- Recurrent sepsis (HP:0025067): Repeated bouts of sepsis, defined as life-threatening organ dysfunction caused by a dysregulated host response to infection. Evidence: PCS. Frequency: 1/1. (PMID:11047757)
- 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: 1/1. (PMID:11047757)
- Hypopigmentation of the skin (HP:0001010): A reduction of skin color related to a decrease in melanin production and deposition. Evidence: PCS. Frequency: 1/1. (PMID:11047757)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 2/4. (PMID:11047757)
- Bacteremia (HP:0031864): Presence of viable bacteria in the blood. Evidence: PCS. Frequency: 1/1. (PMID:11047757)
- Sparse eyebrow (HP:0045075): Decreased density/number of eyebrow hairs. Evidence: PCS. Frequency: 1/1. (PMID:11047757)
- Unusual infectious osteomyelitis (HP:5210278): Increased susceptibility to osteomyelitis of infectious aetiology, as manifested by recurrent or severe bone infection, multifocal osteomyelitis, or osteomyelitis caused by an atypical or opportunistic organism. Evidence: PCS. Frequency: 1/1. (PMID:11047757)
- Dry skin (HP:0000958): Skin characterized by the lack of natural or normal moisture. Evidence: PCS. Frequency: 1/1. (PMID:11047757)
- Unusual molluscum contagiosum (HP:0032163): Molluscum contagiosum is a cutaneous viral infection that is commonly observed in both healthy and immunocompromised children. The infection is caused by a member of the Poxviridae family, the molluscum contagiosum virus. Molluscum contagiosum presents as single or multiple small white or flesh-colored papules that typically have a central umbilication. The central umbilication may be difficult to observe in young children and, instead, may bear an appearance similar to an acneiform eruption. The lesions vary in size (from 1 mm to 1 cm in diameter) and are painless, although a subset of patients report pruritus in the area of infection. On average, 11-20 papules appear on the body during the course of infection and generally remains a self-limiting disease. However, in immunosuppressed patients, molluscum contagiosum can be a severe infection with hundreds of lesions developing on the body. Extensive eruption is indicative of an advanced immunodeficiency state. Evidence: PCS. Frequency: 3/8. (PMID:15100680;PMID:20499091)
- Bacterial cellulitis (HP:5210231): A cellulitis caused by bacterial infection of the dermis and subcutaneous tissue, with common causative organisms including Streptococcus pyogenes and Staphylococcus aureus. Evidence: PCS. Frequency: 1/1. (PMID:11047757)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/4. (PMID:11047757)
- Unusual mycobacterial infection (HP:5210110): Increased susceptibility to mycobacterial infections as manifested by recurrent or severe/disseminated infection with mycobacterial organisms, including Mycobacterium tuberculosis, non-tuberculous mycobacteria (NTM), or BCG. Evidence: PCS. Frequency: 1/1. (PMID:11047757)
- Conical incisor (HP:0011065): An abnormal conical morphology of the incisor tooth. Evidence: IEA. Frequency: 1/1. (PMID:20499091)
- Lymphedema (HP:0001004): Localized fluid retention and tissue swelling caused by a compromised lymphatic system. Evidence: PCS. Frequency: 1/1. (PMID:20499091)
- Decreased circulating IgG concentration (HP:0004315): An abnormally decreased level of immunoglobulin G (IgG) in blood. Evidence: PCS. Frequency: 2/2. (PMID:11047757)
- Increased total B cell count (HP:0005404): The absolute number of B cells in the blood, per microlitre is above the upper limit of normal of the reference range for the appropriate sex and age-group. Evidence: PCS. Frequency: 1/1. (PMID:11047757)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 1/4. (PMID:11047757)
- Decreased neutrophil oxidative burst (HP:0003203): Abnormal decrease of neutrophil oxidative burst, commonly measured through oxidation of dihydrorhodamine (DHR) using flow cytometry or through nitroblue tetrazolium test (NBT) using optical microscopy, upon stimulation with phorbol-12-myristate-13-acetate (PMA), E. coli or other ligands. Evidence: PCS. Frequency: 0/1. (PMID:11047757)
- Anhidrosis (HP:0000970): Inability to sweat. Evidence: PCS. Frequency: 2/2. (PMID:11047757)
