IEMbase 0142: ADA-related adenosine deaminase deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 142 |
| Nosology | 16.2.07.01 |
| Gene | ADA |
| External IDs | OMIM:102700; ORPHA:39041 |
| Generated mapping | MAPPED to Severe_Combined_Immunodeficiency.yaml#ADA deficiency |
| Candidate DisMech targets | Severe_Combined_Immunodeficiency.yaml#ADA deficiency |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as ADA-related adenosine deaminase deficiency, with alternate label severe combined immunodeficiency and abbreviation ADA. Treatability is marked yes.
The biochemical signal is markedly decreased red-cell adenosine deaminase activity, increased urinary deoxyadenosine, increased red-cell dATP, and decreased immunoglobulins. Clinical rows include severe combined immunodeficiency, B-cell lymphopenia, recurrent infections, failure to thrive, splenomegaly, skeletal abnormalities, anterior rib cupping, and scapular spurring.
DisMech phenotype coverage
Severe_Combined_Immunodeficiency.yaml has an ADA deficiency subtype with ADA
as the causal gene. It models ADA-SCID as a systemic purine metabolic disorder
in which toxic deoxyadenosine and dATP accumulation impairs lymphocyte
development and viability.
Local coverage is strong for the core immune phenotype: recurrent infections, failure to thrive, T/B/NK-cell immunophenotype, immune reconstitution by hematopoietic stem cell transplantation or gene therapy, and PEG-ADA enzyme replacement. The entry also captures deoxyadenosine/dATP-mediated pathophysiology rather than treating ADA-SCID as only a generic SCID label.
Concordance and completeness
Judgement: correct subtype mapping with good mechanism-level concordance.
The generated mapping is appropriate. IEMbase's ADA, deoxyadenosine, dATP, immunoglobulin, recurrent-infection, and failure-to-thrive signals all align with the local ADA-SCID subtype. IEMbase is more granular for rib and scapular skeletal rows and for B-cell lymphopenia wording. DisMech is richer for the causal chain and treatment rationale.
Curation actions
- Keep the mapping to
Severe_Combined_Immunodeficiency.yaml#ADA deficiency. - Do not confuse this with
Deficiency_of_Adenosine_Deaminase_2.yaml, which is ADA2/CECR1 vasculopathy, not ADA-SCID. - Consider future ADA-SCID refinement for the IEMbase-only skeletal rows and explicit red-cell ADA/dATP diagnostic marker wording.