- Decreased total CD4+ T cell proportion (HP:0032218): Abnormal decrease of helper CD3+CD4+ T cells, measured as percentage of total CD3+ T cells in the blood, compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:276)
- Decreased total lymphocyte count (HP:0001888): A reduced number of lymphocytes in the blood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:276)
- Recurrent fever (HP:0001954): Periodic (episodic or recurrent) bouts of fever. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:276)
- Pneumonia (HP:0002090): Inflammation of any part of the lung parenchyma. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:276)
- Abnormal circulating immunoglobulin concentration (HP:0010701): An abnormal deviation from normal levels of immunoglobulins in blood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:276)
- 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:276)
- 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:276)
- Reduced total natural killer cell count (HP:0040218): The absolute count of natural killer cells in the blood, per microlitre, is below the lower limit of normal. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:276)
- Skin rash (HP:0000988): A red eruption of the skin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:276)
- Diarrhea (HP:0002014): Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:276)
- 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:276)
- Decreased circulating IgA concentration (HP:0002720): Decreased levels of immunoglobulin A (IgA). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:276)
- Decreased circulating IgG concentration (HP:0004315): An abnormally decreased level of immunoglobulin G (IgG) in blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:276)
- Recurrent opportunistic infections (HP:0005390): Increased susceptibility to opportunistic infections as manifested by recurrent episodes of infection by opportunistic agents, i.e., by microorganisms that do not usually cause disease in a healthy host, but are able to infect a host with a compromised immune system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:276)
- Cough (HP:0012735): A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:276)
- Abnormally low T cell receptor excision circle level (HP:0031545): Reduced level of T cell receptor excision circle (TRECs) as measured by the TREC assay. Late in maturation, 70% of thymocytes that will ultimately express alpha/beta-T cell receptors form a circular DNA TREC from the excised TCRdelta gene that lies within the TCRalpha genetic locus. The circles are stable but do not increase following cell division and, therefore, become diluted as T cells proliferate. A quantitative polymerase chain reaction (PCR) reaction across the joint of the circular DNA provides the TREC copy number, a marker of newly-formed, antigenically-naïve thymic emigrant T cells. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:276)
- 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: Frequent (HP:0040282). (ORPHA:276)
- Sepsis (HP:0100806): Sepsis is defined as life-threatening organ dysfunction caused by a dysregulated host response to infection. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:276)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:276)
- Recurrent mucocutaneous candidiasis (HP:0002728): Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:276)
- Lymph node hypoplasia (HP:0002732): Underdevelopment of the lymph nodes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:276)
- Recurrent herpes (HP:0005353): Increased susceptibility to herpesvirus, as manifested by recurrent episodes of herpesvirus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:276)
- Recurrent Haemophilus influenzae infection (HP:0005376): Increased susceptibility to Haemophilus influenzae infections as manifested by recurrent episodes of Haemophilus influenzae infection. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:276)
- Recurrent bacterial skin infections (HP:0005406): Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:276)
- Severe recurrent varicella (HP:0005428). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:276)
- 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:276)
- Recurrent cutaneous fungal infections (HP:0011370): Increased susceptibility to cutaneous fungal infections as manifested by recurrent episodes of cutaneous fungal infections. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:276)
- Absent tonsils (HP:0030813): Lack of observable tonsillar tissue. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:276)
- Jaundice (HP:0000952): Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:276)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:276)
- Lymphoma (HP:0002665): A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:276)
- Increased circulating IgG concentration (HP:0003237): An abnormally increased level of immunoglobulin G in blood. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:276)
- Lymphoproliferative disorder (HP:0005523). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:276)
These phenotypes are associated with the disease T-B+ severe combined immunodeficiency due to gamma chain deficiency (ORPHA:276).