- Decreased total T cell count (HP:0005403): Abnormal decrease in the absolute number of T cells, commonly characterized as CD3+ lymphocytes, per microliter of blood, compared to a reference range for a given sex and age-group. These may include both TCR alpha/beta and gamma/delta T cells. Evidence: PCS. Frequency: 0/7. (PMID:21057262)
- Lymphadenitis (HP:0002840): Inflammation of a lymph node. Evidence: PCS. (PMID:18669862)
- Recurrent meningitis (HP:0006946): An increased susceptibility to meningitis as manifested by a medical history of recurrent episodes of meningitis. Evidence: PCS. Frequency: 5/9. (PMID:18669862)
- Recurrent skin infections (HP:0001581): Infections of the skin that happen multiple times. Evidence: PCS. Frequency: 2/9. (PMID:18669862)
- Abnormal total natural killer cell count (HP:0040089): Abnormal increase or decrease of total natural killer (NK) cells, commonly characterized as CD3-CD19- and CD16+ or CD56+ lymphocytes, in the blood, per microlitre, or altered NK cell phenotype, compared to a reference range for a given sex and age-group, measured ex vivo. Evidence: PCS. Frequency: 0/7. (PMID:21057262)
- Sepsis (HP:0100806): Sepsis is defined as life-threatening organ dysfunction caused by a dysregulated host response to infection. Evidence: PCS. Frequency: 1/9. (PMID:18669862)
- Septic arthritis (HP:0003095). Evidence: PCS. Frequency: 1/9. (PMID:18669862)
- 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:18669862)
- Delayed umbilical cord separation (HP:0032434): Separation of the umbilical cord occurs at an abnormally late timepoint. Evidence: PCS. Frequency: 1/1. Onset: Congenital onset (HP:0003577). (PMID:31301515)
- Decreased total B cell count (HP:0010976): The absolute number of B cells in the blood, per microlitre is below the lower limit of normal of the reference range for the appropriate sex and age-group. Evidence: PCS. Frequency: 1/8. (PMID:21057262;PMID:31301515)
- Abscess (HP:0025615): An abscess is a localized collection of purulent material surrounded by inflammation and granulation. Evidence: PCS. Frequency: 4/9. (PMID:18669862)
These phenotypes are associated with the disease pyogenic bacterial infections due to MyD88 deficiency (OMIM:612260).