 Immunodeficiency Syndrome 58
Nonskeletal Hyper Ige Syndrome 72
Cid Due to Dock8 Deficiency 58
Hies, Autosomal Recessive 57
Dock8 Deficiency 20
Ar-Hies 20

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®:

57 (Updated 05-Apr-2021)
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


External Ids:

OMIM® 57 243700
OMIM Phenotypic Series 57 PS147060
MeSH 44 D007589
ICD10 via Orphanet 33 D81.1
Orphanet 58 ORPHA217390
UMLS 70 C1968689

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

GARD : 20 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 Busulfan have been mentioned in the context of this disorder. Affiliated tissues include t cells and b cells, and related phenotypes are asthma and recurrent viral infections

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) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 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 5, 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 72)
# Related Disease Score Top Affiliating Genes
1 immunodeficiency 35 11.6
2 dock8 immunodeficiency syndrome 11.5
3 hyper ige syndrome 10.6
4 combined immunodeficiency 10.4
5 dermatitis 10.4
6 molluscum contagiosum 10.3
7 lymphopenia 10.2
8 allergic disease 10.2
9 food allergy 10.2
10 herpes simplex 10.1
11 factor viii deficiency 10.1
12 ige responsiveness, atopic 10.1
13 immune deficiency disease 10.1
14 hemophilia a 10.1
15 dermatitis, atopic 10.1
16 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.1
17 bacterial infectious disease 10.1
18 severe combined immunodeficiency 10.1
19 hypereosinophilic syndrome 10.1
20 hemophilia 10.1
21 acquired hemophilia 10.1
22 epidermodysplasia verruciformis 1 10.0
23 wiskott-aldrich syndrome 10.0
24 graft-versus-host disease 10.0
25 exanthem 10.0
26 candidiasis 10.0
27 aortic aneurysm 10.0
28 vasculitis 10.0
29 bronchiectasis 10.0
30 mycosis fungoides 10.0
31 folliculotropic mycosis fungoides 10.0
32 autoimmune disease 9.9
33 systemic lupus erythematosus 9.9
34 anemia, autoimmune hemolytic 9.9
35 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 9.9
36 leukemia, acute myeloid 9.9
37 mycobacterium tuberculosis 1 9.9
38 pulmonary aspergilloma 9.9
39 autosomal recessive disease 9.9
40 diffuse large b-cell lymphoma 9.9
41 autism spectrum disorder 9.9
42 cutaneous t cell lymphoma 9.9
43 osteomyelitis 9.9
44 disseminated intravascular coagulation 9.9
45 tetanus 9.9
46 infant gynecomastia 9.9
47 leukemia 9.9
48 gynecomastia 9.9
49 diarrhea 9.9
50 squamous cell papilloma 9.9

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Respiratory Airways:
asthma

Respiratory:
recurrent sinopulmonary infections

Skin Nails Hair Skin:
atopic dermatitis
eczema, severe
skin abscesses, recurrent

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

Laboratory Abnormalities:
eosinophilia
increased serum ige
decreased t cells
decreased b cells
decreased natural killer cells
more
Immunology:
recurrent bacterial infections
recurrent fungal infections
recurrent viral infections
impaired t cell immunity
impaired t cell proliferation and activation
more
Neurologic Central Nervous System:
increased neurologic sequelae of infections (rare)
hemiplegia (rare)
ischemic infarction (rare)
subarachnoid hemorrhage (rare)

Clinical features from OMIM®:

243700 (Updated 05-Apr-2021)

