- Decreased neutrophil oxidative burst (HP:0003203): Abnormal decrease of neutrophil oxidative burst, commonly measured through oxidation of dihydrorhodamine (DHR) using flow cytometry or through nitroblue tetrazolium test (NBT) using optical microscopy, upon stimulation with phorbol-12-myristate-13-acetate (PMA), E. coli or other ligands. Evidence: PCS. Frequency: 1/1. (PMID:33231617)
- Decreased class-switched memory B cell proportion (HP:0030388): A reduction in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA. Evidence: PCS. Frequency: 1/1. (PMID:33231617)
- Autoimmune hemolytic anemia (HP:0001890): An autoimmune form of hemolytic anemia. Evidence: PCS. Frequency: 1/1. (PMID:33231617)
- Decreased antigen-specific T cell proliferation (HP:0031402): Impaired proliferation and expansion of a T cell population following activation by an antigenic stimulus. Evidence: PCS. Frequency: 1/1. (PMID:33231617)
- 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:33231617)
- 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: 1/1. (PMID:33231617)
- Abnormal natural killer cell physiology (HP:0012177): Abnormal response of natural killer (NK) cells to stimuli. Evidence: PCS. Frequency: 1/1. (PMID:33231617)
- Recurrent infections (HP:0002719): Increased susceptibility to infections as manifested by repeated bouts of infection. Evidence: PCS. Frequency: 1/1. (PMID:33231617)
- Impaired collagen-induced platelet aggregation (HP:0008320): Abnormal response to collagen or collagen-mimetics as manifested by reduced or lacking aggregation of platelets upon addition collagen or collagen-mimetics. Evidence: PCS. Frequency: 1/1. (PMID:33231617)
- 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:33231617)
- Petechiae (HP:0000967): Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae. Evidence: PCS. Frequency: 1/1. (PMID:33231617)
- Skin rash (HP:0000988): A red eruption of the skin. Evidence: PCS. Frequency: 1/1. (PMID:33231617)
- Recurrent cutaneous abscess formation (HP:0100838): An increased susceptibility to cutaneous abscess formation, as manifested by a medical history of recurrent cutaneous abscesses. Evidence: PCS. Frequency: 1/1. (PMID:33231617)
- Impaired neutrophil chemotaxis (HP:0040238): An impairment of the migration of neutrophils towards chemoattractants as part of the innate immune response. Evidence: PCS. Frequency: 1/1. (PMID:33231617)
- Abscess (HP:0025615): An abscess is a localized collection of purulent material surrounded by inflammation and granulation. Evidence: PCS. Frequency: 1/1. (PMID:33231617)
- Immunodeficiency (HP:0002721): Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance. Evidence: PCS. Frequency: 1/1. (PMID:33231617)
These phenotypes are associated with the disease immunodeficiency 81 (OMIM:619374).