Phenotypes associated with the disease TCR-alpha-beta-positive T-cell deficiency (OMIM:615387):
- Autoimmunity (HP:0002960): The occurrence of an immune reaction against the organism's own cells or tissues. Evidence: PCS. Frequency: 2/2. (PMID:21206088)
- Diarrhea (HP:0002014): Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. Evidence: PCS. Frequency: 2/2. (PMID:21206088)
- Vitiligo (HP:0001045). Evidence: PCS. Frequency: 1/2. (PMID:21206088)
- Patchy alopecia (HP:0002232): Transient, non-scarring hair loss and preservation of the hair follicle located in in well-defined patches. Evidence: PCS. Frequency: 1/2. (PMID:21206088)
- 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: 1/2. (PMID:21206088)
- Autoimmune hemolytic anemia (HP:0001890): An autoimmune form of hemolytic anemia. Evidence: PCS. Frequency: 1/2. (PMID:21206088)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 1/2. (PMID:21206088)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: PCS. Frequency: 2/2. (PMID:21206088)
- Severe varicella zoster infection (HP:0032170): An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterized by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestations including VZV pneumonia, hepatitis, meningitis, and disseminated varicella. Evidence: PCS. Frequency: 1/2. (PMID:21206088)
- Severely increased total eosinophil count (HP:0032061): Severe increase in circulating eosinophils, usually characterized as more than 1500 eosinophils per microlitre. Evidence: PCS. Frequency: 1/2. (PMID:21206088)
- 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: PCS. Frequency: 2/2. (PMID:21206088)
- 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:21206088)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/2. (PMID:21206088)
- 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:21206088)
- Lymphadenopathy (HP:0002716): Enlargement (swelling) of a lymph node. Evidence: PCS. Frequency: 2/2. (PMID:21206088)
- Recurrent otitis media (HP:0000403): Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. Evidence: PCS. Frequency: 2/2. (PMID:21206088)
- Recurrent respiratory infections (HP:0002205): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: PCS. Frequency: 2/2. (PMID:21206088)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: PCS. Frequency: 1/2. (PMID:21206088)
- Decreased total neutrophil count (HP:0001875): Abnormal decrease of absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group. Evidence: PCS. Frequency: 2/2. (PMID:21206088)