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

40
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 17)
# Title Authors PMID Year
1
Combined immunodeficiency associated with DOCK8 mutations. 6 57
19776401 2009
2
Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity. 6 57
14722525 2004
3
DOCK8 Mutation Syndrome: A Diagnostic Challenge for Dermatologists. 6
26573532 2016
4
The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency. 6
25724123 2015
5
Somatic reversion in dedicator of cytokinesis 8 immunodeficiency modulates disease phenotype. 6
24797421 2014
6
Additional diverse findings expand the clinical presentation of DOCK8 deficiency. 6
22476911 2012
7
Impaired T(H)17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome. 57
18337720 2008
8
Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity. 57
17088085 2006
9
Hyper-IgE syndrome with recurrent infections--an autosomal dominant multisystem disorder. 57
10053178 1999
10
Extreme hyperimmunoglobulinemia E and undue susceptibility to infection. 57
5059313 1972
11
Folliculotropic mycosis fungoides driven by DOCK8 immunodeficiency syndrome. 61
33099799 2021
12
Skewed B cell receptor repertoire and reduced antibody avidity in patients with DOCK8 deficiency. 61
30793341 2019
13
Insights into immunity from clinical and basic science studies of DOCK8 immunodeficiency syndrome. 61
30565250 2019
14
Recent Advances in DOCK8 Immunodeficiency Syndrome. 61
27207373 2016
15
DOCK8 is critical for the survival and function of NKT cells. 61
23929855 2013
16
DOCK8 deficiency impairs CD8 T cell survival and function in humans and mice. 61
22006977 2011
17
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:

