Phenotypes associated with the disease immunodeficiency 64 (OMIM:618534):
- 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:27776107)
- Increased circulating IgM concentration (HP:0003496): An abnormally increased level of immunoglobulin M in blood. Evidence: PCS. Frequency: 2/2. (PMID:29155103)
- Autoimmune hemolytic anemia (HP:0001890): An autoimmune form of hemolytic anemia. Evidence: PCS. Frequency: 2/2. Onset: Childhood onset (HP:0011463). (PMID:29155103)
- Antinuclear antibody positivity (HP:0003493): The presence of autoantibodies in the serum that react against nuclei or nuclear components. Evidence: PCS. Frequency: 2/2. (PMID:29155103)
- Cervical lymphadenopathy (HP:0025289): Enlarged lymph nodes in the neck. Evidence: PCS. Frequency: 2/2. (PMID:29155103)
- 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: 2/2. (PMID:28822832;PMID:27776107)
- Increased CD21low B cell proportion (HP:0033207): Increased proportion relative to B-lymphocytes of a subset of B lymphocytes characterized by dim/low levels of CD21, i.e., CD21-/low, in flow cytometry, and additionally enriched in autoreactive clones as determined for instance by clonse showing rheumatoid factor (anti-IgG) reactivity and antibodies recognizing cytoplasmic and to a lesser extent nuclear structures. Evidence: PCS. Frequency: 2/2. (PMID:29155103)
- Mediastinal lymphadenopathy (HP:0100721): Swelling of lymph nodes within the mediastinum, the central compartment of the thoracic cavities that contains the heart and the great vessels, the esophagus, and trachea and other structures including lymph nodes. Evidence: PCS. Frequency: 2/2. (PMID:29155103)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: PCS. Frequency: 1/1. Onset: Infantile onset (HP:0003593). (PMID:27776107)
- Recurrent infections (HP:0002719): Increased susceptibility to infections as manifested by repeated bouts of infection. Evidence: PCS. Frequency: 2/2. (PMID:29155103)
- Abnormal CD4:CD8 ratio (HP:0031394): Any abnormality in the relative amount of CD4+ and CD8+ T lymphocytes. Evidence: PCS. Frequency: 1/1. (PMID:27776107)
- B-cell lymphoma (HP:0012191): A type of lymphoma that originates in B-cells. Evidence: PCS. Frequency: 2/2. (PMID:28822832;PMID:27776107)
- Lymphadenopathy (HP:0002716): Enlargement (swelling) of a lymph node. Evidence: PCS. Frequency: 1/1. (PMID:28822832)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: PCS. Frequency: 1/1. (PMID:28822832)
- Decreased circulating IgG concentration (HP:0004315): An abnormally decreased level of immunoglobulin G (IgG) in blood. Evidence: PCS. Frequency: 1/1. (PMID:28822832)
- Anti-thyroid peroxidase antibody positivity (HP:0025379): The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid peroxidase. Evidence: PCS. Frequency: 1/2. (PMID:29155103)
- Bronchiectasis (HP:0002110): Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways. Evidence: PCS. Frequency: 1/1. (PMID:27776107)
- Anti-thyroglobulin antibody positivity (HP:0032069): The presence of autoantibodies (immunoglobulins) in the serum that react to thyroglobulin. Evidence: PCS. Frequency: 1/2. (PMID:29155103)
- Increased circulating IgA concentration (HP:0003261): An abnormally increased level of immunoglobulin A in blood. Evidence: PCS. Frequency: 2/2. (PMID:29155103)
- 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: 1/1. (PMID:28822832)
- 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: 1/1. (PMID:27776107)
- Clubbing of fingers (HP:0100759): Terminal broadening of the fingers (distal phalanges of the fingers). Evidence: PCS. Frequency: 1/1. (PMID:27776107)
- 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:27776107)
- Autoimmune thrombocytopenia (HP:0001973): The presence of thrombocytopenia in combination with detection of antiplatelet antibodies. Evidence: PCS. Frequency: 1/2. Onset: Infantile onset (HP:0003593). (PMID:29155103)
- Hepatosplenomegaly (HP:0001433): Simultaneous enlargement of the liver and spleen. Evidence: PCS. Frequency: 2/2. (PMID:29155103)
- Increased circulating IgG concentration (HP:0003237): An abnormally increased level of immunoglobulin G in blood. Evidence: PCS. Frequency: 2/2. (PMID:29155103)