Phenotypes associated with the disease severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive (OMIM:601457):
- Meningitis (HP:0001287): Inflammation of the meninges. Evidence: IEA. (OMIM:601457)
- Diarrhea (HP:0002014): Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. Evidence: IEA. (OMIM:601457)
- 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: IEA. (OMIM:601457)
- Mastoiditis (HP:0000265): Infection of the mastoid air cells, arising as a complication of otitis media or occurring in the context of unusual susceptibility to infection. Evidence: IEA. (OMIM:601457)
- 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: TAS. (OMIM:601457)
- Pneumonia (HP:0002090): Inflammation of any part of the lung parenchyma. Evidence: IEA. (OMIM:601457)
- 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. (OMIM:601457)
- 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: IEA. (OMIM:601457)
- Purulent rhinitis (HP:0040334): Chronic rhinitis accompanied by pus formation. Evidence: IEA. (OMIM:601457)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: TAS. (OMIM:601457)
- Conjunctivitis (HP:0000509): Inflammation of the conjunctiva. Evidence: IEA. (OMIM:601457)
- 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: IEA. (OMIM:601457)
- Failure to thrive secondary to recurrent infections (HP:0008866): Insufficient weight gain or inappropriate weight loss for a child, that is attributed to an endogenous recurrent infections. Evidence: IEA. (OMIM:601457)
- Otitis media (HP:0000388): Inflammation or infection of the middle ear. Evidence: IEA. (OMIM:601457)
- Arthritis (HP:0001369): Inflammation of a joint. Evidence: IEA. (OMIM:601457)
- 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:601457)