From HPO
Failure to thrive in infancy- MedGen UID:
- 358083
- •Concept ID:
- C1867873
- •
- Finding
Recurrent respiratory infections- MedGen UID:
- 812812
- •Concept ID:
- C3806482
- •
- Finding
An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.
Cervical lymphadenopathy- MedGen UID:
- 66724
- •Concept ID:
- C0235592
- •
- Disease or Syndrome
Enlarged lymph nodes in the neck.
Decreased circulating total IgM- MedGen UID:
- 116095
- •Concept ID:
- C0239989
- •
- Finding
An abnormally decreased level of immunoglobulin M (IgM) in blood.
B lymphocytopenia- MedGen UID:
- 340780
- •Concept ID:
- C1855067
- •
- Finding
An abnormal decrease from the normal count of B cells.
Abnormally low T cell receptor excision circle level- MedGen UID:
- 1611921
- •Concept ID:
- C4531052
- •
- Finding
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.
Decreased circulating IgG level- MedGen UID:
- 1720114
- •Concept ID:
- C5234937
- •
- Finding
An abnormally decreased level of immunoglobulin G (IgG) in blood.
Urticaria- MedGen UID:
- 22587
- •Concept ID:
- C0042109
- •
- Disease or Syndrome
Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure.
- Abnormality of the immune system
- Abnormality of the integument
- Abnormality of the respiratory system
- Growth abnormality