From HPO
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.
Decreased circulating IgA concentration- MedGen UID:
- 57934
- •Concept ID:
- C0162538
- •
- Disease or Syndrome
Decreased levels of immunoglobulin A (IgA).
Decreased circulating total IgM- MedGen UID:
- 116095
- •Concept ID:
- C0239989
- •
- Finding
An abnormally decreased level of immunoglobulin M (IgM) in blood.
Recurrent otitis media- MedGen UID:
- 155436
- •Concept ID:
- C0747085
- •
- Disease or Syndrome
Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.
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 T cell count- MedGen UID:
- 866762
- •Concept ID:
- C4021113
- •
- Finding
A deviation from the normal count of T cells.
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.
Decreased specific pneumococcal antibody level- MedGen UID:
- 868496
- •Concept ID:
- C4022890
- •
- Finding
The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against pneumococci.
Increased circulating interleukin 6 concentration- MedGen UID:
- 901461
- •Concept ID:
- C4280771
- •
- Finding
The concentration of interleukin-6 in the blood circulation is above the upper limit of normal.
Partial absence of specific antibody response to tetanus vaccine- MedGen UID:
- 1699537
- •Concept ID:
- C5139460
- •
- Finding
A reduced ability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination.
Decreased circulating IgG concentration- MedGen UID:
- 1720114
- •Concept ID:
- C5234937
- •
- Finding
An abnormally decreased level of immunoglobulin G (IgG) in blood.
Increased circulating interleukin 10 concentration- MedGen UID:
- 1735742
- •Concept ID:
- C5421678
- •
- Finding
An elevation of the concentration of interleukin 10 in the blood circulation.
Hepatic hemophagocytosis- MedGen UID:
- 1842040
- •Concept ID:
- C5826669
- •
- Finding
Phagocytosis of erythrocytes, lymphocytes or other hematopoietic precursors by histiocytes or macrophages observed in the liver.
Diabetes mellitus type 1- MedGen UID:
- 41522
- •Concept ID:
- C0011854
- •
- Disease or Syndrome
Type 1 diabetes mellitus (T1D), also designated insulin-dependent diabetes mellitus (IDDM), is a disorder of glucose homeostasis characterized by susceptibility to ketoacidosis in the absence of insulin therapy. It is a genetically heterogeneous autoimmune disease affecting about 0.3% of Caucasian populations (Todd, 1990). Genetic studies of T1D have focused on the identification of loci associated with increased susceptibility to this multifactorial phenotype.
The classic phenotype of diabetes mellitus is polydipsia, polyphagia, and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels.
Recurrent fever- MedGen UID:
- 811468
- •Concept ID:
- C3714772
- •
- Sign or Symptom
Periodic (episodic or recurrent) bouts of fever.
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.
Vitiligo- MedGen UID:
- 22677
- •Concept ID:
- C0042900
- •
- Disease or Syndrome
Generalized well circumscribed patches of leukoderma that are generally distributed over symmetric body locations and is due to autoimmune destruction of melanocytes.
Hypothyroidism- MedGen UID:
- 6991
- •Concept ID:
- C0020676
- •
- Disease or Syndrome
Deficiency of thyroid hormone.
- Abnormality of metabolism/homeostasis
- Abnormality of the endocrine system
- Abnormality of the immune system
- Abnormality of the integument
- Abnormality of the respiratory system