6 (show top 50) (show all 670)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DOCK8 NM_203447.3(DOCK8):c.1418A>G (p.Lys473Arg) SNV Pathogenic 949 rs112321280 GRCh37: 9:336714-336714
GRCh38: 9:336714-336714
2 DOCK8 nsv469505 Deletion Pathogenic 951 GRCh37: 9:311734-398139
GRCh38: 9:311734-398139
3 DOCK8 NM_203447.3(DOCK8):c.3494del (p.Thr1165fs) Deletion Pathogenic 60562 rs113944762 GRCh37: 9:407033-407033
GRCh38: 9:407033-407033
4 DOCK8 NC_000009.12:g.(?_332378)_(334404_?)del Deletion Pathogenic 831070 GRCh37: 9:332378-334404
GRCh38:
5 DOCK8 NC_000009.12:g.(?_271607)_(340341_?)del Deletion Pathogenic 831380 GRCh37: 9:271607-340341
GRCh38:
6 DOCK8 NC_000009.12:g.(?_304561)_(399279_?)del Deletion Pathogenic 831454 GRCh37: 9:304561-399279
GRCh38:
7 DOCK8 NC_000009.12:g.(?_370210)_(452137_?)del Deletion Pathogenic 831756 GRCh37: 9:370210-452137
GRCh38:
8 DOCK8 NC_000009.12:g.(?_336562)_(386446_?)del Deletion Pathogenic 831769 GRCh37: 9:336562-386446
GRCh38:
9 DOCK8 NC_000009.12:g.(?_271607)_(452137_?)del Deletion Pathogenic 831986 GRCh37: 9:271607-452137
GRCh38:
10 DOCK8 NM_203447.4(DOCK8):c.3803del (p.Phe1268fs) Deletion Pathogenic 839960 GRCh37: 9:418168-418168
GRCh38: 9:418168-418168
11 DOCK8 NM_203447.4(DOCK8):c.1963C>T (p.Gln655Ter) SNV Pathogenic 941448 GRCh37: 9:371522-371522
GRCh38: 9:371522-371522
12 DOCK8 NM_203447.3(DOCK8):c.3504_3505insTGGCTGCT (p.Ala1169fs) Insertion Pathogenic 60563 rs886037645 GRCh37: 9:407040-407041
GRCh38: 9:407040-407041
13 DOCK8 NM_203447.3(DOCK8):c.6019dup (p.Tyr2007fs) Duplication Pathogenic 224488 rs869312169 GRCh37: 9:452067-452068
GRCh38: 9:452067-452068
14 DOCK8 NM_203447.4(DOCK8):c.3500_3507dup (p.Ala1170fs) Duplication Pathogenic 860084 GRCh37: 9:407038-407039
GRCh38: 9:407038-407039
15 DOCK8 NM_203447.3(DOCK8):c.1126-395_2971-2751del Deletion Pathogenic 950 GRCh37: 9:333830-394034
GRCh38: 9:333830-394034
16 overlap with 2 genes Deletion Pathogenic 224487 GRCh37: 9:204193-343954
GRCh38: 9:204193-343954
17 DOCK8-AS1 , DOCK8 NC_000009.12:g.(?_214957)_(215049_?)del Deletion Pathogenic 468732 GRCh37: 9:214957-215049
GRCh38: 9:214957-215049
18 DOCK8 NC_000009.12:g.(?_304561)_(464239_?)del Deletion Pathogenic 468735 GRCh37: 9:304561-464239
GRCh38: 9:304561-464239
19 DOCK8 NC_000009.12:g.(?_286441)_(464239_?)del Deletion Pathogenic 536619 GRCh37: 9:286441-464239
GRCh38: 9:286441-464239
20 DOCK8 NC_000009.12:g.(?_334205)_(340341_?)del Deletion Pathogenic 647937 GRCh37: 9:334205-340341
GRCh38: 9:334205-340341
21 DOCK8 and overlap with 1 gene(s) NC_000009.12:g.(?_214957)_(422155_?)del Deletion Pathogenic 647966 GRCh37: 9:214957-422155
GRCh38: 9:214957-422155
22 DOCK8 and overlap with 1 gene(s) NC_000009.12:g.(?_214957)_(328191_?)del Deletion Pathogenic 649076 GRCh37: 9:214957-328191
GRCh38: 9:214957-328191
23 DOCK8 and overlap with 1 gene(s) NC_000009.12:g.(?_214957)_(464239_?)del Deletion Pathogenic 662869 GRCh37: 9:214957-464239
GRCh38: 9:214957-464239
24 DOCK8 NM_203447.4(DOCK8):c.5442del (p.Val1813_Tyr1814insTer) Deletion Pathogenic 1027955 GRCh37: 9:441961-441961
GRCh38: 9:441961-441961
25 DOCK8 NM_203447.3(DOCK8):c.54-1G>T SNV Pathogenic/Likely pathogenic 265359 rs192864327 GRCh37: 9:271626-271626
GRCh38: 9:271626-271626
26 DOCK8 NM_203447.3(DOCK8):c.882dup (p.Glu295fs) Duplication Likely pathogenic 421576 rs1554668061 GRCh37: 9:325722-325723
GRCh38: 9:325722-325723
27 DOCK8 NC_000009.12:g.(?_286441)_(289601_?)del Deletion Likely pathogenic 468733 GRCh37: 9:286441-289601
GRCh38: 9:286441-289601
28 DOCK8 NC_000009.11:g.(?_271627)_(399259_?)dup Duplication Likely pathogenic 584127 GRCh37: 9:271627-399259
GRCh38: 9:271627-399259
29 DOCK8 NC_000009.11:g.(?_271627)_(382685_?)dup Duplication Likely pathogenic 584159 GRCh37: 9:271627-382685
