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

General Information (adopted from Orphanet):

Synonyms, Signs: NCF2, DEFICIENCY OF
NEUTROPHIL CYTOSOL FACTOR 2, DEFICIENCY OF
GRANULOMATOUS DISEASE, CHRONIC, DUE TO NCF2 DEFICIENCY
p67-PHOX, DEFICIENCY OF
CGD, AUTOSOMAL RECESSIVE CYTOCHROME b-POSITIVE, TYPE II
Number of Symptoms 43
OrphanetNr:
OMIM Id: 233710
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:0000976) Eczematoid dermatitis 22 / 7739
7
(HPO:0005406) Recurrent bacterial skin infections 7 / 7739
8
(HPO:0007417) Discoid lupus erythematosus 6 / 7739
9
(HPO:0002955) Granulomatosis 6 / 7739
10
(HPO:0003203) Negative nitroblue tetrazolium reduction test 4 / 7739
11
(HPO:0002723) Absence of bactericidal oxidative 'respiratory burst' in phagocytes 4 / 7739
12
(HPO:0003206) Decreased activity of NADPH oxidase 8 / 7739
13
(HPO:0006532) Recurrent pneumonia 48 / 7739
14
(HPO:0002841) Recurrent fungal infections 16 / 7739
15
(HPO:0002840) Lymphadenitis 7 / 7739
16
(HPO:0002716) Lymphadenopathy 129 / 7739
17
(HPO:0003553) Cellulitis due to immunodeficiency 4 / 7739
18
(HPO:0002724) Recurrent Aspergillus infections 4 / 7739
19
(HPO:0002742) Recurrent Klebsiella infections 4 / 7739
20
(HPO:0002741) Recurrent Serratia marcescens infections 4 / 7739
21
(HPO:0002726) Recurrent Staphylococcus aureus infections 5 / 7739
22
(HPO:0002842) Recurrent Burkholderia cepacia infections 4 / 7739
23
(HPO:0002718) Recurrent bacterial infections 75 / 7739
24
(HPO:0002740) Recurrent E. coli infections 4 / 7739
25
(MedDRA:10021531) Impetigo 1 / 7739
26
(HPO:0003621) Juvenile onset 105 / 7739
27
(OMIM) Perirectal abscesses due to immunodeficiency 4 / 7739
28
(MedDRA:10074171) Aspergillus infection 4 / 7739
29
(OMIM) Biopsy shows lipid-laden macrophages 4 / 7739
30
(OMIM) Staphylococcus aureus infections 4 / 7739
31
(OMIM) Discoid lupus in carriers or adults with mild disease 4 / 7739
32
(OMIM) Burkholderia cepacia infections 4 / 7739
33
(OMIM) Deficiency or absence of p67-phox protein (type II) 1 / 7739
34
(OMIM) Presence of cytochrome b(-245) 2 / 7739
35
(MedDRA:10061259) Klebsiella infection 4 / 7739
36
(OMIM) Dermatitis, infectious, due to immunodeficiency 1 / 7739
37
(OMIM) Abscess formation in any organ 4 / 7739
38
(MedDRA:10023455) Klebsiella infections 4 / 7739
39
(OMIM) Tissue biopsy shows granulomas 4 / 7739
40
(OMIM) Pneumonia due to immunodeficiency 4 / 7739
41
(OMIM) Serratia marcescens infections 4 / 7739
42
(MedDRA:10003486) Aspergillus infections 4 / 7739
43
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Nunoi et al. (1995) reported a Japanese patient with p67-deficient CGD confirmed by mutation in the NCF2 gene (608515.0001). He was a 19-year-old man whose first episode of infection was at age 3 when he had perianal abscess, ...
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. ...