Phenotypes associated with the disease neutropenia, severe congenital, 11, autosomal dominant (OMIM:620674):
- Bone marrow maturation arrest (HP:0033606): Interruption of the procecss of diffferentiation of hematopoietic cells in the bone marrow, manifested by an increased proportion of immature cells in the bone marrow. Evidence: PCS. Frequency: 1/1. (PMID:32325141)
- Pleural empyema (HP:0011919): Accumulation of pus in the pleural cavity. Evidence: PCS. Frequency: 1/1. (PMID:32325141)
- Poor wound healing (HP:0001058): A reduced ability to heal cutaneous wounds. Evidence: PCS. Frequency: 1/1. (PMID:32325141)
- Renal hypoplasia (HP:0000089): Hypoplasia of the kidney. Evidence: PCS. Frequency: 1/1. (PMID:32325141)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 1/1. (PMID:32325141)
- Increased circulating IgG2 concentration (HP:0032299): An abnormally increased concentration of the IgG2 subtype in the blood circulation. Evidence: PCS. Frequency: 1/1. (PMID:32325141)
- Recurrent gingivitis (HP:0034284): Increased susceptibility to gingivitis, as manifested by recurrent or chronic episodes of infections or inflammations of the gums (gingival tissue) that are unusual in frequency or severity for a healthy individual of the same age. Evidence: PCS. Frequency: 1/1. (PMID:32325141)
- 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: PCS. Frequency: 1/1. (PMID:32325141)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: PCS. Frequency: 1/1. (PMID:32325141)
- Sepsis (HP:0100806): Sepsis is defined as life-threatening organ dysfunction caused by a dysregulated host response to infection. Evidence: PCS. Frequency: 1/1. (PMID:32325141)
- Verrucae (HP:0200043): Warts, benign growths on the skin or mucous membranes that cause cosmetic problems as well as pain and discomfort. Warts most often occur on the hands, feet, and genital areas. Evidence: PCS. Frequency: 1/1. (PMID:32325141)
- Perianal abscess (HP:0009789): The presence of an abscess located around the anus. Evidence: PCS. Frequency: 1/1. (PMID:32325141)
- Gingivitis (HP:0000230): Inflammation of the gingiva. Evidence: PCS. Frequency: 1/1. (PMID:32325141)
- Increased circulating IgA concentration (HP:0003261): An abnormally increased level of immunoglobulin A in blood. Evidence: PCS. Frequency: 1/1. (PMID:32325141)
- Pneumonia (HP:0002090): Inflammation of any part of the lung parenchyma. Evidence: PCS. Frequency: 1/1. (PMID:32325141)
- Recurrent sinusitis (HP:0011108): A recurrent form of sinusitis. Evidence: PCS. Frequency: 1/1. (PMID:32325141)
- Increased plasmablast proportion (HP:0032128): Abnormal increase of plasmablasts, commonly characterized as CD27+CD38hi and sometimes additionally as IgMlowCD24-, measured as percentage of total B cells in the blood, compared to a reference range for a given sex and age-group. Evidence: PCS. Frequency: 1/1. (PMID:32325141)
- 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: PCS. Frequency: 1/1. (PMID:32325141)
- Recurrent tonsillitis (HP:0011110): Inflammation of the tonsils that has occurred repeatedly. The definition of recurrent may vary somewhat, but the criteria used recently as a measure of severity were five or more episodes of true tonsillitis per year, symptoms recurring for at least a year, and episodes that are disabling and that prevent normal functioning. In some cases recurrent tonsillitis may be related to immunosusceptibility. Evidence exists for a genetic predisposition for recurrent tonsillitis. Evidence: PCS. Frequency: 1/1. (PMID:32325141)
- Aphthous ulcer (HP:0032154): Oral aphthous ulcers typically present as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border. Evidence: PCS. Frequency: 1/1. (PMID:32325141)
- Recurrent otitis media (HP:0000403): Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. Evidence: PCS. Frequency: 1/1. (PMID:32325141)
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: PCS. Frequency: 1/1. (PMID:32325141)
- Autosomal dominant inheritance (HP:0000006): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:32325141)
- Hyperuricemia (HP:0002149): The concentration of uric acid in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:32325141)
- 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: PCS. Frequency: 1/1. (PMID:32325141)