- Eczematoid dermatitis (HP:0000964): Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83471)
- Aplasia of the thymus (HP:0005359): Absence of the thymus. This feature may be appreciated by the lack of a thymic shadow upon radiographic examination. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:83471)
- Recurrent infections (HP:0002719): Increased susceptibility to infections as manifested by repeated bouts of infection. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:83471)
- Severe T-cell immunodeficiency (HP:0005352): A primary immune deficiency that is characterized by defects or deficiencies of T-lymphocytes that causes specific susceptibility to intracellular micro-organisms. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:83471)
- Cellular immunodeficiency (HP:0005374): An immunodeficiency characterized by defective cell-mediated immunity or humoral immunity. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:83471)
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:83471)
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:83471)
- Decreased naive T cell proportion (HP:0031397): An abnormally decreased proportion of naive T cells relative to the total number of T cells. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:83471)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:83471)
- Pneumonia (HP:0002090): Inflammation of any part of the lung parenchyma. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:83471)
- Recurrent bacterial infections (HP:0002718): Increased susceptibility to bacterial infections as manifested by recurrent episodes of bacterial infection. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:83471)
- Autoimmunity (HP:0002960): The occurrence of an immune reaction against the organism's own cells or tissues. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:83471)
- Recurrent infection of the gastrointestinal tract (HP:0004798): Recurrent infection of the gastrointestinal tract. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:83471)
- Opportunistic infection (HP:0031690): An infection that is caused by a pathogen that would generally not be able to cause an infection in a host with a normal immune system. Such pathogens take advantage of the opportunity, so to speak, that is provided by a weakened immune system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:83471)
- Severe viral infection (HP:0031691): An unusually severe viral infection. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:83471)
- Severe infection (HP:0032169): A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:83471)
- Recurrent urinary tract infections (HP:0000010): Repeated infections of the urinary tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83471)
- Sinusitis (HP:0000246): Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83471)
- Chronic otitis media (HP:0000389): Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83471)
- Hypothyroidism (HP:0000821): Deficiency of thyroid hormone. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83471)
- Meningitis (HP:0001287): Inflammation of the meninges. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83471)
- Diarrhea (HP:0002014): Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83471)
- Malabsorption (HP:0002024): Impaired ability to absorb one or more nutrients from the intestine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83471)
- Lymphadenopathy (HP:0002716): Enlargement (swelling) of a lymph node. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83471)
- Recurrent Staphylococcus aureus infection (HP:0002726): Increased susceptibility to Staphylococcus aureus infections as manifested by recurrent episodes of Staphylococcus aureus infection. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83471)
- Hypocalcemic tetany (HP:0003472): Hyperexcitability of the neuromuscular system related to abnormally low level of calcium in the blood, resulting in carpopedal or generalized spasms. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83471)
- Coombs-positive hemolytic anemia (HP:0004844): A type of hemolytic anemia in which the Coombs test is positive. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83471)
- Recurrent streptococcus pneumoniae infections (HP:0005366): Increased susceptibility to streptococcus pneumoniae infections as manifested by a history of recurrent infections by streptococcus pneumoniae. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83471)
- Combined immunodeficiency (HP:0005387): A group of phenotypically heterogeneous genetic disorders characterized by profound deficiencies of T- and B-cell function, which predispose the patients to both infectious and noninfectious complications. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83471)
- Recurrent Candida infection (HP:0005401): Increased susceptibility to Candida infections as manifested by recurrent episodes of Candida infection. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83471)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83471)
- Invasive fungal infection (HP:0020101): Fungal infection characterized by invasion of host tissues. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83471)
- Oligoclonal T cell expansion (HP:0031430): The presence of a population of T cells with a restricted T cell receptor (TCR) repertoire derived from a limited number of TCR clones. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83471)
- Thyroiditis (HP:0100646): Inflammation of the thyroid gland. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83471)
- Sepsis (HP:0100806): Sepsis is defined as life-threatening organ dysfunction caused by a dysregulated host response to infection. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83471)
- Atypical or prolonged hepatitis (HP:0200122). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83471)
These phenotypes are associated with the disease T-cell immunodeficiency with thymic aplasia (ORPHA:83471).