- 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. (OMIM:602450)
- Increased circulating IgE concentration (HP:0003212): An abnormally increased overall level of immunoglobulin E in blood. Evidence: PCS. Frequency: 1/1. (PMID:15731174)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 2/2. (PMID:15731174;PMID:34220820)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: PCS. Frequency: 1/1. (PMID:15731174)
- Absent tonsils (HP:0030813): Lack of observable tonsillar tissue. Evidence: TAS. (OMIM:602450)
- 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: PCS. Frequency: 1/1. (PMID:34220820)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: PCS. Frequency: 2/2. (PMID:15731174;PMID:34220820)
- Sepsis (HP:0100806): Sepsis is defined as life-threatening organ dysfunction caused by a dysregulated host response to infection. Evidence: PCS. Frequency: 1/1. (PMID:15731174)
- Decreased total lymphocyte count (HP:0001888): A reduced number of lymphocytes in the blood. Evidence: PCS. Frequency: 1/1. (PMID:34220820)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: PCS. Frequency: 1/1. (PMID:15731174)
- Lymph node hypoplasia (HP:0002732): Underdevelopment of the lymph nodes. Evidence: IEA. (OMIM:602450)
- Genital ulcers (HP:0003249). Evidence: IEA. (OMIM:602450)
- Increased total eosinophil count (HP:0001880): Increased count of eosinophils in the blood. Evidence: PCS. Frequency: 1/1. (PMID:15731174)
- Oral ulcer (HP:0000155): Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue. Evidence: IEA. (OMIM:602450)
- BCGitis (HP:0020086): Local or regional infection with Bacillus Calmette-Guerin (BCG) following vaccination. Evidence: PCS. Frequency: 1/1. (PMID:15731174)
- Severe combined immunodeficiency (HP:0004430): A type of primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems. Evidence: PCS. (PMID:15731174)
- Alopecia of scalp (HP:0002293). Evidence: PCS. Frequency: 1/1. (PMID:15731174)
- Pneumonia (HP:0002090): Inflammation of any part of the lung parenchyma. Evidence: IEA. (OMIM:602450)
- Decreased total B cell count (HP:0010976): The absolute number of B cells in the blood, per microlitre is below the lower limit of normal of the reference range for the appropriate sex and age-group. Evidence: PCS. Frequency: 1/1. (PMID:15731174)
- Erythematous papule (HP:0030350): A circumscribed, solid elevation of skin with no visible fluid that is reddish (erythematous) in color. Evidence: PCS. Frequency: 1/1. (PMID:15731174)
- 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:15731174)
- Generalized lymphadenopathy (HP:0008940): A generalized form of lymphadenopathy. Evidence: PCS. Frequency: 1/1. (PMID:15731174)
- Recurrent upper respiratory tract infections (HP:0002788): An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis). Evidence: IEA. (OMIM:602450)
- Otitis media (HP:0000388): Inflammation or infection of the middle ear. Evidence: IEA. (OMIM:602450)
- Panhypogammaglobulinemia (HP:0003139): A reduction in the circulating levels of all the major classes of immunoglobulin. is characterized by profound decreases in all classes of immunoglobulin with an absence of circulating B lymphocytes. Evidence: IEA. (OMIM:602450)
- Chronic diarrhea (HP:0002028): The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks. Evidence: PCS. Frequency: 1/1. (PMID:34220820)
These phenotypes are associated with the disease severe combined immunodeficiency due to DCLRE1C deficiency (OMIM:602450).