- Decreased total neutrophil count (HP:0001875): Abnormal decrease of absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:2688)
- Helicobacter pylori infection (HP:0005202): A recurrent infection of the GI tract with helicobacter pylori, a gram-negative, microaerophilic bacterium usually found in the stomach. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2688)
- Decreased total lymphocyte count (HP:0001888): A reduced number of lymphocytes in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2688)
- Recurrent bacterial infections (HP:0002718): Increased susceptibility to bacterial infections as manifested by recurrent episodes of bacterial infection. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2688)
- Recurrent infections (HP:0002719): Increased susceptibility to infections as manifested by repeated bouts of infection. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2688)
- Abnormal bone marrow cell morphology (HP:0005561): An anomaly of the form or number of cells in the bone marrow. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2688)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2688)
- Increased circulating IgM concentration (HP:0003496): An abnormally increased level of immunoglobulin M in blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2688)
- Recurrent aphthous stomatitis (HP:0011107): Recurrent episodes of ulceration of the oral mucosa, typically presenting as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2688)
- Granulocytic hypoplasia (HP:0012139): Decreased number of granulocyte precursors in the bone marrow. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2688)
- Decreased total monocyte count (HP:0012312): Abnormal decrease of absolute number of monocytes in the blood, per microlitre, compared to a reference range for a given sex and age-group. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2688)
- Bone marrow hypercellularity (HP:0031020): A larger than normal amount or percentage of hematopoietic cells relative to marrow fat. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2688)
- Recurrent fungal infections (HP:0002841): Increased susceptibility to fungal infections as manifested by multiple episodes of fungal infection. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2688)
- Increased total monocyte count (HP:0012311): Abnormal increase of absolute number of monocytes in the blood, per microlitre, compared to a reference range for a given sex and age-group. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2688)
These phenotypes are associated with the disease Adult idiopathic neutropenia (ORPHA:2688).
The following phenotypes are NOT associated with this disease:
- Antineutrophil antibody positivity (HP:0003453): The presence of autoantibodies in the serum that react against neutrophils. Evidence: TAS. (ORPHA:2688)