- Decreased circulating IgE concentration (HP:0005479): An abnormally decreased level of immunoglobulin E (IgE) in blood. Evidence: PCS. Frequency: 2/2. (PMID:35382780)
- Prostatitis (HP:0000024): The presence of inflammation of the prostate. Evidence: IEA. (OMIM:300755)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: IEA. (OMIM:300755)
- 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: 19/22. (PMID:30072168)
- Infectious encephalitis (HP:0002383): A disorder of the brain caused by an infectious agent that presents with fever, headache, and an altered level of consciousness. There may also be focal or multifocal neurologic deficits, and focal or generalized seizure activity. Evidence: IEA. (OMIM:300755)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 27/44. (PMID:33013854;PMID:35382780;PMID:33501616;PMID:30072168)
- Septic arthritis (HP:0003095). Evidence: IEA. (OMIM:300755)
- Recurrent infections (HP:0002719): Increased susceptibility to infections as manifested by repeated bouts of infection. Evidence: IEA. (OMIM:300755)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 13/43. (PMID:33013854;PMID:35382780;PMID:30072168)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: PCS. Frequency: 6/22. (PMID:30072168)
- Enteroviral dermatomyositis syndrome (HP:0003729). Evidence: IEA. (OMIM:300755)
- Sepsis (HP:0100806): Sepsis is defined as life-threatening organ dysfunction caused by a dysregulated host response to infection. Evidence: PCS. Frequency: 16/19. (PMID:33013854)
- Pyoderma (HP:0000999): Any manifestation of a skin disease associated with the production of pus. Evidence: IEA. (OMIM:300755)
- Cor pulmonale (HP:0001648): Right-sided heart failure resulting from chronic hypertension in the pulmonary arteries and right ventricle. Evidence: IEA. (OMIM:300755)
- Recurrent pneumonia (HP:0006532): An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia. Evidence: PCS. Frequency: 15/21. (PMID:33013854;PMID:35382780)
- Complete or near-complete absence of specific antibody response to protein-conjugated Haemophilus influenzae type b vaccine (HP:0410303): The inability 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: 1/1. (PMID:33501616)
- Lymph node hypoplasia (HP:0002732): Underdevelopment of the lymph nodes. Evidence: IEA. (OMIM:300755)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 1/19. (PMID:33013854)
- Hepatocellular carcinoma (HP:0001402): A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver. Evidence: PCS. Frequency: 1/19. Onset: Young adult onset (HP:0011462). (PMID:33013854)
- Decreased circulating IgG concentration (HP:0004315): An abnormally decreased level of immunoglobulin G (IgG) in blood. Evidence: PCS. Frequency: 2/3. (PMID:35382780;PMID:33501616)
- Meningitis (HP:0001287): Inflammation of the meninges. Evidence: IEA. (OMIM:300755)
- Decreased circulating IgM concentration (HP:0002850): An abnormally decreased level of immunoglobulin M (IgM) in blood. Evidence: PCS. Frequency: 3/3. (PMID:35382780;PMID:33501616)
- 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: 0/1. (PMID:33501616)
- Recurrent urinary tract infections (HP:0000010): Repeated infections of the urinary tract. Evidence: IEA. (OMIM:300755)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 3/41. (PMID:33013854;PMID:30072168)
- Delayed speech and language development (HP:0000750): A degree of language development that is significantly below the norm for a child of a specified age. Evidence: IEA. (OMIM:300755)
- Agammaglobulinemia (HP:0004432): A lasting absence of total IgG and total IgA and total IgM in the blood circulation, whereby at most trace quantities can be measured. Evidence: PCS. Frequency: 22/22. (PMID:30072168)
- Bronchiolitis obliterans (HP:0011946): Inflammation and fibrosis of the bronchioles leading to partial or complete obstruction of these airways. Evidence: PCS. Frequency: 2/2. (PMID:35382780)
- Bronchiectasis (HP:0002110): Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways. Evidence: PCS. Frequency: 11/19. (PMID:33013854)
- Epididymitis (HP:0000031): The presence of inflammation of the epididymis. Evidence: IEA. (OMIM:300755)
- Wheezing (HP:0030828): A high-pitched whistling sound associated with labored breathing. Evidence: PCS. Frequency: 2/2. (PMID:35382780)
- 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: 44/44. (PMID:33013854;PMID:35382780;PMID:33501616;PMID:30072168)
- Recurrent sinusitis (HP:0011108): A recurrent form of sinusitis. Evidence: PCS. Frequency: 13/19. (PMID:33013854)
- 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:7722175)
- Conjunctivitis (HP:0000509): Inflammation of the conjunctiva. Evidence: IEA. (OMIM:300755)
- Recurrent otitis media (HP:0000403): Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. Evidence: PCS. Frequency: 23/41. (PMID:33013854;PMID:30072168)
- Enteroviral hepatitis (HP:0001412): Inflammation of the liver due to infection with enterovirus. Evidence: IEA. (OMIM:300755)
- Decreased circulating IgA concentration (HP:0002720): Decreased levels of immunoglobulin A (IgA). Evidence: PCS. Frequency: 2/3. (PMID:35382780;PMID:33501616)
- 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: 8/22. (PMID:30072168)
- 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: 9/22. (PMID:30072168)
These phenotypes are associated with the disease Bruton-type agammaglobulinemia (OMIM:300755).