Phenotypes associated with the disease autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive (OMIM:617099):
- Diarrhea (HP:0002014): Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. Evidence: PCS. Frequency: 3/3. Onset: Neonatal onset (HP:0003623). (PMID:27523608)
- Joint swelling (HP:0001386). Evidence: PCS. Frequency: 3/3. (PMID:27523608)
- Increased total CD4+ T cell proportion (HP:0032219): Abnormal increase of helper CD3+CD4+ T cells, measured as percentage of total CD3+ T cells in the blood, compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population. Evidence: PCS. Frequency: 2/2. (PMID:27559085)
- Failure to thrive in infancy (HP:0001531). Evidence: PCS. Frequency: 3/3. (PMID:27559085)
- Increased circulating IgM concentration (HP:0003496): An abnormally increased level of immunoglobulin M in blood. Evidence: PCS. Frequency: 3/3. (PMID:27523608)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 3/3. (PMID:27559085)
- Increased circulating IgA concentration (HP:0003261): An abnormally increased level of immunoglobulin A in blood. Evidence: PCS. Frequency: 3/3. (PMID:27523608)
- Increased total neutrophil count (HP:0011897): Abnormal increase of absolute number of neutrophils in the blood, per microliter, compared to a reference range for a given sex and age-group. Evidence: PCS. Frequency: 3/3. Onset: Neonatal onset (HP:0003623). (PMID:27523608)
- Elevated circulating C-reactive protein concentration (HP:0011227): The concentration of C-reactive protein in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 3/3. Onset: Neonatal onset (HP:0003623). (PMID:27523608)
- Arthralgia (HP:0002829): Joint pain. Evidence: PCS. Frequency: 3/3. (PMID:27559085)
- 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:27523608)
- Lipodystrophy (HP:0009125): Degenerative changes of the fat tissue. Evidence: PCS. Frequency: 3/3. (PMID:27559085)
- Lymphadenopathy (HP:0002716): Enlargement (swelling) of a lymph node. Evidence: PCS. Frequency: 2/3. (PMID:27559085)
- Recurrent fever (HP:0001954): Periodic (episodic or recurrent) bouts of fever. Evidence: PCS. Frequency: 3/3. (PMID:27559085)
- Panniculitis (HP:0012490): Inflammation of subcutaneous adipose tissue. Evidence: PCS. Frequency: 6/6. (PMID:27559085;PMID:27523608)
- Skin rash (HP:0000988): A red eruption of the skin. Evidence: PCS. Frequency: 3/3. (PMID:27559085)
- Abdominal pain (HP:0002027): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. Evidence: PCS. Frequency: 1/3. (PMID:27559085)
- Increased total leukocyte count (HP:0001974): An abnormal increase in the number of leukocytes in the blood. Evidence: PCS. Frequency: 3/3. Onset: Neonatal onset (HP:0003623). (PMID:27523608)
- Myalgia (HP:0003326): Pain in muscle. Evidence: PCS. Frequency: 2/3. (PMID:27559085)
- Vasculitis (HP:0002633): Inflammation of blood vessel. Evidence: PCS. Frequency: 1/3. (PMID:27559085)
- 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: 1/3. (PMID:27559085)