- Recurrent Escherichia coli infection (HP:0002740): Increased susceptibility to Escherichia coli infections as manifested by recurrent episodes of Escherichia coli infection. Evidence: IEA. (OMIM:306400)
- 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:306400)
- Recurrent Serratia infection (HP:0002741): Increased susceptibility to Serratia infections as manifested by recurrent episodes of Serratia infection. Evidence: IEA. (OMIM:306400)
- Pleural effusion (HP:0002202): The presence of an excessive amount of fluid in the pleural cavity. Evidence: PCS. Frequency: 1/1. (PMID:24991462)
- Lymphadenitis (HP:0002840): Inflammation of a lymph node. Evidence: IEA. (OMIM:306400)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: PCS. Frequency: 1/1. (PMID:24991462)
- Atelectasis (HP:0100750): Collapse of part of a lung associated with absence of inflation (air) of that part. Evidence: PCS. Frequency: 1/1. (PMID:24991462)
- 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: TAS. (OMIM:306400)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/1. (PMID:24991462)
- Lymphadenopathy (HP:0002716): Enlargement (swelling) of a lymph node. Evidence: IEA. (OMIM:306400)
- 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:306400)
- Recurrent pneumonia (HP:0006532): An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia. Evidence: PCS. Frequency: 1/1. (PMID:24991462)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: PCS. Frequency: 1/1. (PMID:24991462)
- Decreased activity of NADPH oxidase (HP:0003206). Evidence: IEA. (OMIM:306400)
- Recurrent bacterial skin infections (HP:0005406): Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis. Evidence: IEA. (OMIM:306400)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: IEA. (OMIM:306400)
- Osteomyelitis (HP:0002754): Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism. Evidence: PCS. Frequency: 1/1. (PMID:24991462)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: IEA. (OMIM:306400)
- 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: IEA. (OMIM:306400)
- Rectal abscess (HP:0005224): A collection of pus in the area of the rectum. Evidence: IEA. (OMIM:306400)
- Ascites (HP:0001541): Accumulation of fluid in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen). Evidence: PCS. Frequency: 1/1. (PMID:24991462)
- Cough (HP:0012735): A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation. Evidence: PCS. Frequency: 1/1. (PMID:24991462)
- X-linked recessive inheritance (HP:0001419): A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. Evidence: PCS. (PMID:2556453)
- Granuloma (HP:0032252): A compact, organized collection of mature mononuclear phagocytes, which may be but is not necessarily accompanied by accessory features such as necrosis. Evidence: PCS. Frequency: 1/1. (PMID:24991462)
- Air bronchogram (HP:0033662): An air bronchogram is a pattern of air-filled (low-attenuation) bronchi on a background of opaque (high-attenuation) airless lung. The sign implies (a) patency of proximal airways and (b) evacuation of alveolar air by means of absorption (atelectasis) or replacement (eg, pneumonia) or a combination of these processes. In rare cases, the displacement of air is the result of marked interstitial expansion (eg, lymphoma). Evidence: PCS. Frequency: 1/1. (PMID:24991462)
- Cellulitis (HP:0100658): A bacterial infection and inflammation of the skin und subcutaneous tissues. Evidence: TAS. (OMIM:306400)
- Recurrent Staphylococcus aureus infection (HP:0002726): Increased susceptibility to Staphylococcus aureus infections as manifested by recurrent episodes of Staphylococcus aureus infection. Evidence: IEA. (OMIM:306400)
- 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:306400)
- Recurrent Aspergillus infection (HP:0002724): Increased susceptibility to Aspergillus infections as manifested by recurrent episodes of Aspergillus infection. Evidence: IEA. (OMIM:306400)
- Deficiency or absence of cytochrome b(-245) (HP:0003514). Evidence: IEA. (OMIM:306400)
- 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:306400)
- Recurrent Klebsiella infection (HP:0002742): Increased susceptibility to Klebsiella infections as manifested by recurrent episodes of Klebsiella infection. Evidence: IEA. (OMIM:306400)
- Recurrent Burkholderia cepacia infection (HP:0002842). Evidence: IEA. (OMIM:306400)
- 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: TAS. (OMIM:306400)
These phenotypes are associated with the disease granulomatous disease, chronic, X-linked (OMIM:306400).