GRCh38: 9:271627-382685
30 DOCK8 NM_203447.3(DOCK8):c.3530+1G>A SNV Likely pathogenic 572901 rs1564025732 GRCh37: 9:407070-407070
GRCh38: 9:407070-407070
31 DOCK8 NM_203447.3(DOCK8):c.2779-2A>C SNV Likely pathogenic 536604 rs776399238 GRCh37: 9:386329-386329
GRCh38: 9:386329-386329
32 DOCK8 NC_000009.12:g.(?_334205)_(340341_?)dup Duplication Likely pathogenic 831501 GRCh37: 9:334205-340341
GRCh38:
33 DOCK8 NM_203447.3(DOCK8):c.3234+2T>C SNV Likely pathogenic 573664 rs756871628 GRCh37: 9:399261-399261
GRCh38: 9:399261-399261
34 DOCK8 NC_000009.11:g.(?_271607)_(328191_?)dup Duplication Likely pathogenic 536621 GRCh37: 9:271607-328191
GRCh38: 9:271607-328191
35 DOCK8 NC_000009.12:g.(?_304561)_(399279_?)dup Duplication Likely pathogenic 830532 GRCh37: 9:304561-399279
GRCh38:
36 DOCK8 NM_203447.3(DOCK8):c.1680-2A>G SNV Likely pathogenic 572171 rs749633690 GRCh37: 9:368016-368016
GRCh38: 9:368016-368016
37 DOCK8 NM_203447.3(DOCK8):c.5155G>A (p.Ala1719Thr) SNV Conflicting interpretations of pathogenicity 468739 rs144279637 GRCh37: 9:439320-439320
GRCh38: 9:439320-439320
38 DOCK8 NM_203447.3(DOCK8):c.5386C>T (p.Arg1796Ter) SNV Conflicting interpretations of pathogenicity 576864 rs775544616 GRCh37: 9:441905-441905
GRCh38: 9:441905-441905
39 DOCK8 NM_203447.3(DOCK8):c.1098G>A (p.Thr366=) SNV Conflicting interpretations of pathogenicity 748599 rs139297216 GRCh37: 9:332451-332451
GRCh38: 9:332451-332451
40 DOCK8 NM_203447.3(DOCK8):c.541C>G (p.His181Asp) SNV Conflicting interpretations of pathogenicity 709398 rs200684000 GRCh37: 9:311966-311966
GRCh38: 9:311966-311966
41 DOCK8 NM_203447.3(DOCK8):c.5892C>T (p.Asn1964=) SNV Conflicting interpretations of pathogenicity 724563 rs138617736 GRCh37: 9:449858-449858
GRCh38: 9:449858-449858
42 DOCK8 NM_203447.3(DOCK8):c.5962-9T>C SNV Conflicting interpretations of pathogenicity 720014 rs1324502895 GRCh37: 9:452002-452002
GRCh38: 9:452002-452002
43 DOCK8 NM_203447.4(DOCK8):c.3543A>G (p.Val1181=) SNV Conflicting interpretations of pathogenicity 227329 rs753242273 GRCh37: 9:414794-414794
GRCh38: 9:414794-414794
44 DOCK8 NM_203447.4(DOCK8):c.4024-4C>T SNV Conflicting interpretations of pathogenicity 366996 rs111306749 GRCh37: 9:420945-420945
GRCh38: 9:420945-420945
45 DOCK8 NM_203447.4(DOCK8):c.3460C>T SNV Conflicting interpretations of pathogenicity 418766 rs34390308 GRCh37: 9:406999-406999
GRCh38: 9:406999-406999
46 DOCK8 NM_203447.3(DOCK8):c.1582C>A (p.Leu528Met) SNV Conflicting interpretations of pathogenicity 377797 rs146250176 GRCh37: 9:340224-340224
GRCh38: 9:340224-340224
47 DOCK8 NM_203447.3(DOCK8):c.4724G>A (p.Arg1575Lys) SNV Conflicting interpretations of pathogenicity 707921 rs141252560 GRCh37: 9:432263-432263
GRCh38: 9:432263-432263
48 DOCK8 NM_203447.3(DOCK8):c.378C>G (p.Ile126Met) SNV Conflicting interpretations of pathogenicity 502648 rs141175202 GRCh37: 9:289555-289555
GRCh38: 9:289555-289555
49 DOCK8 NM_203447.3(DOCK8):c.3988C>G (p.Leu1330Val) SNV Conflicting interpretations of pathogenicity 377799 rs148081681 GRCh37: 9:420548-420548
GRCh38: 9:420548-420548
50 DOCK8 NM_203447.3(DOCK8):c.550G>A (p.Val184Met) SNV Conflicting interpretations of pathogenicity 366544 rs143461644 GRCh37: 9:311975-311975
GRCh38: 9:311975-311975

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

72
# 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

3 CDC
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11 DGIdb
17 EFO
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32 ICD10
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45 MESH via Orphanet
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
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71 UMLS via Orphanet
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