Phenotypes associated with the disease immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia (OMIM:618987):
- Decreased circulating IgM concentration (HP:0002850): An abnormally decreased level of immunoglobulin M (IgM) in blood. Evidence: PCS. Frequency: 2/2. (PMID:25512081)
- Failure to thrive in infancy (HP:0001531). Evidence: PCS. Frequency: 1/2. Onset: Infantile onset (HP:0003593). (PMID:25512081)
- Urticaria (HP:0001025): Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure. Evidence: PCS. Frequency: 1/2. Onset: Juvenile onset (HP:0003621). (PMID:25512081)
- Cervical lymphadenopathy (HP:0025289): Enlarged lymph nodes in the neck. Evidence: PCS. (PMID:25512081)
- 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:25512081)
- Recurrent respiratory infections (HP:0002205): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: PCS. Frequency: 2/2. Onset: Infantile onset (HP:0003593). (PMID:25512081)
- 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: 2/2. (PMID:25512081)
- Abnormally low T cell receptor excision circle level (HP:0031545): Reduced level of T cell receptor excision circle (TRECs) as measured by the TREC assay. Late in maturation, 70% of thymocytes that will ultimately express alpha/beta-T cell receptors form a circular DNA TREC from the excised TCRdelta gene that lies within the TCRalpha genetic locus. The circles are stable but do not increase following cell division and, therefore, become diluted as T cells proliferate. A quantitative polymerase chain reaction (PCR) reaction across the joint of the circular DNA provides the TREC copy number, a marker of newly-formed, antigenically-naïve thymic emigrant T cells. Evidence: PCS. Frequency: 2/2. (PMID:25512081)
- Decreased circulating IgG concentration (HP:0004315): An abnormally decreased level of immunoglobulin G (IgG) in blood. Evidence: PCS. Frequency: 2/2. (PMID:25512081)