- Pustular rash (HP:0033605): A rash composed of pustular lesions. A pustule is defined as a vesicle or bulla containing purulent material. It varies in size and may occur at different levels within the epidermis: subcorneal, intraepidermal, or basement membrane zones. The pustules may or may not be sterile and are normally filled with neutrophils. Evidence: PCS. Frequency: 9/21. (PMID:27930337)
- Abnormal lymphocyte morphology (HP:0004332): An abnormality of lymphocytes. Evidence: PCS. Frequency: 0/1. (PMID:21350122)
- Abnormal lymphocyte physiology (HP:0031409): Any anomaly of lymphocyte function. Evidence: PCS. Frequency: 0/1. (PMID:21350122)
- Pustule (HP:0200039): A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells. Evidence: PCS. Frequency: 1/1. (PMID:21350122)
- Recurrent skin infections (HP:0001581): Infections of the skin that happen multiple times. Evidence: PCS. Frequency: 1/1. (PMID:21350122)
- Pneumonia (HP:0002090): Inflammation of any part of the lung parenchyma. Evidence: PCS. Frequency: 5/21. (PMID:27930337)
- Folliculitis (HP:0025084): Inflammatory cells within the wall and ostia of the hair follicle, creating a follicular-based pustule. Evidence: PCS. Frequency: 12/22. (PMID:21350122;PMID:27930337)
- Recurrent sinusitis (HP:0011108): A recurrent form of sinusitis. Evidence: PCS. Frequency: 5/22. (PMID:21350122;PMID:27930337)
- Recurrent cutaneous fungal infections (HP:0011370): Increased susceptibility to cutaneous fungal infections as manifested by recurrent episodes of cutaneous fungal infections. Evidence: PCS. Frequency: 1/1. (PMID:21350122)
- Cutaneous abscess (HP:0031292): A circumscribed area of pus or necrotic debris in the skin (within the epidermis or dermis). Evidence: PCS. Frequency: 1/1. (PMID:21350122)
- 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: PCS. Frequency: 20/21. (PMID:27930337)
- Recurrent mucocutaneous candidiasis (HP:0002728): Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails. Evidence: PCS. Frequency: 1/1. (PMID:21350122)
- Chronic furunculosis (HP:0011132): A furuncle (boil) is a skin infection involving an entire hair follicle and nearby skin tissue. Chronic furunculosis refers to recurrent episodes of furuncles, often caused by recurrent staphylococcus infection. Evidence: PCS. Frequency: 8/22. (PMID:21350122;PMID:27930337)
- Recurrent Staphylococcus aureus infection (HP:0002726): Increased susceptibility to Staphylococcus aureus infections as manifested by recurrent episodes of Staphylococcus aureus infection. Evidence: PCS. Frequency: 1/1. (PMID:21350122)
- 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:21350122)
- Recurrent otitis media (HP:0000403): Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. Evidence: PCS. Frequency: 1/1. (PMID:21350122)
- Recurrent bronchitis (HP:0002837): An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis. Evidence: PCS. Frequency: 3/22. (PMID:21350122;PMID:27930337)
- 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: 4/21. (PMID:27930337)
- Recurrent respiratory infections (HP:0002205): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:613953)
These phenotypes are associated with the disease immunodeficiency 51 (OMIM:613953).