Severe combined immunodeficiency due to adenosine deaminase deficiency

Inherited ADA deficiency resulting in immunodeficiency. It accounts for 15 % of SCID cases in infancy. Partial ADA deficiency may occur in some immunocompetent patients, who show decreased enzyme activity in erythrocytes, but retain sufficient enzyme activity in leukocytes and other nucleated cells. OMIM: 102700

Also Known As:

ADA Deficiency; ADA-SCID; Adenosine Deaminase Deficiency, Partial; Adenosine Deaminase Deficient Severe Combined Immunodeficiency; Adenosine deaminase deficiency; Adenosine deaminase-deficient severe combined immunodeficiency disease; Agammaglobulinemia, Swiss type; Bubble boy disease; Delayed-Late-Onset Adenosine Deaminase Deficiency; Partial ADA Deficiency; Partial adenosine deaminase deficiency; SCID Due to ADA Deficiency; SCID Due to ADA Deficiency, Delayed Onset; SCID Due to ADA Deficiency, Early-Onset; SCID Due to ADA Deficiency, Late-Onset; SCID1; Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency; Severe combined immunodeficiency, alymphocytotic type

Hemic and Lymphatic Diseases: 7
- Hematologic Diseases: 3445
  - Blood Protein Disorders: 17
    - Agammaglobulinemia: 1583
      - Severe combined immunodeficiency due to adenosine deaminase deficiency: 506
- Lymphatic Diseases: 96
  - Lymphoproliferative Disorders: 4321
    - Agammaglobulinemia: 1583
      - Severe combined immunodeficiency due to adenosine deaminase deficiency: 506
Immune System Diseases: 4430
- Immunologic Deficiency Syndromes: 91
  - Agammaglobulinemia: 1583
    - Severe combined immunodeficiency due to adenosine deaminase deficiency: 506
  - Primary Immunodeficiency Diseases: 1211
    - Severe Combined Immunodeficiency: 2762
      - Severe combined immunodeficiency due to adenosine deaminase deficiency: 506
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Primary Immunodeficiency Diseases: 1211
    - Severe Combined Immunodeficiency: 2762
      - Severe combined immunodeficiency due to adenosine deaminase deficiency: 506
- Diseases Newborn Infant: 271
  - Severe Combined Immunodeficiency: 2762
    - Severe combined immunodeficiency due to adenosine deaminase deficiency: 506
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - DNA Repair-Deficiency Disorders: 544
    - Severe Combined Immunodeficiency: 2762
      - Severe combined immunodeficiency due to adenosine deaminase deficiency: 506

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