- Chronic lung disease (HP:0006528): According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities. Evidence: PCS. Frequency: 2/3. (PMID:27242165)
- Persistent EBV viremia (HP:0020072): Persistent or recurrent detection of Epstein-Barr virus (EBV) in the blood that occurs in the context of unusual susceptibility to infection. Evidence: PCS. Frequency: 1/3. (PMID:27242165)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 5/8. (PMID:27242165;PMID:27522155)
- 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: PCS. Frequency: 2/3. (PMID:27242165)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: PCS. Frequency: 2/5. (PMID:27522155)
- Recurrent infections (HP:0002719): Increased susceptibility to infections as manifested by repeated bouts of infection. Evidence: PCS. Frequency: 5/5. (PMID:27242165;PMID:27522155)
- Immune dysregulation (HP:0002958): Altered immune function characterized by lymphoid proliferation, immune activation, and excessive autoreactivity often leading to autoimmune/inflammatory complications. Evidence: PCS. (PMID:27522155)
- Lymphadenopathy (HP:0002716): Enlargement (swelling) of a lymph node. Evidence: PCS. Frequency: 3/3. (PMID:27242165)
- Decreased total lymphocyte count (HP:0001888): A reduced number of lymphocytes in the blood. Evidence: PCS. Frequency: 2/3. (PMID:27242165)
- Recurrent pneumonia (HP:0006532): An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia. Evidence: PCS. Frequency: 3/3. (PMID:27242165)
- Death in infancy (HP:0001522): Death within the first 24 months of life. Evidence: PCS. Frequency: 1/3. (PMID:27242165)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: PCS. Frequency: 3/3. (PMID:27242165)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 3/5. (PMID:27522155)
- 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: PCS. Frequency: 5/5. (PMID:27522155)
- Decreased circulating immunoglobulin concentration (HP:0004313): An abnormally decreased level of immunoglobulin in blood. Evidence: PCS. Frequency: 2/3. (PMID:27242165)
- Bronchiectasis (HP:0002110): Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways. Evidence: PCS. Frequency: 2/3. (PMID:27242165)
- Persistent CMV viremia (HP:0032247): Persistent or recurrent detection of cytomegalovirus (CMV) in the blood that occurs in the context of unusual susceptibility to infection. Evidence: PCS. Frequency: 3/3. (PMID:27242165)
- Abnormal T cell proliferation (HP:0031379): Any abnormality in the multiplication or reproduction of T cells, which results in the expansion of a cell population. Evidence: PCS. Frequency: 5/5. (PMID:27522155)
- Abnormal total B cell count (HP:0010975): The absolute number of B cells in the blood, per microlitre is outside the limits of normal of the reference range for the appropriate sex and age-group. Evidence: PCS. Frequency: 0/5. (PMID:27522155)
- Death in childhood (HP:0003819): Death in during childhood, defined here as between the ages of 2 and 10 years. Evidence: PCS. Frequency: 1/3. (PMID:27242165)
- Increased gamma-delta T cell proportion (HP:0500270): Abnormal increase of TCR gamma/delta positive 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. Evidence: PCS. Frequency: 3/3. (PMID:27242165)
- Abnormal total natural killer cell count (HP:0040089): Abnormal increase or decrease of total natural killer (NK) cells, commonly characterized as CD3-CD19- and CD16+ or CD56+ lymphocytes, in the blood, per microlitre, or altered NK cell phenotype, compared to a reference range for a given sex and age-group, measured ex vivo. Evidence: PCS. Frequency: 0/5. (PMID:27522155)
- 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:27242165)
- Autoimmune thrombocytopenia (HP:0001973): The presence of thrombocytopenia in combination with detection of antiplatelet antibodies. Evidence: PCS. Frequency: 2/3. (PMID:27242165)
- Coombs-positive hemolytic anemia (HP:0004844): A type of hemolytic anemia in which the Coombs test is positive. Evidence: PCS. Frequency: 2/3. (PMID:27242165)
- Decreased circulating IgA concentration (HP:0002720): Decreased levels of immunoglobulin A (IgA). Evidence: PCS. Frequency: 3/3. (PMID:27522155)
- 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:27242165)
These phenotypes are associated with the disease severe combined immunodeficiency due to LAT deficiency (OMIM:617514).