From HPO
Failure to thrive- MedGen UID:
- 746019
- •Concept ID:
- C2315100
- •
- Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Coombs-positive hemolytic anemia- MedGen UID:
- 105458
- •Concept ID:
- C0520736
- •
- Disease or Syndrome
A type of hemolytic anemia in which the Coombs test is positive.
Bronchiectasis- MedGen UID:
- 14234
- •Concept ID:
- C0006267
- •
- Disease or Syndrome
Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.
Recurrent pneumonia- MedGen UID:
- 195802
- •Concept ID:
- C0694550
- •
- Disease or Syndrome
An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.
Chronic lung disease- MedGen UID:
- 196656
- •Concept ID:
- C0746102
- •
- Disease or Syndrome
According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities.
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.
Lymphopenia- MedGen UID:
- 7418
- •Concept ID:
- C0024312
- •
- Disease or Syndrome
A reduced number of lymphocytes in the blood.
Splenomegaly- MedGen UID:
- 52469
- •Concept ID:
- C0038002
- •
- Finding
Abnormal increased size of the spleen.
Decreased circulating IgA level- MedGen UID:
- 57934
- •Concept ID:
- C0162538
- •
- Disease or Syndrome
Decreased levels of immunoglobulin A (IgA).
Recurrent infections- MedGen UID:
- 65998
- •Concept ID:
- C0239998
- •
- Finding
Increased susceptibility to infections.
Autoimmune thrombocytopenia- MedGen UID:
- 116621
- •Concept ID:
- C0242584
- •
- Disease or Syndrome
The presence of thrombocytopenia in combination with detection of antiplatelet antibodies.
Lymphadenopathy- MedGen UID:
- 96929
- •Concept ID:
- C0497156
- •
- Disease or Syndrome
Enlargment (swelling) of a lymph node.
Immune dysregulation- MedGen UID:
- 335001
- •Concept ID:
- C1844666
- •
- Finding
Altered immune function characterized by lymphoid proliferation, immune activation, and excessive autoreactivity often leading to autoimmune/inflammatory complications.
T lymphocytopenia- MedGen UID:
- 419385
- •Concept ID:
- C2931322
- •
- Finding
An abnormally low count of T cells.
Persistent EBV viremia- MedGen UID:
- 767466
- •Concept ID:
- C3554552
- •
- Finding
Persistent presence of Epstein-Barr virus in the blood.
Abnormal natural killer cell count- MedGen UID:
- 866689
- •Concept ID:
- C4021036
- •
- Finding
Any deviation from the normal overall count of natural killer (NK) cells in the circulation or a deviation from the normal distribution of NK cell subtypes.
Abnormal B cell count- MedGen UID:
- 866853
- •Concept ID:
- C4021208
- •
- Finding
A deviation from the normal count of B cells, i.e., the cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells.
Defective T cell proliferation- MedGen UID:
- 868165
- •Concept ID:
- C4022557
- •
- Cell or Molecular Dysfunction
A reduced ability of a T cell population to expand by cell division following T cell activation.
Decreased circulating antibody level- MedGen UID:
- 892481
- •Concept ID:
- C4048270
- •
- Finding
An abnormally decreased level of immunoglobulin in blood.
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.
Persistent CMV viremia- MedGen UID:
- 1696514
- •Concept ID:
- C5139221
- •
- Finding
Lasting (uncontrolled) presence of cytomegalovirus in the blood circulation.
Increased proportion of gamma-delta T cells- MedGen UID:
- 1712401
- •Concept ID:
- C5398019
- •
- Finding
Increased proportion of gamma-delta T cells relative to the total number of T cells.
- Abnormality of blood and blood-forming tissues
- Abnormality of the immune system
- Abnormality of the respiratory system
- Growth abnormality