- Complete or near-complete absence of specific antibody response to unconjugated pneumococcus polysaccharide (HP:0410300): The inability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination. Evidence: PCS. Frequency: 2/2. (PMID:11047757)
- Bronchiectasis (HP:0002110): Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways. Evidence: PCS. Frequency: 2/2. (PMID:11047757)
- Recurrent Giardia lamblia infection (HP:5210126): Increased susceptibility to Giardia lamblia infections as manifested by recurrent episodes of Giardia lamblia infection. Evidence: PCS. Frequency: 1/1. (PMID:11047757)
- Ectodermal dysplasia (HP:0000968): Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands. Evidence: PCS. (PMID:20499091)
- Recurrent bacterial meningitis (HP:0007274): An increased susceptibility to bacterial meningitis as manifested by a medical history of recurrent episodes of bacterial meningitis. Evidence: PCS. Frequency: 1/1. (PMID:11047757)
- 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:27368913)
- Cellulitis (HP:0100658): A bacterial infection and inflammation of the skin und subcutaneous tissues. Evidence: PCS. Frequency: 1/1. (PMID:11047757)
- Periorbital wrinkles (HP:0000607). Evidence: PCS. Frequency: 1/1. (PMID:11047757)
- Peg-shaped maxillary lateral incisors (HP:0006342): A tooth crown with its mesial and distal sides converging or tapering toward the incisal edge causing severe reduction of mesiodistal diameter. Evidence: PCS. Frequency: 1/1. (PMID:11047757)
- Hypohidrosis (HP:0000966): Abnormally diminished capacity to sweat. Evidence: PCS. Frequency: 2/2. (PMID:11047757)
- Partial absence of specific antibody response to tetanus vaccine (HP:0410297): A reduced ability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination. Evidence: PCS. Frequency: 0/1. (PMID:11047757)
- Increased circulating IgM concentration (HP:0003496): An abnormally increased level of immunoglobulin M in blood. Evidence: PCS. Frequency: 6/11. (PMID:15100680;PMID:11047757;PMID:20499091)
- Absent circulating isohemagglutinin (HP:0410293): Absent or undetectable level of isohemagglutinin. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person). Evidence: PCS. Frequency: 1/1. (PMID:11047757)
- Aplasia of the eccrine sweat glands (HP:0040042). Evidence: PCS. Frequency: 1/1. (PMID:20499091)
- Sparse hair (HP:0008070): Reduced density of hairs. Evidence: PCS. Frequency: 2/2. (PMID:11047757;PMID:20499091)
- Abnormal natural killer cell physiology (HP:0012177): Abnormal response of natural killer (NK) cells to stimuli. Evidence: PCS. Frequency: 7/7. (PMID:15100680)
- Osteopetrosis (HP:0011002): Abnormally increased formation of dense trabecular bone tissue. Despite the increased density of bone tissue, osteopetrotic bones tend to be more fracture-prone than normal. Evidence: PCS. Frequency: 1/1. (PMID:11047757)
- Severe cytomegalovirus infection (HP:0031692): An unusually severe infection by cytomegalovirus. Evidence: PCS. Frequency: 1/7. (PMID:15100680)
- Severe Pseudomonas aeruginosa infection (HP:5210056): Increased susceptibility to Pseudomonas aeruginosa infections as manifested by a severe or invasive infection with Pseudomonas aeruginosa. Evidence: PCS. Frequency: 1/1. (PMID:11047757)
- Recurrent bacterial infections (HP:0002718): Increased susceptibility to bacterial infections as manifested by recurrent episodes of bacterial infection. Evidence: PCS. Frequency: 1/1. (PMID:11047757)
- Recurrent bacterial infections (HP:0002718): Increased susceptibility to bacterial infections as manifested by recurrent episodes of bacterial infection. Evidence: PCS. Frequency: 1/1. (PMID:20499091)
- Recurrent bacterial infections (HP:0002718): Increased susceptibility to bacterial infections as manifested by recurrent episodes of bacterial infection. Evidence: PCS. Frequency: 7/7. Onset: Infantile onset (HP:0003593). (PMID:15100680)
- Granulomatosis (HP:0002955): A granulomatous inflammation leading to multiple granuloma formation, which is a specific type of inflammation. A granuloma is a focal compact collection of inflammatory cells, mononuclear cells predominating, usually as a result of the persistence of a non-degradable product and of active cell mediated hypersensitivity. Evidence: PCS. Frequency: 1/1. (PMID:11047757)
