- Decreased circulating IgM concentration (HP:0002850): An abnormally decreased level of immunoglobulin M (IgM) in blood. Evidence: PCS. Frequency: 2/2. (PMID:31263572)
- 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: 1/2. (PMID:31263572)
- Decreased circulating IgE concentration (HP:0005479): An abnormally decreased level of immunoglobulin E (IgE) in blood. Evidence: PCS. Frequency: 1/2. (PMID:31263572)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 1/2. (PMID:31263572)
- Failure to thrive in infancy (HP:0001531). Evidence: PCS. Frequency: 1/2. (PMID:31263572)
- Persistent EBV viremia (HP:0020072): Persistent or recurrent detection of Epstein-Barr virus (EBV) in the blood that occurs in the context of unusual susceptibility to infection. Evidence: PCS. Frequency: 1/2. (PMID:31263572)
- 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: 2/2. (PMID:31263572)
- Decreased memory B cell proportion (HP:0030374): A reduction in the normal proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV). Evidence: PCS. (PMID:31263572)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 1/2. (PMID:31263572)
- Tube feeding (HP:0033454): Feeding problem necessitating food and nutrient delivery via a tube. Evidence: PCS. Frequency: 1/2. (PMID:31263572)
- Decreased total CD4+ T cell proportion (HP:0032218): Abnormal decrease of helper CD3+CD4+ T cells, measured as percentage of total CD3+ T cells in the blood, compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population. Evidence: PCS. Frequency: 1/2. (PMID:31263572)
- Oligoarthritis (HP:0040313): A type of arthritis that affects up to four joints in the first six months of disease. Evidence: PCS. Frequency: 1/2. (PMID:31263572)
- Villous atrophy (HP:0011473): The enteric villi are atrophic or absent. Evidence: PCS. Frequency: 1/2. (PMID:31263572)
- Eczematoid dermatitis (HP:0000964): Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces. Evidence: PCS. Frequency: 2/2. (PMID:31263572)
- Erythroderma (HP:0001019): An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever. Evidence: PCS. Frequency: 1/2. (PMID:31263572)
- Decreased total lymphocyte count (HP:0001888): A reduced number of lymphocytes in the blood. Evidence: PCS. Frequency: 1/2. (PMID:31263572)
- Recurrent respiratory infections (HP:0002205): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: PCS. Frequency: 2/2. (PMID:31263572)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: PCS. Frequency: 2/2. (PMID:31263572)
- Pulmonary fibrosis (HP:0002206): Replacement of normal lung tissues by fibroblasts and collagen. Evidence: PCS. Frequency: 1/2. (PMID:31263572)
- 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:31263572)
- Decreased circulating IgA concentration (HP:0002720): Decreased levels of immunoglobulin A (IgA). Evidence: PCS. Frequency: 2/2. (PMID:31263572)
- Chronic diarrhea (HP:0002028): The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks. Evidence: PCS. Frequency: 2/2. (PMID:31263572)
- Decreased circulating IgG concentration (HP:0004315): An abnormally decreased level of immunoglobulin G (IgG) in blood. Evidence: PCS. Frequency: 1/1. (PMID:31263572)
- 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: 2/2. (PMID:31263572)
These phenotypes are associated with the disease immunodeficiency 85 and autoimmunity (OMIM:619510).