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Results: 4

1.

SCID due to ADA deficiency, delayed onset

MedGen UID:
400241
Concept ID:
C1863237
Disease or Syndrome
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.

Partial adenosine deaminase deficiency

MedGen UID:
350862
Concept ID:
C1863239
Disease or Syndrome
4.

SCID Due to ADA Deficiency, Late-Onset

MedGen UID:
350861
Concept ID:
C1863238
Disease or Syndrome

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