- Recurrent pneumonia (HP:0006532): An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia. Evidence: PCS. Frequency: 1/1. (PMID:11047757)
- Conical primary incisor (HP:0011082): An abnormal conical morphology of the primary incisor. Evidence: PCS. Frequency: 1/1. (PMID:11047757)
- Viral meningitis (HP:5210216): A meningitis caused by viral infection, with common causative organisms including herpes simplex virus, varicella-zoster virus, enterovirus, and CMV. A recurrent or chronic viral meningitis (particularly chronic enteroviral meningoencephalitis) can be a manifestation of unusual susceptibility to infection. Evidence: PCS. Frequency: 1/1. (PMID:11047757)
- Bacterial meningitis (HP:5210217): A meningitis caused by bacterial infection, with common causative organisms including Streptococcus pneumoniae, Neisseria meningitidis, and Haemophilus influenzae type b. A recurrent or invasive bacterial meningitis with encapsulated organisms can be a manifestation of unusual susceptibility to infection, particularly in antibody deficiencies, complement deficiencies, and asplenia. Evidence: PCS. Frequency: 1/1. (PMID:11047757)
- Conical tooth (HP:0000698): An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally. Evidence: PCS. Frequency: 2/2. (PMID:11047757)
- Abnormal circulating IgG concentration (HP:0410242): An abnormal deviation from normal levels of IgG immunoglobulin in blood. Evidence: PCS. (PMID:15100680)
- Reduced circulating CH50 activity (HP:0025434): A diminished activity of the classical complement pathway as measured by the assay for 50% haemolytic complement (CH50) activity of serum. Evidence: PCS. Frequency: 0/2. (PMID:11047757)
- Abnormal circulating IgM concentration (HP:0410243): An abnormal deviation from normal levels of IgM immunoglobulin in blood. Evidence: PCS. Frequency: 0/1. (PMID:11047757)
- Abnormal circulating IgE concentration (HP:0410241): An abnormal deviation from normal levels of IgE immunoglobulin in blood. Evidence: PCS. Frequency: 0/1. (PMID:11047757)
- Increased circulating IgA concentration (HP:0003261): An abnormally increased level of immunoglobulin A in blood. Evidence: PCS. Frequency: 7/8. (PMID:15100680;PMID:11047757)
- Pneumonia (HP:0002090): Inflammation of any part of the lung parenchyma. Evidence: PCS. Frequency: 1/1. (PMID:11047757)
- Abnormality of the scalp hair (HP:0100037): An abnormality of the hair of head. Evidence: PCS. Frequency: 0/1. (PMID:11047757)
- Decreased mitogen-induced T-cell proliferation (HP:0031381): Abnormal decrease of T cell proliferation in response to mitogenic stimuli. This is commonly measured through intracellular expression of Ki67, decreasing surface expression of carboxyfluorescein diacetate (CFSE), or 3H-thymidine incorporation. Length of incubation, specific stimulus and strength of stimulation may vary between laboratories. Evidence: PCS. Frequency: 0/1. (PMID:11047757)
- Hypodontia (HP:0000668): The absence of five or less teeth from the normal series by a failure to develop. Evidence: PCS. Frequency: 3/3. (PMID:11047757)
- Sparse scalp hair (HP:0002209): Decreased number of hairs per unit area of skin of the scalp. Evidence: PCS. Frequency: 2/3. (PMID:11047757)
- Recurrent cutaneous abscess formation (HP:0100838): An increased susceptibility to cutaneous abscess formation, as manifested by a medical history of recurrent cutaneous abscesses. Evidence: PCS. Frequency: 1/1. (PMID:11047757)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: PCS. Frequency: 2/2. (PMID:11047757;PMID:20499091)
- Decreased circulating IgG2 concentration (HP:0008348): A reduction in immunoglobulin levels of the IgG2 subclass in the blood circulation. Evidence: PCS. Frequency: 1/1. (PMID:11047757)
- Decreased circulating IgA concentration (HP:0002720): Decreased levels of immunoglobulin A (IgA). Evidence: PCS. Frequency: 2/2. (PMID:11047757)
- 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: PCS. (PMID:20499091)
These phenotypes are associated with the disease ectodermal dysplasia and immunodeficiency 1 (OMIM:300291).