MCID: DCK002
MIFTS: 20

Dock8 Immunodeficiency Syndrome

Categories: Bone diseases, Immune diseases, Neuronal diseases

Aliases & Classifications for Dock8 Immunodeficiency Syndrome

MalaCards integrated aliases for Dock8 Immunodeficiency Syndrome:

Name: Dock8 Immunodeficiency Syndrome 25
Hyperimmunoglobulin E Recurrent Infection Syndrome, Autosomal Recessive 25
Hyper Ige Recurrent Infection Syndrome, Autosomal Recessive 25
Hyper Immunoglobulin E Syndrome, Autosomal Recessive 25
Combined Immunodeficiency Due to Dock8 Deficiency 25
Autosomal Recessive Hyper-Ige Syndrome 25
Hyperimmunoglobulin E Syndrome Type 2 25
Non-Skeletal Hyper-Ige Syndrome 25
Cid Due to Dock8 Deficiency 25
Autosomal Recessive Hies 25
Dock8 Deficiency 25
Ar-Hies 25

Classifications:



Summaries for Dock8 Immunodeficiency Syndrome

Genetics Home Reference : 25 DOCK8 immunodeficiency syndrome is a disorder of the immune system. The condition is characterized by recurrent infections that are severe and can be life-threatening. The infections can be caused by bacteria, viruses, or fungi. Skin infections cause rashes, blisters, accumulations of pus (abscesses), open sores, and scaling. People with DOCK8 immunodeficiency syndrome also tend to have frequent bouts of pneumonia and other respiratory tract infections. Other immune system-related problems in people with DOCK8 immunodeficiency syndrome include an inflammatory skin disorder called eczema, food or environmental allergies, and asthma. DOCK8 immunodeficiency syndrome is characterized by abnormally high levels of an immune system protein called immunoglobulin E (IgE) in the blood; the levels can be more than 10 times higher than normal for no known reason. IgE normally triggers an immune response against foreign invaders in the body, particularly parasitic worms, and plays a role in allergies. It is unclear why people with DOCK8 immunodeficiency syndrome have such high levels of this protein. People with DOCK8 immunodeficiency syndrome also have highly elevated numbers of certain white blood cells called eosinophils (hypereosinophilia). Eosinophils aid in the immune response and are involved in allergic reactions. Some people with DOCK8 immunodeficiency syndrome have neurological problems, such as paralysis that affects the face or one side of the body (hemiplegia). Blockage of blood flow in the brain or abnormal bleeding in the brain, both of which can lead to stroke, can also occur in DOCK8 immunodeficiency syndrome. People with DOCK8 immunodeficiency syndrome have a greater-than-average risk of developing cancer, particularly cancers of the blood or skin. DOCK8 immunodeficiency syndrome is also commonly called autosomal recessive hyper-IgE syndrome. However, researchers have identified several conditions that feature elevated levels of IgE and that follow an autosomal recessive pattern of inheritance. Each of these conditions has its own set of additional signs and symptoms and a different genetic cause. Some doctors consider these conditions forms of hyper-IgE syndrome, while others consider them independent disorders.

MalaCards based summary : Dock8 Immunodeficiency Syndrome, also known as hyperimmunoglobulin e recurrent infection syndrome, autosomal recessive, is related to hyper-ige recurrent infection syndrome 2, autosomal recessive and obsolete: autosomal recessive hyper-ige syndrome. An important gene associated with Dock8 Immunodeficiency Syndrome is DOCK8 (Dedicator Of Cytokinesis 8). The drugs Fludarabine and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include brain, skin and b cells.

Related Diseases for Dock8 Immunodeficiency Syndrome

Diseases related to Dock8 Immunodeficiency Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 63)
# Related Disease Score Top Affiliating Genes
1 hyper-ige recurrent infection syndrome 2, autosomal recessive 11.8
2 obsolete: autosomal recessive hyper-ige syndrome 11.5
3 immunodeficiency 35 11.5
4 hyper ige syndrome 11.0
5 immune deficiency disease 10.3
6 combined t cell and b cell immunodeficiency 10.2
7 hematopoietic stem cell transplantation 10.2
8 epidermodysplasia verruciformis 1 10.1
9 graft-versus-host disease 10.1
10 exanthem 10.1
11 bacterial infectious disease 10.1
12 food allergy 10.1
13 aortic aneurysm 10.1
14 vasculitis 10.1
15 molluscum contagiosum 10.1
16 factor viii deficiency 10.1
17 hemophilia a 10.1
18 severe combined immunodeficiency 10.1
19 hemophilia 10.1
20 acquired hemophilia 10.1
21 ige responsiveness, atopic 10.0
22 dermatitis, atopic 10.0
23 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.0
24 dermatitis 10.0
25 lymphopenia 10.0
26 hypereosinophilic syndrome 10.0
27 anemia, autoimmune hemolytic 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 Dock8 Immunodeficiency Syndrome:



Diseases related to Dock8 Immunodeficiency Syndrome

Symptoms & Phenotypes for Dock8 Immunodeficiency Syndrome

Drugs & Therapeutics for Dock8 Immunodeficiency Syndrome

Drugs for Dock8 Immunodeficiency Syndrome (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 Dock8 Immunodeficiency Syndrome

Genetic Tests for Dock8 Immunodeficiency Syndrome

Anatomical Context for Dock8 Immunodeficiency Syndrome

MalaCards organs/tissues related to Dock8 Immunodeficiency Syndrome:

41
Brain, Skin, B Cells, T Cells

Publications for Dock8 Immunodeficiency Syndrome

Articles related to Dock8 Immunodeficiency Syndrome:

# Title Authors PMID Year
1
Skewed B cell receptor repertoire and reduced antibody avidity in patients with DOCK8 deficiency. 38
30793341 2019
2
Insights into immunity from clinical and basic science studies of DOCK8 immunodeficiency syndrome. 38
30565250 2019
3
Recent Advances in DOCK8 Immunodeficiency Syndrome. 38
27207373 2016
4
DOCK8 is critical for the survival and function of NKT cells. 38
23929855 2013
5
DOCK8 deficiency impairs CD8 T cell survival and function in humans and mice. 38
22006977 2011
6
Genetic, clinical, and laboratory markers for DOCK8 immunodeficiency syndrome. 38
21178272 2010

Variations for Dock8 Immunodeficiency Syndrome

Expression for Dock8 Immunodeficiency Syndrome

Search GEO for disease gene expression data for Dock8 Immunodeficiency Syndrome.

Pathways for Dock8 Immunodeficiency Syndrome

GO Terms for Dock8 Immunodeficiency Syndrome

Sources for Dock8 Immunodeficiency Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....