GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE,TYPE I

General Information (adopted from Orphanet):

Synonyms, Signs: NEUTROPHIL CYTOSOL FACTOR 1, DEFICIENCY OF
SOC2, DEFICIENCY OF
SOLUBLE OXIDASE COMPONENT II, DEFICIENCY OF
NCF1, DEFICIENCY OF
GRANULOMATOUS DISEASE, CHRONIC, DUE TO NCF1 DEFICIENCY
CGD, AUTOSOMAL RECESSIVE CYTOCHROME b-POSITIVE, TYPE I
p47-PHOX, DEFICIENCY OF
Number of Symptoms 42
OrphanetNr:
OMIM Id: 233700
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:0002240) Hepatomegaly 467 / 7739
3
 (HPO:0005224) Rectal abscess 10 / 7739
4
 (HPO:0001744) Splenomegaly 337 / 7739
5
 (HPO:0001400) Hepatic abscesses due to immunodeficiency 4 / 7739
6
 (HPO:0007417) Discoid lupus erythematosus 6 / 7739
7
 (HPO:0005406) Recurrent bacterial skin infections 7 / 7739
8
 (HPO:0000976) Eczematoid dermatitis 22 / 7739
9
 (HPO:0002723) Absence of bactericidal oxidative 'respiratory burst' in phagocytes 4 / 7739
10
 (HPO:0003203) Negative nitroblue tetrazolium reduction test 4 / 7739
11
 (HPO:0002955) Granulomatosis 6 / 7739
12
 (HPO:0003206) Decreased activity of NADPH oxidase 8 / 7739
13
 (HPO:0006532) Recurrent pneumonia 48 / 7739
14
 (HPO:0002718) Recurrent bacterial infections 75 / 7739
15
 (HPO:0002840) Lymphadenitis 7 / 7739
16
 (HPO:0002741) Recurrent Serratia marcescens infections 4 / 7739
17
 (HPO:0003553) Cellulitis due to immunodeficiency 4 / 7739
18
 (HPO:0002716) Lymphadenopathy 129 / 7739
19
 (HPO:0002841) Recurrent fungal infections 16 / 7739
20
 (HPO:0002842) Recurrent Burkholderia cepacia infections 4 / 7739
21
 (HPO:0002740) Recurrent E. coli infections 4 / 7739
22
 (HPO:0002726) Recurrent Staphylococcus aureus infections 5 / 7739
23
 (HPO:0002724) Recurrent Aspergillus infections 4 / 7739
24
 (HPO:0002742) Recurrent Klebsiella infections 4 / 7739
25
 (MedDRA:10061259) Klebsiella infection 4 / 7739
26
 (HPO:0003621) Juvenile onset 105 / 7739
27
 (MedDRA:10074171) Aspergillus infection 4 / 7739
28
 (OMIM) Presence of cytochrome b(-245) 2 / 7739
29
 (OMIM) Tissue biopsy shows granulomas 4 / 7739
30
 (OMIM) Deficiency or absence of p47-phox protein (type I) 1 / 7739
31
 (OMIM) Pneumonia due to immunodeficiency 4 / 7739
32
 (OMIM) Serratia marcescens infections 4 / 7739
33
 (OMIM) Biopsy shows lipid-laden macrophages 4 / 7739
34
 (MedDRA:10023455) Klebsiella infections 4 / 7739
35
 (OMIM) Staphylococcus aureus infections 4 / 7739
36
 (OMIM) Discoid lupus in carriers or adults with mild disease 4 / 7739
37
 (OMIM) Dermatitis, infectious, due to immunodeficiency Impetigo 3 / 7739
38
 (OMIM) Burkholderia cepacia infections 4 / 7739
39
 (OMIM) Abscess formation in any organ 4 / 7739
40
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
41
 (MedDRA:10003486) Aspergillus infections 4 / 7739
42
 (OMIM) Perirectal abscesses due to immunodeficiency 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Azimi et al. (1968) described 3 black sisters with a clinical course and leukocyte behavior in vitro like those in affected males with X-linked CGD. In both families, parents showed normal leukocyte function.

In 8 patients, ...
Molecular genetics OMIM Clark et al. (1989) concluded that the autosomal form of CGD due to deficiency of NCF1 represents about 33% of all cases of CGD; the autosomal form due to deficiency of NCF2 represents about 5% of cases. ...