GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE

General Information (adopted from Orphanet):

Synonyms, Signs: CYBA DEFICIENCY
CGD DUE TO DEFICIENCY OF THE ALPHA SUBUNIT OF CYTOCHROME b
CGD, AUTOSOMAL RECESSIVE CYTOCHROME b-NEGATIVE
Number of Symptoms 43
OrphanetNr:
OMIM Id: 233690
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset: Juvenile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002755) Osteomyelitis due to immunodeficiency 5 / 7739
2
(HPO:0001400) Hepatic abscesses due to immunodeficiency 4 / 7739
3
(HPO:0002240) Hepatomegaly 467 / 7739
4
(HPO:0001744) Splenomegaly 337 / 7739
5
(HPO:0005224) Rectal abscess 10 / 7739
6
(HPO:0005406) Recurrent bacterial skin infections 7 / 7739
7
(HPO:0000976) Eczematoid dermatitis 22 / 7739
8
(HPO:0007417) Discoid lupus erythematosus 6 / 7739
9
(HPO:0003203) Negative nitroblue tetrazolium reduction test 4 / 7739
10
(HPO:0002955) Granulomatosis 6 / 7739
11
(HPO:0002723) Absence of bactericidal oxidative 'respiratory burst' in phagocytes 4 / 7739
12
(HPO:0003514) Deficiency or absence of cytochrome b(-245) 2 / 7739
13
(HPO:0003206) Decreased activity of NADPH oxidase 8 / 7739
14
(HPO:0006532) Recurrent pneumonia 48 / 7739
15
(HPO:0002740) Recurrent E. coli infections 4 / 7739
16
(HPO:0002716) Lymphadenopathy 129 / 7739
17
(HPO:0002842) Recurrent Burkholderia cepacia infections 4 / 7739
18
(HPO:0002726) Recurrent Staphylococcus aureus infections 5 / 7739
19
(HPO:0002724) Recurrent Aspergillus infections 4 / 7739
20
(HPO:0002742) Recurrent Klebsiella infections 4 / 7739
21
(HPO:0002841) Recurrent fungal infections 16 / 7739
22
(HPO:0002718) Recurrent bacterial infections 75 / 7739
23
(HPO:0002741) Recurrent Serratia marcescens infections 4 / 7739
24
(HPO:0002840) Lymphadenitis 7 / 7739
25
(HPO:0003553) Cellulitis due to immunodeficiency 4 / 7739
26
(OMIM) Tissue biopsy shows granulomas 4 / 7739
27
(MedDRA:10003486) Aspergillus infections 4 / 7739
28
(OMIM) Perirectal abscesses due to immunodeficiency 4 / 7739
29
(MedDRA:10023455) Klebsiella infections 4 / 7739
30
(OMIM) Deficiency or absence of p22-phox (608508) protein 2 / 7739
31
(OMIM) Burkholderia cepacia infections 4 / 7739
32
(OMIM) Dermatitis, infectious, due to immunodeficiency Impetigo 3 / 7739
33
(OMIM) Deficiency or absence of p91-phox (300481) protein 2 / 7739
34
(OMIM) Biopsy shows lipid-laden macrophages 4 / 7739
35
(OMIM) Staphylococcus aureus infections 4 / 7739
36
(OMIM) Pneumonia due to immunodeficiency 4 / 7739
37
(OMIM) Abscess formation in any organ 4 / 7739
38
(HPO:0003621) Juvenile onset 105 / 7739
39
(MedDRA:10074171) Aspergillus infection 4 / 7739
40
(OMIM) Serratia marcescens infections 4 / 7739
41
(OMIM) Discoid lupus in carriers or adults with mild disease 4 / 7739
42
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
43
(MedDRA:10061259) Klebsiella infection 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Chronic granulomatous disease is a genetically heterogeneous immunodeficiency disorder resulting from an inability of phagocytes to kill microbes that they have ingested. This impairment in killing is caused by any of several defects in the NADPH oxidase enzyme ...
Clinical Description OMIM Baehner and Nathan (1968) observed a 17-year-old female born of first cousins who showed a clinical course and leukocyte behavior in vitro like those in affected males with X-linked CGD. Chromosomes were normal. The nitroblue tetrazolium (NBT) test ...
Molecular genetics OMIM Clark et al. (1989) concluded that the form of CGD caused by mutation in the CYBA gene represents about 5% of all CGD cases.

In 3 patients with autosomal recessive cytochrome b-negative CGD, Dinauer et al. ...