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Items: 10

1.

Adenosine deaminase deficiency

An autosomal recessive deficiency of the purine salvage enzyme adenosine deaminase which results in Severe Combined Immunodeficiency Disease (SCID). The most common form of SCID, accounting for about 50% of autosomal recessive cases. The first disease for which gene therapy was applied. [from NCI]

MedGen UID:
120610
Concept ID:
C0268124
Disease or Syndrome
2.

Adenosine

a kind of nucleic acid [from CHV]

MedGen UID:
127
Concept ID:
C0001443
Biologically Active Substance; Neuroreactive Substance or Biogenic Amine; Nucleic Acid, Nucleoside, or Nucleotide; Pharmacologic Substance
3.

Severe combined immunodeficiency due to ADA deficiency

Adenosine deaminase (ADA) deficiency is a systemic purine metabolic disorder that primarily affects lymphocyte development, viability, and function. The clinical phenotypic spectrum includes: Severe combined immunodeficiency disease (SCID), often diagnosed by age six months and usually by age 12 months; Less severe "delayed" onset combined immune deficiency (CID), usually diagnosed between age one and ten years; "Late/adult onset" CID, diagnosed in the second to fourth decades; Benign "partial ADA deficiency" (very low or absent ADA activity in erythrocytes but greater ADA activity in nucleated cells), which is compatible with normal immune function. Infants with typical early-onset ADA-deficient SCID have failure to thrive and opportunistic infections associated with marked depletion of T, B, and NK lymphocytes, and an absence of both humoral and cellular immune function. If immune function is not restored, children with ADA-deficient SCID rarely survive beyond age one to two years. Infections in delayed- and late-onset types (commonly, recurrent otitis, sinusitis, and upper respiratory) may initially be less severe than those in individuals with ADA-deficient SCID; however, by the time of diagnosis these individuals often have chronic pulmonary insufficiency and may have autoimmune phenomena (cytopenias, anti-thyroid antibodies), allergies, and elevated serum concentration of IgE. The longer the disorder goes unrecognized, the more immune function deteriorates and the more likely are chronic sequelae of recurrent infection. [from GeneReviews]

MedGen UID:
354935
Concept ID:
C1863236
Disease or Syndrome
4.

Hypersensitivity

An allergy is a reaction by your immune system to something that does not bother most other people. People who have allergies often are sensitive to more than one thing. Substances that often cause reactions are. -Pollen. -Dust mites. -Mold spores. -Pet dander. -Food. -Insect stings. -Medicines. Normally, your immune system fights germs. It is your body's defense system. In most allergic reactions, however, it is responding to a false alarm. Genes and the environment probably both play a role. Allergies can cause a variety of symptoms such as a runny nose, sneezing, itching, rashes, swelling, or asthma. Allergies can range from minor to severe. Anaphylaxis is a severe reaction that can be life-threatening. Doctors use skin and blood tests to diagnose allergies. Treatments include medicines, allergy shots, and avoiding the substances that cause the reactions. NIH: National Institute of Allergy and Infectious Diseases.  [from MedlinePlus]

MedGen UID:
9370
Concept ID:
C0020517
Pathologic Function
5.

PROGRESSIVE ENCEPHALOMYELITIS WITH RIGIDITY

MedGen UID:
349287
Concept ID:
C1861457
Disease or Syndrome
7.

Adenoscan

MedGen UID:
810650
Concept ID:
C0718262
Organic Chemical; Pharmacologic Substance
8.

Purine nucleoside

Purines with a RIBOSE attached that can be phosphorylated to PURINE NUCLEOTIDES. [from MeSH]

MedGen UID:
18775
Concept ID:
C0034136
Nucleic Acid, Nucleoside, or Nucleotide; Pharmacologic Substance
9.

Immunodeficiency

Syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral. [from NCI]

MedGen UID:
7034
Concept ID:
C0021051
Disease or Syndrome
10.

Adenosine allergy

MedGen UID:
655637
Concept ID:
C0571878
Disease or Syndrome
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