Phenotypes associated with the disease autoinflammation, immune dysregulation, and eosinophilia (OMIM:618999):
- Increased total eosinophil count (HP:0001880): Increased count of eosinophils in the blood. Evidence: PCS. Frequency: 11/11. (PMID:28111307;PMID:32750333)
- Colonic eosinophilia (HP:0031813): An excess of eosinophilic cells in colonic tissue, i.e., eosinophilic infiltration in the colon. Evidence: PCS. Frequency: 1/1. (PMID:32750333)
- Atopic dermatitis (HP:0001047): Atopic dermatitis (AD) or atopic eczema is an itchy, inflammatory skin condition with a predilection for the skin flexures. It is characterized by poorly defined erythema with edema, vesicles, and weeping in the acute stage and skin thickening (lichenification) in the chronic stage. Evidence: PCS. Frequency: 4/4. (PMID:28111307;PMID:32750333)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: PCS. (PMID:28111307)
- 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: 1/1. (PMID:32750333)
- Asthma (HP:0002099): Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing. Evidence: PCS. Frequency: 1/1. (PMID:32750333)
- Membranous nephropathy (HP:0012578): A type of glomerulonephropathy characterized by thickening of the basement membrane and deposition of immune complexes in the subepithelial space. Evidence: PCS. Frequency: 1/1. (PMID:32750333)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: PCS. Frequency: 3/3. (PMID:28111307;PMID:32750333)
- Eosinophilic liver infiltration (HP:0032021): Cellular infiltration of the liver parenchyma with a preponderance of eosinophils. Evidence: PCS. (PMID:28111307)
- 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: 11/11. (PMID:28111307;PMID:32750333)
- Hypothyroidism (HP:0000821): Deficiency of thyroid hormone. Evidence: PCS. (PMID:28111307)
- Hepatic cysts (HP:0001407). Evidence: PCS. Frequency: 2/2. Onset: Antenatal onset (HP:0030674). (PMID:28111307)
- Recurrent viral infections (HP:0004429): Increased susceptibility to viral infections as manifested by recurrent episodes of viral infection. Evidence: PCS. (PMID:28111307)
- Hepatosplenomegaly (HP:0001433): Simultaneous enlargement of the liver and spleen. Evidence: PCS. (PMID:28111307)
- Autosomal dominant inheritance (HP:0000006): 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:28111307)