Phenotypes associated with the disease immunodeficiency 102 (OMIM:301082):
- Decreased naive CD4+ T cell proportion (HP:0410378): The proportion of naive CD4 T cells relative to the total number of T cells is below the lower limit of normal. Evidence: PCS. Frequency: 5/5. (PMID:33876203;PMID:35464398)
- Recurrent lower respiratory tract infections (HP:0002783): An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections. Evidence: PCS. Frequency: 4/4. (PMID:33876203)
- Decreased naive CD8+ T cell proportion (HP:0410377): Abnormal decrease of the naive CD8+ T cell subpopulation, commonly characterized as CD45RA+, CD45RO-, or CD27+, measured as percentage of total CD8+ T cells in the blood, compared to a reference range for a given sex and age-group. These cells are sometimes also characterized as CD62L+ and CCR7+. Evidence: PCS. Frequency: 3/5. (PMID:33876203;PMID:35464398)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: PCS. Frequency: 2/4. (PMID:33876203)
- Nodular regenerative hyperplasia of liver (HP:0011954): Diffuse benign transformation of the hepatic parenchyma into small regenerative nodules with minimal or no fibrosis. Evidence: PCS. Frequency: 2/4. (PMID:33876203)
- 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: 3/4. (PMID:33876203)
- Autoimmune neutropenia (HP:0001904): Abnormal decrease of the absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group, accompanied by the detection of anti-neutrophil antibodies. Evidence: PCS. Frequency: 3/4. (PMID:33876203)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 3/3. (PMID:33876203)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: PCS. Frequency: 2/4. (PMID:33876203)
- Sepsis (HP:0100806): Sepsis is defined as life-threatening organ dysfunction caused by a dysregulated host response to infection. Evidence: PCS. Frequency: 3/4. (PMID:33876203)
- Increased CD8+ TEMRA T cell proportion (HP:0500265): An increased proportion of CD8-positive effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative. Evidence: PCS. Frequency: 2/4. (PMID:33876203)
- Partial absence of specific antibody response to protein-conjugated Haemophilus influenzae type b vaccine (HP:0410305): A reduced ability to synthesize postvaccination antibodies against a protein-conjugated Haemophilus influenzae type b (Hib) antigen, as measured by antibody titer determination following vaccination. Evidence: PCS. Frequency: 0/1. (PMID:35464398)
- 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: 3/4. (PMID:33876203)
- Decreased circulating IgG concentration (HP:0004315): An abnormally decreased level of immunoglobulin G (IgG) in blood. Evidence: PCS. Frequency: 2/5. (PMID:33876203;PMID:35464398)
- 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: 4/4. (PMID:33876203)
- Decreased circulating IgM concentration (HP:0002850): An abnormally decreased level of immunoglobulin M (IgM) in blood. Evidence: PCS. Frequency: 4/5. (PMID:33876203;PMID:35464398)
- Partial absence of specific antibody response to unconjugated pneumococcus polysaccharide (HP:0410301): A reduced ability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination. Evidence: PCS. Frequency: 1/1. (PMID:35464398)
- Chronic rhinitis (HP:0002257): Chronic inflammation of the nasal mucosa. Evidence: PCS. Frequency: 1/1. (PMID:35464398)
- Decreased total leukocyte count (HP:0001882): An abnormal decreased number of leukocytes in the blood. Evidence: PCS. Frequency: 4/4. (PMID:33876203)
- Bronchiectasis (HP:0002110): Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways. Evidence: PCS. Frequency: 1/5. (PMID:33876203;PMID:35464398)
- Increased circulating interleukin 6 concentration (HP:0030783): The concentration of interleukin-6 in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 3/3. (PMID:33876203)
- Adult onset (HP:0003581): Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. Evidence: PCS. Frequency: 1/1. (PMID:35464398)
- Recurrent skin infections (HP:0001581): Infections of the skin that happen multiple times. Evidence: PCS. Frequency: 2/4. (PMID:33876203)
- Severe influenza infection (HP:0034249): An unusually severe infection by an influenza virus. Evidence: PCS. Frequency: 1/1. (PMID:35464398)
- Chronic sinusitis (HP:0011109): A chronic form of sinusitis. Evidence: PCS. Frequency: 1/1. (PMID:35464398)
- Recurrent sinusitis (HP:0011108): A recurrent form of sinusitis. Evidence: PCS. Frequency: 3/4. (PMID:33876203)
- 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: 5/5. (PMID:33876203;PMID:35464398)
- Severe varicella zoster infection (HP:0032170): An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterized by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestations including VZV pneumonia, hepatitis, meningitis, and disseminated varicella. Evidence: PCS. Frequency: 1/1. (PMID:35464398)
- 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:33876203)
- Aphthous ulcer (HP:0032154): Oral aphthous ulcers typically present as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border. Evidence: PCS. Frequency: 2/4. (PMID:33876203)
- Hypothyroidism (HP:0000821): Deficiency of thyroid hormone. Evidence: PCS. Frequency: 2/4. (PMID:33876203)
- Autoimmune thrombocytopenia (HP:0001973): The presence of thrombocytopenia in combination with detection of antiplatelet antibodies. Evidence: PCS. Frequency: 3/4. (PMID:33876203)
- Recurrent upper respiratory tract infections (HP:0002788): An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis). Evidence: PCS. Frequency: 1/1. (PMID:35464398)
- Decreased circulating IgA concentration (HP:0002720): Decreased levels of immunoglobulin A (IgA). Evidence: PCS. Frequency: 3/4. (PMID:33876203)