Phenotypes associated with the disease granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 (OMIM:233710):
- Discoid lupus rash (HP:0007417): Cutaneous lesion that develops as a dry, scaly, red patch that evolves to an indurated and hyperpigmented plaque with adherent scale. Scarring may result in central white patches (loss of pigmentation) and skin atrophy. Evidence: IEA. (OMIM:233710)
- Peritonitis (HP:0002586): Inflammation of the peritoneum. Evidence: PCS. Frequency: 1/4. (PMID:7795241;PMID:10498624)
- Recurrent Escherichia coli infection (HP:0002740): Increased susceptibility to Escherichia coli infections as manifested by recurrent episodes of Escherichia coli infection. Evidence: IEA. (OMIM:233710)
- Lung abscess (HP:0025044): A circumscribed area of pus or necrotic debris in lung parenchyma, which leads to a cavity, and after formation of bronchopulmonary fistula, can manifest as an air-fluid level inside the cavity. Evidence: PCS. Frequency: 1/7. (PMID:7795241;PMID:10498624)
- Lymphadenitis (HP:0002840): Inflammation of a lymph node. Evidence: IEA. (OMIM:233710)
- Recurrent Serratia infection (HP:0002741): Increased susceptibility to Serratia infections as manifested by recurrent episodes of Serratia infection. Evidence: IEA. (OMIM:233710)
- Pulmonary nodule (HP:0033608): Focal rounded or ovoid opacity, not more than 3 cm in diameter. Pulmonary nodules are typically observed by chest radiography or computer tomography imaging. Evidence: PCS. Frequency: 1/1. (PMID:10498624)
- Cervical lymphadenopathy (HP:0025289): Enlarged lymph nodes in the neck. Evidence: PCS. Frequency: 1/1. (PMID:10498624)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: IEA. (OMIM:233710)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 4/6. (PMID:10498624)
- Axillary lymphadenopathy (HP:0034752): Enlarged lymph node located in the axillary region (armpit). Evidence: PCS. Frequency: 1/1. (PMID:10498624)
- Liver abscess (HP:0100523): A localized, circumscribed collection of purulent material (pus) within the liver parenchyma, typically resulting from a bacterial, parasitic, or fungal infection. Unlike hepatitis, which is often diffuse, an abscess is a focal lesion. Evidence: PCS. Frequency: 1/6. (PMID:10498624)
- Mediastinal lymphadenopathy (HP:0100721): Swelling of lymph nodes within the mediastinum, the central compartment of the thoracic cavities that contains the heart and the great vessels, the esophagus, and trachea and other structures including lymph nodes. Evidence: PCS. Frequency: 1/1. (PMID:10498624)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: PCS. Frequency: 1/4. (PMID:7795241;PMID:10498624)
- Recurrent infections (HP:0002719): Increased susceptibility to infections as manifested by repeated bouts of infection. Evidence: PCS. Frequency: 2/2. (PMID:7795241;PMID:10498624)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 3/7. (PMID:7795241;PMID:10498624)
- Lymphadenopathy (HP:0002716): Enlargement (swelling) of a lymph node. Evidence: PCS. (PMID:10498624)
- Granulomatosis (HP:0002955): A granulomatous inflammation leading to multiple granuloma formation, which is a specific type of inflammation. A granuloma is a focal compact collection of inflammatory cells, mononuclear cells predominating, usually as a result of the persistence of a non-degradable product and of active cell mediated hypersensitivity. Evidence: IEA. (OMIM:233710)
- Recurrent pneumonia (HP:0006532): An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia. Evidence: IEA. (OMIM:233710)
- Decreased activity of NADPH oxidase (HP:0003206). Evidence: IEA. (OMIM:233710)
- Perianal abscess (HP:0009789): The presence of an abscess located around the anus. Evidence: PCS. Frequency: 1/7. (PMID:7795241;PMID:10498624)
- Recurrent bacterial skin infections (HP:0005406): Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis. Evidence: PCS. Frequency: 1/7. (PMID:7795241;PMID:10498624)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: IEA. (OMIM:233710)
- Osteomyelitis (HP:0002754): Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism. Evidence: PCS. Frequency: 1/7. (PMID:7795241;PMID:10498624)
- Decreased neutrophil oxidative burst (HP:0003203): Abnormal decrease of neutrophil oxidative burst, commonly measured through oxidation of dihydrorhodamine (DHR) using flow cytometry or through nitroblue tetrazolium test (NBT) using optical microscopy, upon stimulation with phorbol-12-myristate-13-acetate (PMA), E. coli or other ligands. Evidence: PCS. Frequency: 7/7. (PMID:7795241;PMID:10498624)
- Inflammation of the large intestine (HP:0002037): Inflammation, or an inflammatory state in the large intestine. Evidence: PCS. Frequency: 1/1. (PMID:10498624)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: IEA. (OMIM:233710)
- Recurrent urinary tract infections (HP:0000010): Repeated infections of the urinary tract. Evidence: PCS. Frequency: 1/7. (PMID:7795241;PMID:10498624)
- Rectal abscess (HP:0005224): A collection of pus in the area of the rectum. Evidence: TAS. (OMIM:233710)
- Recurrent oral thrush (HP:0009098): Chronic accumulation and overgrowth of the fungus Candida albicans on the mucous membranes of the mouth, generally manifested as associated with creamy white lesions on the tongue or inner cheeks, occasionally spreading to the gums, tonsils, palate or oropharynx. Evidence: PCS. Frequency: 1/7. (PMID:7795241;PMID:10498624)
- Cellulitis (HP:0100658): A bacterial infection and inflammation of the skin und subcutaneous tissues. Evidence: TAS. (OMIM:233710)
- Recurrent Staphylococcus aureus infection (HP:0002726): Increased susceptibility to Staphylococcus aureus infections as manifested by recurrent episodes of Staphylococcus aureus infection. Evidence: IEA. (OMIM:233710)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:10498624)
- Eczematoid dermatitis (HP:0000964): Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces. Evidence: IEA. (OMIM:233710)
- Recurrent Aspergillus infection (HP:0002724): Increased susceptibility to Aspergillus infections as manifested by recurrent episodes of Aspergillus infection. Evidence: IEA. (OMIM:233710)
- Recurrent abscess formation (HP:0002722): An increased susceptibility to abscess formation, as manifested by a medical history of recurrent abscesses. Evidence: PCS. Frequency: 3/3. (PMID:10498624)
- Absence of bactericidal oxidative respiratory burst in phagocytes (HP:0002723): An absence of the phase of elevated metabolic activity, during which oxygen consumption increases, that occurs in neutrophils, monocytes, and macrophages shortly after phagocytosing material. An enhanced uptake of oxygen leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals, which play a part in microbiocidal activity. Evidence: IEA. (OMIM:233710)
- Recurrent Klebsiella infection (HP:0002742): Increased susceptibility to Klebsiella infections as manifested by recurrent episodes of Klebsiella infection. Evidence: IEA. (OMIM:233710)
- Immunodeficiency (HP:0002721): Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance. Evidence: PCS. (PMID:10498624)
- Recurrent Burkholderia cepacia infection (HP:0002842). Evidence: IEA. (OMIM:233710)