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1.

Adenosine preparation

A nucleoside that is composed of ADENINE and D-RIBOSE. Adenosine or adenosine derivatives play many important biological roles in addition to being components of DNA and RNA. Adenosine itself is a neurotransmitter. [from MeSH]

MedGen UID:
127
Concept ID:
C0001443
Biologically Active Substance; Nucleic Acid, Nucleoside, or Nucleotide; Pharmacologic Substance
2.

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
3.

Adult onset

Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. [from HPO]

MedGen UID:
342909
Concept ID:
C1853562
Finding
4.

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
5.

Onset

The age group in which disease manifestations appear. [from HPO]

MedGen UID:
64519
Concept ID:
C0206132
Quantitative Concept
6.

Immunodeficiency

MedGen UID:
7034
Concept ID:
C0021051
Disease or Syndrome
7.

Partial adenosine deaminase deficiency

MedGen UID:
350862
Concept ID:
C1863239
Disease or Syndrome
8.

Severe combined immunodeficiency disease

MedGen UID:
88328
Concept ID:
C0085110
Disease or Syndrome
9.

Arginine

An essential amino acid in juvenile humans, Arginine is a complex amino acid, often found at active site in proteins and enzymes due to its amine-containing side chain. Arginine may prevent or treat heart and circulatory diseases, combat fatigue, and stimulate the immune system. It also boosts production of nitric oxide, relaxing blood vessels, and treating angina and other cardiovascular problems. Arginine is also an important intermediate in the urea cycle and in detoxification of nitrogenous wastes. (NCI04) [from NCI]

MedGen UID:
13907
Concept ID:
C0003765
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
10.

Mitogen

A soluble substance, usually a protein, that induces mitosis in resting cells, thereby causing cell proliferation. [from NCI]

MedGen UID:
7665
Concept ID:
C0026249
Pharmacologic Substance
11.

Lymphopenia

MedGen UID:
7418
Concept ID:
C0024312
Disease or Syndrome
12.

Late onset

A type of adult onset with onset of symptoms after the age of 60 years. [from HPO]

MedGen UID:
871123
Concept ID:
C4025592
Temporal Concept
13.

Lymphopenia

An abnormally small number of lymphocytes in the circulating blood. [from NCI]

MedGen UID:
810690
Concept ID:
C0853986
Finding
14.

En(a-)(UK) phenotype

MedGen UID:
714464
Concept ID:
C1292211
Finding
15.

En(a-) phenotype

MedGen UID:
714462
Concept ID:
C1292209
Finding
16.

Infections

MedGen UID:
678472
Concept ID:
C0851162
Disease or Syndrome
17.

Combined immunodeficiency

MedGen UID:
505803
Concept ID:
CN004782
Finding
18.

Severe combined immunodeficiency

MedGen UID:
505637
Concept ID:
CN003925
Finding
19.

Mode of inheritance

The pattern in which a particular genetic trait or disorder is passed from one generation to the next. [from HPO]

MedGen UID:
353811
Concept ID:
C1708511
Genetic Function
20.

Combined immunodeficiency

MedGen UID:
141668
Concept ID:
C0494261
Disease or Syndrome
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