From HPO
Impaired collagen-induced platelet aggregation- MedGen UID:
- 870264
- •Concept ID:
- C4024703
- •
- Finding
Abnormal response to collagen or collagen-mimetics as manifested by reduced or lacking aggregation of platelets upon addition collagen or collagen-mimetics.
Abscess- MedGen UID:
- 1684
- •Concept ID:
- C0000833
- •
- Disease or Syndrome
An inflammatory process characterized by the accumulation of pus within a newly formed tissue cavity which is the result of a bacterial, fungal, or parasitic infection or the presence of a foreign body.
Autoimmune hemolytic anemia- MedGen UID:
- 1918
- •Concept ID:
- C0002880
- •
- Disease or Syndrome
An autoimmune form of hemolytic anemia.
Immunodeficiency- MedGen UID:
- 7034
- •Concept ID:
- C0021051
- •
- Disease or Syndrome
Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.
Recurrent infections- MedGen UID:
- 65998
- •Concept ID:
- C0239998
- •
- Finding
Increased susceptibility to infections.
Reduced natural killer cell activity- MedGen UID:
- 333452
- •Concept ID:
- C1839969
- •
- Finding
Reduced ability of the natural killer cell to function in the adaptive immune response.
Recurrent cutaneous abscess formation- MedGen UID:
- 867572
- •Concept ID:
- C4021957
- •
- Finding
An increased susceptibility to cutaneous abscess formation, as manifested by a medical history of recurrent cutaneous abscesses.
Decreased proportion of class-switched memory B cells- MedGen UID:
- 892709
- •Concept ID:
- C4072925
- •
- Finding
A reduction in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA.
Impaired neutrophil chemotaxis- MedGen UID:
- 895851
- •Concept ID:
- C4280709
- •
- Cell or Molecular Dysfunction
An impairment of the migration of neutrophils towards chemoattractants as part of the innate immune response
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.
Reduced antigen-specific T cell proliferation- MedGen UID:
- 1621145
- •Concept ID:
- C4531148
- •
- Finding
Impaired proliferation and expansion of a T cell population following activation by an antigenic stimulus.
Decreased proportion of CD4-positive T cells- MedGen UID:
- 1698933
- •Concept ID:
- C5139203
- •
- Finding
A reduction in the proportion of CD4-positive T cells relative to the total number of T cells.
Skin rash- MedGen UID:
- 1830322
- •Concept ID:
- C5779628
- •
- Sign or Symptom
A red eruption of the skin.
Petechiae- MedGen UID:
- 10680
- •Concept ID:
- C0031256
- •
- Disease or Syndrome
Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae.
Reduced reactive oxygen species production in neutrophils- MedGen UID:
- 1698992
- •Concept ID:
- C5139101
- •
- Cell or Molecular Dysfunction
An abnormal reduction in the amount of reactive oxygen produced by neutrophils in the respiratory burst.
- Abnormal cellular phenotype
- Abnormality of blood and blood-forming tissues
- Abnormality of the immune system
- Abnormality of the integument