Combined immunodeficiency due to DOCK8 deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: HIES, AUTOSOMAL RECESSIVE
CID due to DOCK8 deficiency
HYPER-IgE SYNDROME, AUTOSOMAL RECESSIVE
Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency
DOCK8 immunodeficiency syndrome
Number of Symptoms 34
OrphanetNr: 217390
OMIM Id: 243700
ICD-10: D81.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal recessive hyper-IgE syndrome
 -Rare genetic disease
 -Rare immune disease
Combined T and B cell immunodeficiency
 -Rare genetic disease
 -Rare immune disease

Symptom Information: Sort by abundance 

1
 (HPO:0000246) Sinusitis Very frequent [Orphanet] 73 / 7739
2
 (HPO:0000389) Chronic otitis media Very frequent [Orphanet] 64 / 7739
3
 (HPO:0002301) Hemiplegia 42 / 7739
4
 (HPO:0004374) Hemiplegia/hemiparesis 158 / 7739
5
 (HPO:0008069) Neoplasm of the skin Occasional [Orphanet] 84 / 7739
6
 (HPO:0000964) Eczema Very frequent [Orphanet] 81 / 7739
7
 (HPO:0001047) Atopic dermatitis 20 / 7739
8
 (HPO:0200042) Skin ulcer Very frequent [Orphanet] 138 / 7739
9
 (HPO:0002138) Subarachnoid hemorrhage 9 / 7739
10
 (HPO:0010701) Abnormal immunoglobulin level Very frequent [Orphanet] 49 / 7739
11
 (HPO:0001880) Eosinophilia 35 / 7739
12
 (HPO:0002099) Asthma Very frequent [Orphanet] 62 / 7739
13
 (HPO:0005425) Recurrent sinopulmonary infections 10 / 7739
14
 (HPO:0002205) Recurrent respiratory infections Very frequent [Orphanet] 254 / 7739
15
 (HPO:0002664) Neoplasm Occasional [Orphanet] 111 / 7739
16
 (HPO:0005352) Severe T-cell immunodeficiency Very frequent [Orphanet] 20 / 7739
17
 (HPO:0100326) Immunologic hypersensitivity Very frequent [Orphanet] 28 / 7739
18
 (HPO:0004429) Recurrent viral infections 20 / 7739
19
 (HPO:0002841) Recurrent fungal infections 16 / 7739
20
 (HPO:0002718) Recurrent bacterial infections 75 / 7739
21
 (HPO:0012740) Papilloma Very frequent [Orphanet] 17 / 7739
22
 (OMIM) Decreased natural killer cells 1 / 7739
23
 (OMIM) Impaired T cell immunity 1 / 7739
24
 (OMIM) Eczema, severe 2 / 7739
25
 (MedDRA:10016946) Food allergy 3 / 7739
26
 (OMIM) Decreased serum IgM 4 / 7739
27
 (OMIM) Increased serum IgE 4 / 7739
28
 (OMIM) Recurrent skin abscesses 2 / 7739
29
 (OMIM) Impaired T cell proliferation and activation 1 / 7739
30
 (OMIM) Ischemic infarction (rare) 1 / 7739
31
 (OMIM) Increased susceptibility to carcinomas, especially cancers related to cutaneous viral infections 1 / 7739
32
 (OMIM) Decreased B cells 2 / 7739
33
 (OMIM) Decreased T cells 1 / 7739
34
 (OMIM) Increased neurologic sequelae of infections (rare) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Autosomal dominant hyper-IgE recurrent infection syndrome (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., ...
Clinical Description OMIM Renner et al. (2004) reported 13 patients from 6 consanguineous families with hyper-IgE syndrome (HIES) and recurrent infections. Five of the families were of Turkish origin. Patients were between 6 months and 5 years of age. Eight patients ...
Molecular genetics OMIM In 11 affected individuals from 8 unrelated families with autosomal recessive hyper-IgE syndrome with recurrent infections, Zhang et al. (2009) identified homozygosity or compound heterozygosity for deletions or mutations in the DOCK8 gene (see, e.g., 611432.0001-611432.0003). All the ...