Phenotypes associated with the disease immunodeficiency 27A (OMIM:209950):
- Thrombocytosis (HP:0001894): Increased numbers of platelets in the peripheral blood. Evidence: PCS. (PMID:7815885)
- Enlarged mesenteric lymph node (HP:0025043): Increase in size of one or more mesenteric lymph nodes. Evidence: PCS. (PMID:7815885)
- Increased circulating IgM concentration (HP:0003496): An abnormally increased level of immunoglobulin M in blood. Evidence: PCS. (PMID:7815885)
- Hypoalbuminemia (HP:0003073): The concentration of albumin in the blood circulation is below the lower limit of normal. Evidence: PCS. (PMID:7815885)
- Increased inflammatory response (HP:0012649): A abnormal increase in the inflammatory response to injury or infection. Evidence: PCS. (PMID:7815885)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: PCS. (PMID:7815885)
- Lymphadenopathy (HP:0002716): Enlargement (swelling) of a lymph node. Evidence: PCS. (PMID:7815885)
- Histiocytosis (HP:0100727): An excessive number of histiocytes (tissue macrophages). Evidence: PCS. (PMID:7815885)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: PCS. (PMID:7815885)
- Weight loss (HP:0001824): Reduction of total body weight. Evidence: PCS. (PMID:7815885)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: PCS. (PMID:7815885)
- Anorexia (HP:0002039): Lack of desire to eat (loss of appetite). Evidence: PCS. (PMID:7815885)
- Elevated erythrocyte sedimentation rate (HP:0003565): An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen. Evidence: PCS. (PMID:7815885)
- Diarrhea (HP:0002014): Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. Evidence: PCS. (PMID:7815885)
- Pulmonary infiltrates (HP:0002113). Evidence: PCS. (PMID:7815885)
- Salmonella osteomyelitis (HP:0005661): Osteomyelitis caused by infection with the bacteria, salmonella. Evidence: IEA. (OMIM:209950)
- Night sweats (HP:0030166): Occurrence of excessive sweating during sleep. Evidence: PCS. (PMID:7815885)
- Pneumonia (HP:0002090): Inflammation of any part of the lung parenchyma. Evidence: PCS. (PMID:7815885)
- Abnormal bronchus physiology (HP:0025427): Any anomaly of the function of the bronchi. Evidence: PCS. (PMID:7815885)
- 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:7815885)
- Rheumatoid factor positive (HP:0002923): The presence in the serum of an autoantibody directed against the Fc portion of IgG. Evidence: PCS. (PMID:7815885)
- Hepatosplenomegaly (HP:0001433): Simultaneous enlargement of the liver and spleen. Evidence: PCS. (PMID:7815885)
- Increased circulating IgG concentration (HP:0003237): An abnormally increased level of immunoglobulin G in blood. Evidence: PCS. (PMID:7815885)
- Hypoplasia of the femoral head (HP:0008802): Underdevelopment of the femoral head. Evidence: PCS. (PMID:7815885)
- Increased total leukocyte count (HP:0001974): An abnormal increase in the number of leukocytes in the blood. Evidence: PCS. (PMID:7815885)