- 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:275)
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:275)
- Autoimmune hemolytic anemia (HP:0001890): An autoimmune form of hemolytic anemia. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:275)
- Bronchiectasis (HP:0002110): Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:275)
- 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:275)
- Decreased circulating IgA concentration (HP:0002720): Decreased levels of immunoglobulin A (IgA). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:275)
- Decreased circulating IgG concentration (HP:0004315): An abnormally decreased level of immunoglobulin G (IgG) in blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:275)
- 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:275)
- Cutaneous abscess (HP:0031292): A circumscribed area of pus or necrotic debris in the skin (within the epidermis or dermis). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:275)
- Verrucae (HP:0200043): Warts, benign growths on the skin or mucous membranes that cause cosmetic problems as well as pain and discomfort. Warts most often occur on the hands, feet, and genital areas. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:275)
- Recurrent upper and lower respiratory tract infections (HP:0200117): Increased susceptibility to upper and lower respiratory tract infections as manifested by recurrent episodes of upper and lower respiratory tract infections. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:275)
- Cutaneous granuloma (HP:6000070): A granuloma localized to the skin, that is, a chronic inflammatory manifestation with localized aggregation of histiocytes with or without other inflammatory cells (such as plasma cells, eosinophils, or neutrophils), with or without necrosis, with or without vasculitis, with or without calcification, and with or without foreign bodies. Granulomas may be due to infection or chronic inflammatory disease or reactions to foreign material. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:275)
- Otitis media (HP:0000388): Inflammation or infection of the middle ear. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:275)
- Skin rash (HP:0000988): A red eruption of the skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:275)
- Vitiligo (HP:0001045). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:275)
- 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:275)
- Autoimmune thrombocytopenia (HP:0001973): The presence of thrombocytopenia in combination with detection of antiplatelet antibodies. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:275)
- Intractable diarrhea (HP:0002041). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:275)
- Neoplasm (HP:0002664): An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:275)
- Autoimmunity (HP:0002960): The occurrence of an immune reaction against the organism's own cells or tissues. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:275)
- Recurrent viral infections (HP:0004429): Increased susceptibility to viral infections as manifested by recurrent episodes of viral infection. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:275)
- Juvenile rheumatoid arthritis (HP:0005681). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:275)
- 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:275)
- Recurrent aphthous stomatitis (HP:0011107): Recurrent episodes of ulceration of the oral mucosa, typically presenting as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:275)
- Recurrent mycobacterial infections (HP:0011274): Increased susceptibility to mycobacterial infections as manifested by recurrent episodes of mycobacterial infection. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:275)
- Recurrent gastroenteritis (HP:0031123): Increased susceptibility to gastroenteritis, an infectious inflammationof the stomach and small intestines manifested by signs and symptoms such as diarheas and abdominal pain, as manifested by recurrent episodes of gastroenteritis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:275)
- 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: Occasional (HP:0040283). (ORPHA:275)
- Hashimoto thyroiditis (HP:0000872): A chronic, autoimmune type of thyroiditis associated with hypothyroidism. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:275)
These phenotypes are associated with the disease Severe combined immunodeficiency due to DCLRE1C deficiency (ORPHA:275).