Phenotypes associated with the disease lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis (OMIM:247800):
- Glomerulonephritis (HP:0000099): Inflammation of the renal glomeruli. Evidence: IEA. (OMIM:247800)
- Autoimmune hemolytic anemia (HP:0001890): An autoimmune form of hemolytic anemia. Evidence: IEA. (OMIM:247800)
- 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:247800)
- Decreased total lymphocyte count (HP:0001888): A reduced number of lymphocytes in the blood. Evidence: IEA. (OMIM:247800)
- Plasmacytosis (HP:0030150): An abnormally increased number of plasma cells in tissues, exudates, or blood. Evidence: TAS. (OMIM:247800)
- Pneumonia (HP:0002090): Inflammation of any part of the lung parenchyma. Evidence: IEA. (OMIM:247800)
- Increased circulating immunoglobulin concentration (HP:0010702): An increased level of gamma globulin (immunoglobulin) in the blood. Evidence: IEA. (OMIM:247800)