- Glomerulonephritis (HP:0000099): Inflammation of the renal glomeruli. Evidence: PCS. Frequency: 1/1. (PMID:20237408)
- Stage 5 chronic kidney disease (HP:0003774): A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine. Evidence: PCS. Frequency: 1/1. (PMID:20237408)
- Complete or near-complete absence of specific antibody response to tetanus vaccine (HP:0410295): The inability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination. Evidence: PCS. Frequency: 1/1. (PMID:20237408)
- Abnormal total T cell number (HP:0011839): Abnormal increase or decrease of absolute number (either count per volume or proportion of total lymphocytes) of T cells or of a subset of T cells, commonly characterized as CD3+ lymphocytes, in the 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: PCS. Frequency: 0/1. (PMID:20237408)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: PCS. Frequency: 1/1. (PMID:20237408)
- Chronic decreased circulating total IgG concentration (HP:0032134): A lasting reduction beneath the normal level of total immunoglobulin G (IgG) in the blood. Evidence: PCS. Frequency: 1/1. (PMID:20237408)
- Macroscopic hematuria (HP:0012587): Hematuria that is visible upon inspection of the urine. Evidence: PCS. Frequency: 1/1. (PMID:20237408)
- Abnormal total B cell count (HP:0010975): The absolute number of B cells in the blood, per microlitre is outside the limits of normal of the reference range for the appropriate sex and age-group. Evidence: PCS. Frequency: 0/1. (PMID:20237408)
- Mesangial Immune complex deposition (HP:0033295): Extracellular meangial accumulation of finely granular material corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry; most typically electron-dense although this may decrease with resorption of the deposit. Evidence: PCS. Frequency: 1/1. (PMID:20237408)
- Decreased circulating specific pneumococcal antibody concentration (HP:0012476): The concentration in the blood circulation of specific immunoglobulins directed against pneumococci is below the lower limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:20237408)
- Arthralgia (HP:0002829): Joint pain. Evidence: PCS. Frequency: 1/1. (PMID:20237408)
- Purpura (HP:0000979): Purpura (from Latin: purpura, meaning purple) is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae. Evidence: PCS. Frequency: 1/1. (PMID:20237408)
- Nephrotic range proteinuria (HP:0012593): Severely increased amount of excretion of protein in the urine, defined as 3.5 grams per day or more in adults and 40 mg per meter-squared body surface area per hour in children. Evidence: PCS. Frequency: 1/1. (PMID:20237408)
- Recurrent bacterial infections (HP:0002718): Increased susceptibility to bacterial infections as manifested by recurrent episodes of bacterial infection. Evidence: PCS. Frequency: 1/1. (OMIM:613496)
- 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:20237408)
- Autoimmune thrombocytopenia (HP:0001973): The presence of thrombocytopenia in combination with detection of antiplatelet antibodies. Evidence: PCS. Frequency: 1/1. (PMID:20237408)
- Recurrent respiratory infections (HP:0002205): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: PCS. Frequency: 1/1. (PMID:20237408)
- Enlarged kidney (HP:0000105): An abnormal increase in the size of the kidney. Evidence: PCS. Frequency: 1/1. (PMID:20237408)
- Hydronephrosis (HP:0000126): Severe distention of the kidney with dilation of the renal pelvis and calices. Evidence: PCS. Frequency: 1/1. (PMID:20237408)
These phenotypes are associated with the disease immunodeficiency, common variable, 6 (OMIM:613496).