From HPO
B-cell lymphoma- MedGen UID:
- 86953
- •Concept ID:
- C0079731
- •
- Neoplastic Process
A type of lymphoma that originates in B-cells.
Clubbing of fingers- MedGen UID:
- 3129
- •Concept ID:
- C0009080
- •
- Finding
Terminal broadening of the fingers (distal phalanges of the fingers).
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.
Hepatosplenomegaly- MedGen UID:
- 9225
- •Concept ID:
- C0019214
- •
- Sign or Symptom
Simultaneous enlargement of the liver and spleen.
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 lower respiratory tract infections- MedGen UID:
- 756211
- •Concept ID:
- C3163798
- •
- Disease or Syndrome
An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections.
Autoimmune hemolytic anemia- MedGen UID:
- 1918
- •Concept ID:
- C0002880
- •
- Disease or Syndrome
An autoimmune form of hemolytic anemia.
Splenomegaly- MedGen UID:
- 52469
- •Concept ID:
- C0038002
- •
- Finding
Abnormal increased size of the spleen.
Antinuclear antibody positivity- MedGen UID:
- 101792
- •Concept ID:
- C0151480
- •
- Laboratory or Test Result
The presence of autoantibodies in the serum that react against nuclei or nuclear components.
Cervical lymphadenopathy- MedGen UID:
- 66724
- •Concept ID:
- C0235592
- •
- Disease or Syndrome
Enlarged lymph nodes in the neck.
Increased circulating IgA level- MedGen UID:
- 66800
- •Concept ID:
- C0239984
- •
- Finding
An abnormally increased level of immunoglobulin A in blood.
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.
Increased circulating IgM level- MedGen UID:
- 333454
- •Concept ID:
- C1839972
- •
- Finding
An abnormally increased level of immunoglobulin M in blood.
Increased circulating IgG level- MedGen UID:
- 347032
- •Concept ID:
- C1858977
- •
- Finding
An abnormally increased level of immunoglobulin G in blood.
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.
Anti-thyroid peroxidase antibody positivity- MedGen UID:
- 1392952
- •Concept ID:
- C4476743
- •
- Laboratory or Test Result
The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid peroxidase.
Abnormal CD4:CD8 ratio- MedGen UID:
- 1619994
- •Concept ID:
- C4531154
- •
- Finding
Any abnormality in the relative amount of CD4+ and CD8+ T lymphocytes.
Decreased lymphocyte proliferation in response to mitogen- MedGen UID:
- 1615224
- •Concept ID:
- C4531166
- •
- Cell or Molecular Dysfunction
A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with mitogens, such as phytohemagglutinin (PHA).
Anti-thyroglobulin antibody positivity- MedGen UID:
- 1670955
- •Concept ID:
- C4732836
- •
- Finding
The presence of autoantibodies (immunoglobulins) in the serum that react to thyroglobulin.
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.
Decreased circulating IgG level- MedGen UID:
- 1720114
- •Concept ID:
- C5234937
- •
- Finding
An abnormally decreased level of immunoglobulin G (IgG) in blood.
Increased proportion autoreactive unresponsive CD21-/low B cells- MedGen UID:
- 1772613
- •Concept ID:
- C5421684
- •
- Finding
Increased proportion relative to B-lymphocytes of a subset of B lymphocytes characterized by dim/low levels of CD21, i.e., CD21-/low, in flow cytometry, and additionally enriched in autoreactive clones as determined for instance by clonse showing rheumatoid factor (anti-IgG) reactivity and antibodies recognizing cytoplasmic and to a lesser extent nuclear structures.
Mediastinal lymphadenopathy- MedGen UID:
- 451062
- •Concept ID:
- C0520743
- •
- Disease or Syndrome
Swelling of lymph nodes within the mediastinum, the central compartment of the thoracic cavities that contains the heart and the great vessels, the esophagus, and trachea and other structures including lymph nodes.
- Abnormality of limbs
- Abnormality of the digestive system
- Abnormality of the immune system
- Abnormality of the respiratory system
- Abnormality of the thoracic cavity
- Growth abnormality
- Neoplasm