- Recurrent sinopulmonary infections (HP:0005425): An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections. Evidence: PCS. Frequency: 11/14. (PMID:26642240)
- Meningitis (HP:0001287): Inflammation of the meninges. Evidence: PCS. Frequency: 2/14. (PMID:26642240)
- Decreased circulating immunoglobulin concentration (HP:0004313): An abnormally decreased level of immunoglobulin in blood. Evidence: PCS. (PMID:26642240)
- Recurrent oral thrush (HP:0009098): Chronic accumulation and overgrowth of the fungus Candida albicans on the mucous membranes of the mouth, generally manifested as associated with creamy white lesions on the tongue or inner cheeks, occasionally spreading to the gums, tonsils, palate or oropharynx. Evidence: IEA. Frequency: 1/14. (PMID:26642240)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: PCS. Frequency: 4/14. (PMID:26642240)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: PCS. Frequency: 2/4. (PMID:26642240)
- Conjunctivitis (HP:0000509): Inflammation of the conjunctiva. Evidence: PCS. Frequency: 3/14. (PMID:26642240)
- Sepsis (HP:0100806): Sepsis is defined as life-threatening organ dysfunction caused by a dysregulated host response to infection. Evidence: PCS. Frequency: 5/14. (PMID:26642240)
- Autosomal recessive inheritance (HP:0000007): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:26642240)
- 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: 10/14. (PMID:26642240)
- Intermittent thrombocytopenia (HP:0004854): Reduced platelet count that occurs sporadically, i.e., it comes and goes. Evidence: PCS. Frequency: 4/4. (PMID:26642240)
- 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. (PMID:26642240)
- Immunodeficiency (HP:0002721): Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance. Evidence: IEA. (OMIM:616740)
These phenotypes are associated with the disease TFRC-related combined immunodeficiency (OMIM:616740).