- Pustular rash (HP:0033605): A rash composed of pustular lesions. A pustule is defined as a vesicle or bulla containing purulent material. It varies in size and may occur at different levels within the epidermis: subcorneal, intraepidermal, or basement membrane zones. The pustules may or may not be sterile and are normally filled with neutrophils. Evidence: PCS. Frequency: 1/6. (PMID:33782605)
- Colitis (HP:0002583): Colitis refers to an inflammation of the colon and is often used to describe an inflammation of the large intestine (colon, cecum and rectum). Colitides may be acute and self-limited or chronic, and broadly fit into the category of digestive diseases. Evidence: PCS. Frequency: 4/6. (PMID:33782605)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 3/3. (PMID:33782605)
- Hypoalbuminemia (HP:0003073): The concentration of albumin in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 2/6. (PMID:33782605)
- B-cell lymphoma (HP:0012191): A type of lymphoma that originates in B-cells. Evidence: PCS. Frequency: 2/6. (PMID:33782605)
- Hypernatremia (HP:0003228): The concentration of sodium in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 1/6. (PMID:33782605)
- Arthritis (HP:0001369): Inflammation of a joint. Evidence: PCS. Frequency: 1/6. (PMID:33782605)
- Reduced total natural killer cell count (HP:0040218): The absolute count of natural killer cells in the blood, per microlitre, is below the lower limit of normal. Evidence: PCS. Frequency: 2/6. (PMID:33782605)
- Joint swelling (HP:0001386). Evidence: PCS. Frequency: 1/6. (PMID:33782605)
- Bronchiectasis (HP:0002110): Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways. Evidence: PCS. Frequency: 1/6. (PMID:33782605)
- Vasculitis in the skin (HP:0200029): A type of vasculitis (inflammation of blood vessel walls) that affects skeletal muscle tissue. Evidence: PCS. Frequency: 1/6. (PMID:33782605)
- Recurrent skin infections (HP:0001581): Infections of the skin that happen multiple times. Evidence: PCS. Frequency: 1/6. (PMID:33782605)
- Gastritis (HP:0005263): The presence of inflammation of the gastric mucous membrane. Evidence: PCS. Frequency: 2/6. (PMID:33782605)
- Decreased naive T cell proportion (HP:0031397): An abnormally decreased proportion of naive T cells relative to the total number of T cells. Evidence: PCS. Frequency: 1/6. (PMID:33782605)
- Bronchitis (HP:0012387): Inflammation of the large airways in the lung including any part of the bronchi from the primary bronchi to the tertiary bronchi. Evidence: PCS. Frequency: 1/6. (PMID:33782605)
- Decreased circulating total IgG concentration (HP:0032132): A reduction beneath the normal level of total immunoglobulin G (IgG) in the blood. Evidence: PCS. Frequency: 5/6. (PMID:33782605)
- Osteomalacia (HP:0002749): Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets. Evidence: PCS. Frequency: 1/6. (PMID:33782605)
- Recurrent otitis media (HP:0000403): Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. Evidence: PCS. Frequency: 1/6. (PMID:33782605)
- 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: TAS. (PMID:33782605)
- Anoperineal fistula (HP:0005218): The presence of a fistula (abnormal tunnel) between the anal canal and the perineum. Evidence: PCS. Frequency: 1/6. (PMID:33782605)
- Duodenal ulcer (HP:0002588): An erosion of the mucous membrane in a portion of the duodenum. Evidence: PCS. Frequency: 1/6. (PMID:33782605)
- Abdominal pain (HP:0002027): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. Evidence: PCS. Frequency: 1/6. (PMID:33782605)
- Bowel irritability (HP:0033628): Intermittent abdominal pain with diarrhea and/or constipation. Evidence: PCS. Frequency: 1/6. (PMID:33782605)
- Postauricular pit (HP:0004464): Benign congenital lesion of the postauricular soft tissue consisting of a blind-ending narrow tube or pit. Evidence: PCS. Frequency: 1/6. (PMID:33782605)
- Spinal cord granuloma (HP:6000257): An aggregation of macrophages (forming in response to chronic inflammation) localized in or on the spinal cord. Evidence: PCS. Frequency: 1/6. (PMID:33782605)
- Intractable diarrhea (HP:0002041). Evidence: PCS. Frequency: 1/6. (PMID:33782605)
- Recurrent infections (HP:0002719): Increased susceptibility to infections as manifested by repeated bouts of infection. Evidence: PCS. Frequency: 2/6. (PMID:33782605)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: PCS. Frequency: 2/6. (PMID:33782605)
- Lymphadenopathy (HP:0002716): Enlargement (swelling) of a lymph node. Evidence: PCS. Frequency: 3/6. (PMID:33782605)
