- Autoimmunity (HP:0002960): The occurrence of an immune reaction against the organism's own cells or tissues. Evidence: PCS. (PMID:26783323)
- Nephrotic syndrome (HP:0000100): Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia. Evidence: PCS. Frequency: 1/2. Onset: Infantile onset (HP:0003593). (PMID:26783323)
- 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:26783323)
- Colitis (HP:0002583): Colitis refers to an inflammation of the colon and is often used to describe an inflammation of the large intestine (colon, cecum and rectum). Colitides may be acute and self-limited or chronic, and broadly fit into the category of digestive diseases. Evidence: PCS. Frequency: 1/2. Onset: Childhood onset (HP:0011463). (PMID:26783323)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. (PMID:26783323)
- Increased CD4:CD8 ratio (HP:0033221): An abnormal elevation of the relative proportion of CD4+ to CD8+ T cells. Evidence: IEA. Frequency: 2/2. (PMID:26783323)
- Linear IgG deposits along the epidermal basement membrane zone (HP:0031540): Presence of IgG antibodies in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy. Evidence: PCS. Frequency: 1/1. Onset: Infantile onset (HP:0003593). (PMID:26783323)
- Impaired phytohemagglutinin-induced T lymphocyte transformation (HP:0025834): Def: A reduced rate of T lymphocyte transformation in response to in vitro stimulation to the mitogen phytohemagglutinin (PHA). Following PHA stimulation, T cells normally undergo morphological and biochemical alterations that reflect the transformation into lymphoblasts. There are several methods for quantifying this effect including measuring the uptake of the radioactive marker 3H-TdR, methyl thiazolyl tetrazolium colorimetric analysis (MTT assay), and morphological examination under the microscope or using a hematology analyzer. Various types of stimulation index compare the amount of proliferation between treated and control cells. An impaired test refers to a result in which the amount of stimulation is subnormal. Evidence: PCS. Frequency: 2/2. (PMID:26783323)
- 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:26783323)
- Podocyte foot process effacement (HP:0031266): An anomaly of podocyte morphology characterized by the loss of the interdigitating foot process pattern (generally called foot process effacement; FPE). The term FPE designates the loss of the usual interdigitating pattern of foot processes of neighboring podocytes, leading to relatively broad expanses of podocyte processes covering the glomerular basement membrane (GBM). It is widely viewed as a pathological derangement that is associated with leakage of macromolecules such as albumin through the glomerular filtration barrier. Evidence: PCS. Frequency: 1/1. Onset: Infantile onset (HP:0003593). (PMID:26783323)
- Proteinuria (HP:0000093): Increased levels of protein in the urine. Evidence: PCS. Frequency: 2/2. Onset: Infantile onset (HP:0003593). (PMID:26783323)
- Minimal change glomerulonephritis (HP:0012579): The presence of minimal changes visible by light microscopy but flattened and fused podocyte foot processes on electron microscopy in a person with nephrotic range proteinuria. Evidence: PCS. Frequency: 1/2. Onset: Infantile onset (HP:0003593). (PMID:26783323)
These phenotypes are associated with the disease autoimmune disease, multisystem, infantile-onset, 2 (OMIM:617006).