- Vitiligo (HP:0001045). Evidence: PCS. Frequency: 4/21. (PMID:22236196)
- 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: 12/27. (PMID:22236196)
- Cold urticaria (HP:0410135): Urticaria may be caused by cold temperatures. Evidence: PCS. Frequency: 27/27. (PMID:22236196)
- Asthma (HP:0002099): Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing. Evidence: PCS. Frequency: 9/21. (PMID:19910034)
- Antinuclear antibody positivity (HP:0003493): The presence of autoantibodies in the serum that react against nuclei or nuclear components. Evidence: PCS. Frequency: 13/21. (PMID:22236196)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. (PMID:19910034)
- Allergic rhinitis (HP:0003193): It is characterized by one or more symptoms including sneezing, itching, nasal congestion, and rhinorrhea. Evidence: PCS. Frequency: 9/21. (PMID:22236196)
- Erythema (HP:0010783): Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin. Evidence: PCS. Frequency: 20/20. (PMID:19910034)
- Presyncope (HP:0031972): Presyncope is a state of lightheadedness, muscular weakness, blurred vision, and feeling faint. Presyncope is most often cardiovascular in cause. Evidence: PCS. Frequency: 12/20. (PMID:19910034)
- Dermatographic urticaria (HP:0011971): An exaggerated whealing tendency when the skin is stroked, that is, formation of red, itchy bumps and lines on the skin as a result of pressure on the skin (for instance, stroking the skin with a pen or tongue depressor). Evidence: PCS. Frequency: 1/5. (PMID:19910034)
- Unusual fungal nail infection (HP:0012203): Increased susceptibility to fungal infection of the nail apparatus (onychomycosis), as manifested by recurrent or severe infection of the nail plate, nail bed, or nail matrix caused by fungal organisms. Causative agents include dermatophytes (Trichophyton species) and Candida species. Evidence: PCS. Frequency: 2/21. (PMID:22236196)
- Angioedema (HP:0100665): Rapid swelling (edema) of the dermis, subcutaneous tissue, mucosa and submucosal tissues of the skin of the face, normally around the mouth, and the mucosa of the mouth and/or throat, as well as the tongue during a period of minutes to several hours. The swelling can also occur elsewhere, typically in the hands. Angioedema is similar to urticaria, but the swelling is subcutaneous rather than on the epidermis. Evidence: PCS. Frequency: 6/20. (PMID:19910034)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. (PMID:19910034)
- Allergy (HP:0012393): An allergy is an immune response or reaction to substances that are usually not harmful. Evidence: PCS. Frequency: 15/27. (PMID:22236196)
- Recurrent otitis media (HP:0000403): Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. Evidence: PCS. Frequency: 6/21. (PMID:22236196)
- Pruritus (HP:0000989): Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus. Evidence: PCS. Frequency: 20/20. (PMID:19910034)
- Hashimoto thyroiditis (HP:0000872): A chronic, autoimmune type of thyroiditis associated with hypothyroidism. Evidence: PCS. Frequency: 2/21. (PMID:22236196)
- 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:19910034)
These phenotypes are associated with the disease familial cold autoinflammatory syndrome 3 (OMIM:614468).