- Weight loss (HP:0001824): Reduction of total body weight. Evidence: PCS. Frequency: 3/6. (PMID:33782605)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: PCS. Frequency: 2/6. (PMID:33782605)
- Anorexia (HP:0002039): Lack of desire to eat (loss of appetite). Evidence: PCS. Frequency: 1/6. (PMID:33782605)
- Osteomyelitis (HP:0002754): Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism. Evidence: PCS. Frequency: 1/6. (PMID:33782605)
- Decreased circulating IgM concentration (HP:0002850): An abnormally decreased level of immunoglobulin M (IgM) in blood. Evidence: PCS. Frequency: 4/6. (PMID:33782605)
- Diarrhea (HP:0002014): Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. Evidence: PCS. Frequency: 5/6. (PMID:33782605)
- Decreased total T cell count (HP:0005403): Abnormal decrease in the absolute number of T cells, commonly characterized as CD3+ lymphocytes, per microliter of blood, compared to a reference range for a given sex and age-group. These may include both TCR alpha/beta and gamma/delta T cells. Evidence: PCS. Frequency: 1/6. (PMID:33782605)
- Vomiting (HP:0002013): Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. Evidence: PCS. Frequency: 1/6. (PMID:33782605)
- Oral ulcer (HP:0000155): Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue. Evidence: PCS. Frequency: 1/6. (PMID:33782605)
- Crohn's disease (HP:0100280): A chronic granulomatous inflammatory disease of the intestines that may affect any part of the gastrointestinal tract from mouth to anus, causing a wide variety of symptoms. It primarily causes abdominal pain, diarrhea which may be bloody, vomiting, or weight loss, but may also cause complications outside of the gastrointestinal tract such as skin rashes, arthritis, inflammation of the eye, tiredness, and lack of concentration. Crohn's disease is thought to be an autoimmune disease, in which the body's immune system attacks the gastrointestinal tract, causing inflammation. Evidence: PCS. Frequency: 1/6. (PMID:33782605)
- Chronic decreased circulating IgA concentration (HP:0003460): Undetectable serum immunoglobulin A level at a value < 5 mg/dL (0.05 g/L). Evidence: PCS. Frequency: 3/6. (PMID:33782605)
- Pneumonia (HP:0002090): Inflammation of any part of the lung parenchyma. Evidence: PCS. Frequency: 2/6. (PMID:33782605)
- Decreased total B cell count (HP:0010976): The absolute number of B cells in the blood, per microlitre is below the lower limit of normal of the reference range for the appropriate sex and age-group. Evidence: PCS. Frequency: 2/6. (PMID:33782605)
- Hepatitis (HP:0012115): Inflammation of the liver. Evidence: PCS. Frequency: 1/6. (PMID:33782605)
- Elevated circulating C-reactive protein concentration (HP:0011227): The concentration of C-reactive protein in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 3/6. (PMID:33782605)
- Decreased mitogen-induced T-cell proliferation (HP:0031381): Abnormal decrease of T cell proliferation in response to mitogenic stimuli. This is commonly measured through intracellular expression of Ki67, decreasing surface expression of carboxyfluorescein diacetate (CFSE), or 3H-thymidine incorporation. Length of incubation, specific stimulus and strength of stimulation may vary between laboratories. Evidence: PCS. Frequency: 1/6. (PMID:33782605)
- Villous atrophy (HP:0011473): The enteric villi are atrophic or absent. Evidence: PCS. Frequency: 1/6. (PMID:33782605)
- Follicular hyperplasia (HP:0002729): Lymphadenopathy (enlargement of lymph nodes) owing to hyperplasia of follicular (germinal) centers. Evidence: PCS. Frequency: 1/6. (PMID:33782605)
- Cholesteatoma (HP:0009797): Cholesteatoma is a benign but potentially destructive growth consisting of keratinizing epithelium located in the middle ear and/or mastoid process. In cholesteatoma, a skin cyst grows into the middle ear and mastoid. The cyst is not cancerous but can erode tissue and cause destruction of the ear. Evidence: PCS. Frequency: 1/6. (PMID:33782605)
- Recurrent fever (HP:0001954): Periodic (episodic or recurrent) bouts of fever. Evidence: PCS. Frequency: 3/6. (PMID:33782605)
- Skin rash (HP:0000988): A red eruption of the skin. Evidence: PCS. Frequency: 3/6. (PMID:33782605)
- Recurrent abscess formation (HP:0002722): An increased susceptibility to abscess formation, as manifested by a medical history of recurrent abscesses. Evidence: PCS. Frequency: 1/6. (PMID:33782605)
These phenotypes are associated with the disease immunodeficiency 82 with systemic inflammation (OMIM:619381).