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Severe combined immunodeficiency due to adenosine deaminase deficiency MeSH Supplementary Concept Data 2023


MeSH Supplementary
Severe combined immunodeficiency due to adenosine deaminase deficiency
Unique ID
C531816
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C531816
Entry Term(s)
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
Registry Number
0
Heading Mapped to
*Agammaglobulinemia
*Severe Combined Immunodeficiency
Frequency
178
Note
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
Indexing Information
Adenosine Deaminase
Date of Entry
2010/08/25
Revision Date
2022/11/02
Severe combined immunodeficiency due to adenosine deaminase deficiency Preferred
Partial ADA Deficiency Narrower
Adenosine deaminase deficiency Broader
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