Phenotypes associated with the disease immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome (OMIM:304790):
- Decreased FOXP3-expressing T cell count (HP:6000473): The number of T cells in peripheral blood that express FOXP3-expressing is below the lower limit of normal. This finding is determined by flow cytometry. Evidence: PCS. (PMID:20301297)
- Alopecia (HP:0001596): A noncongenital process of hair loss, which may progress to partial or complete baldness. Evidence: PCS. Frequency: 10/88. (PMID:30443250)
- Increased circulating IgE concentration (HP:0003212): An abnormally increased overall level of immunoglobulin E in blood. Evidence: PCS. Frequency: 102/111. (PMID:30385752;PMID:30443250)
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: PCS. Frequency: 12/88. (PMID:30443250)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. (PMID:30443250)
- Type I diabetes mellitus (HP:0100651): A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin. Evidence: PCS. Frequency: 43/88. (PMID:30443250)
- Type I diabetes mellitus (HP:0100651): A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin. Evidence: PCS. Frequency: 7/28. Onset: Infantile onset (HP:0003593). (PMID:30385752)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: PCS. Frequency: 66/88. (PMID:30443250)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: PCS. Frequency: 29/88. (PMID:30443250)
- Immune dysregulation (HP:0002958): Altered immune function characterized by lymphoid proliferation, immune activation, and excessive autoreactivity often leading to autoimmune/inflammatory complications. Evidence: PCS. (PMID:30443250)
- Lymphadenopathy (HP:0002716): Enlargement (swelling) of a lymph node. Evidence: PCS. Frequency: 12/88. (PMID:30443250)
- Ventriculomegaly (HP:0002119): An increase in size of the ventricular system of the brain. Evidence: PCS. Frequency: 3/88. (PMID:30443250)
- Arthritis (HP:0001369): Inflammation of a joint. Evidence: PCS. Frequency: 8/88. (PMID:30443250)
- Glomerulonephritis (HP:0000099): Inflammation of the renal glomeruli. Evidence: PCS. Frequency: 3/28. (PMID:30385752)
- Increased total eosinophil count (HP:0001880): Increased count of eosinophils in the blood. Evidence: PCS. (PMID:30385752)
- Ileus (HP:0002595): Acute obstruction of the intestines preventing passage of the contents of the intestines. Evidence: TAS. (OMIM:304790)
- Global developmental delay (HP:0001263): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: PCS. Frequency: 12/88. (PMID:30443250)
- Severe infection (HP:0032169): A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection. Evidence: PCS. Frequency: 41/88. (PMID:30443250)
- Hepatitis (HP:0012115): Inflammation of the liver. Evidence: PCS. Frequency: 4/28. (PMID:30385752)
- X-linked recessive inheritance (HP:0001419): A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. Evidence: PCS. (PMID:30443250)
- Villous atrophy (HP:0011473): The enteric villi are atrophic or absent. Evidence: PCS. Frequency: 40/88. (PMID:30443250)
- Food allergy (HP:0500093): Primary food allergies primarily occur as a result (most likely) of gastrointestinal sensitization to predominantly stable food allergens (glycoproteins). A secondary food allergy develops after primary sensitization to airborne allergens (e. g., pollen allergens) with subsequent reactions (due to cross-reactivity) to structurally related often labile allergens in (plant) foods. Evidence: PCS. Frequency: 42/116. (PMID:30385752;PMID:30443250)
- Eczematoid dermatitis (HP:0000964): Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces. Evidence: PCS. Frequency: 97/116. (PMID:30385752;PMID:30443250)
- Hypothyroidism (HP:0000821): Deficiency of thyroid hormone. Evidence: PCS. Frequency: 2/28. (PMID:30385752)
- Erythroderma (HP:0001019): An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever. Evidence: PCS. Frequency: 9/116. (PMID:30385752;PMID:30443250)
- Autoimmune thrombocytopenia (HP:0001973): The presence of thrombocytopenia in combination with detection of antiplatelet antibodies. Evidence: PCS. Frequency: 2/28. (PMID:30385752)
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: PCS. Frequency: 19/88. (PMID:30443250)
- Coombs-positive hemolytic anemia (HP:0004844): A type of hemolytic anemia in which the Coombs test is positive. Evidence: PCS. Frequency: 4/28. (PMID:30385752)
- Decreased total neutrophil count (HP:0001875): Abnormal decrease of absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group. Evidence: PCS. Frequency: 11/88. (PMID:30443250)
- Chronic diarrhea (HP:0002028): The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks. Evidence: PCS. Frequency: 28/28. (PMID:30385752)
- Anti-glutamic acid decarboxylase antibody positivity (HP:0025329): The presence of autoantibodies (immunoglobulins) in the serum that react against glutamic acid decarboxylase. Evidence: PCS. Frequency: 9/28. (PMID:30385752)