- 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: 4/5. (PMID:37584719;PMID:30170160)
- Decreased circulating IgM concentration (HP:0002850): An abnormally decreased level of immunoglobulin M (IgM) in blood. Evidence: PCS. Frequency: 4/5. (PMID:37584719;PMID:30170160)
- Lymphadenitis (HP:0002840): Inflammation of a lymph node. Evidence: PCS. Frequency: 1/2. (PMID:37584719)
- BCGitis (HP:0020086): Local or regional infection with Bacillus Calmette-Guerin (BCG) following vaccination. Evidence: PCS. Frequency: 1/5. (PMID:37584719;PMID:30170160)
- Bronchiectasis (HP:0002110): Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways. Evidence: PCS. Frequency: 1/3. (PMID:38441205)
- Protracted diarrhea (HP:0004385). Evidence: PCS. Frequency: 4/8. (PMID:37584719;PMID:30170160;PMID:38441205)
- BCGosis (HP:0020087): Distant, or disseminated infection with Bacillus Calmette-Guerin (BCG) following vaccination associated with failure to contain thebacillus Calmette-Guerin (BCG) following vaccination leading to spread of BCG to many sites in the body. The tuberculosis vaccine BCG contains live attenuated Mycobacterium bovis. Evidence: PCS. Frequency: 0/3. (PMID:30170160)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 8/8. (PMID:37584719;PMID:30170160;PMID:38441205)
- Septic arthritis (HP:0003095). Evidence: PCS. Frequency: 1/3. (PMID:38441205)
- 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: 1/5. (PMID:37584719;PMID:30170160)
- Reduced MHC II cell surface expression (HP:0031390): Expression of major histocompatibility complex class II molecules at the cell surface is below the lower limit of normal. Evidence: PCS. Frequency: 6/6. (PMID:37584719;PMID:30170160;PMID:38441205)
- Recurrent oral thrush (HP:0009098): Chronic accumulation and overgrowth of the fungus Candida albicans on the mucous membranes of the mouth, generally manifested as associated with creamy white lesions on the tongue or inner cheeks, occasionally spreading to the gums, tonsils, palate or oropharynx. Evidence: PCS. Frequency: 3/6. (PMID:30170160;PMID:38441205)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: PCS. Frequency: 5/5. (PMID:37584719;PMID:30170160)
- Cellulitis (HP:0100658): A bacterial infection and inflammation of the skin und subcutaneous tissues. Evidence: PCS. Frequency: 1/2. (PMID:37584719)
- Sepsis (HP:0100806): Sepsis is defined as life-threatening organ dysfunction caused by a dysregulated host response to infection. Evidence: PCS. Frequency: 4/6. (PMID:30170160;PMID:38441205)
- Recurrent otitis media (HP:0000403): Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. Evidence: PCS. Frequency: 2/4. (PMID:37584719;PMID:30170160)
- 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:30170160)
- Recurrent pneumonia (HP:0006532): An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia. Evidence: PCS. Frequency: 7/8. (PMID:37584719;PMID:30170160;PMID:38441205)
- Decreased circulating IgA concentration (HP:0002720): Decreased levels of immunoglobulin A (IgA). Evidence: PCS. Frequency: 1/5. (PMID:37584719;PMID:30170160)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: PCS. Frequency: 1/2. (PMID:37584719)
- Osteomyelitis (HP:0002754): Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism. Evidence: PCS. Frequency: 1/3. (PMID:38441205)
- Decreased circulating IgG concentration (HP:0004315): An abnormally decreased level of immunoglobulin G (IgG) in blood. Evidence: PCS. Frequency: 0/2. (PMID:37584719)
These phenotypes are associated with the disease MHC class II deficiency 3 (OMIM:620816).