- Recurrent lower respiratory tract infections (HP:0002783, a Human Phenotype Ontology term): An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections. Evidence: PCS. Frequency: 48/131. (PMID:29729943)
- Atrophic gastritis (HP:0002582, a Human Phenotype Ontology term): Atrophic gastritis (AG) is a histopathological entity that is characterized by chronic inflammation of the gastric mucosa with loss of gastric glandular cells and replacement by intestinal-type epithelium, pyloric-type glands, and fibrous tissue. Evidence: PCS. Frequency: 8/133. (PMID:29729943)
- Autoimmune hemolytic anemia (HP:0001890, a Human Phenotype Ontology term): An autoimmune form of hemolytic anemia. Evidence: PCS. Frequency: 4/14. (PMID:25329329)
- Hepatomegaly (HP:0002240, a Human Phenotype Ontology term): Abnormally increased size of the liver. Evidence: PCS. Frequency: 17/130. (PMID:29729943)
- Lymphocytic infiltration of the colorectal mucosa (HP:0032216, a Human Phenotype Ontology term): Abnormally increased intraepithelial lymphocyte count. This finding may be appreciated as large numbers of surface intraepithelial lymphocytes as seen (for instance) with hematoxylin and eosin staining of a colonic biopsy sample taken during colonoscopy. Evidence: IEA. (PMID:25213377)
- Allergy (HP:0012393, a Human Phenotype Ontology term): An allergy is an immune response or reaction to substances that are usually not harmful. Evidence: PCS. Frequency: 2/6. (PMID:25213377)
- Typified by incomplete penetrance (HP:0003829, a Human Phenotype Ontology term): Description of conditions in which not all individuals with a given genotype exhibit the disease. Penetrance is the proportion that develop disease given a lifespan of 80 years. Evidence: PCS. (PMID:29729943)
- Sepsis (HP:0100806, a Human Phenotype Ontology term): Sepsis is defined as life-threatening organ dysfunction caused by a dysregulated host response to infection. Evidence: PCS. Frequency: 10/128. (PMID:29729943)
- Decreased total lymphocyte count (HP:0001888, a Human Phenotype Ontology term): A reduced number of lymphocytes in the blood. Evidence: PCS. Frequency: 18/19. (PMID:25329329;PMID:25213377)
- Lymphadenopathy (HP:0002716, a Human Phenotype Ontology term): Enlargement (swelling) of a lymph node. Evidence: PCS. Frequency: 43/130. (PMID:29729943)
- Splenomegaly (HP:0001744, a Human Phenotype Ontology term): Abnormal increased size of the spleen. Evidence: PCS. Frequency: 6/12. (PMID:25329329)
- Psoriasiform dermatitis (HP:0003765, a Human Phenotype Ontology term): A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales). Evidence: PCS. Frequency: 3/14. (PMID:25329329)
- Arthritis (HP:0001369, a Human Phenotype Ontology term): Inflammation of a joint. Evidence: PCS. Frequency: 2/14. (PMID:25329329)
- Decreased circulating IgG concentration (HP:0004315, a Human Phenotype Ontology term): An abnormally decreased level of immunoglobulin G (IgG) in blood. Evidence: PCS. Frequency: 42/116. (PMID:29729943)
- Diarrhea (HP:0002014, a Human Phenotype Ontology term): Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. Evidence: PCS. Frequency: 51/133. (PMID:29729943)
- Decreased circulating IgM concentration (HP:0002850, a Human Phenotype Ontology term): An abnormally decreased level of immunoglobulin M (IgM) in blood. Evidence: PCS. Frequency: 30/118. (PMID:29729943)
- Decreased circulating immunoglobulin concentration (HP:0004313, a Human Phenotype Ontology term): An abnormally decreased level of immunoglobulin in blood. Evidence: PCS. Frequency: 65/120. (PMID:29729943)
- Crohn's disease (HP:0100280, a Human Phenotype Ontology term): A chronic granulomatous inflammatory disease of the intestines that may affect any part of the gastrointestinal tract from mouth to anus, causing a wide variety of symptoms. It primarily causes abdominal pain, diarrhea which may be bloody, vomiting, or weight loss, but may also cause complications outside of the gastrointestinal tract such as skin rashes, arthritis, inflammation of the eye, tiredness, and lack of concentration. Crohn's disease is thought to be an autoimmune disease, in which the body's immune system attacks the gastrointestinal tract, causing inflammation. Evidence: PCS. Frequency: 7/132. (PMID:29729943)
- Bronchiectasis (HP:0002110, a Human Phenotype Ontology term): Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways. Evidence: PCS. Frequency: 20/124. (PMID:29729943)
- Eczematoid dermatitis (HP:0000964, a Human Phenotype Ontology term): Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces. Evidence: PCS. Frequency: 1/6. (PMID:25213377)
- Recurrent upper respiratory tract infections (HP:0002788, a Human Phenotype Ontology term): An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis). Evidence: PCS. Frequency: 41/132. (PMID:29729943)
- Autoimmune thrombocytopenia (HP:0001973, a Human Phenotype Ontology term): The presence of thrombocytopenia in combination with detection of antiplatelet antibodies. Evidence: PCS. Frequency: 5/14. (PMID:25329329)
- Autosomal dominant inheritance (HP:0000006, a Human Phenotype Ontology term): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:25329329)
- Decreased circulating IgA concentration (HP:0002720, a Human Phenotype Ontology term): Decreased levels of immunoglobulin A (IgA). Evidence: PCS. Frequency: 53/119. (PMID:29729943)
- Immunodeficiency (HP:0002721, a Human Phenotype Ontology term): 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. (PMID:25329329)
These phenotypes are associated with the disease autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency (OMIM:616100, an entry in Online Mendelian Inheritance in Man).