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Start free with EleplanT-B-NK- severe combined immunodeficiency due to adenosine deaminase deficiency
ORPHA:277Disease
Also called ADA deficiency · T-B-NK- SCID due to adenosine deaminase deficiency
What it is
Severe combined immunodeficiency (SCID) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections.
Key facts
- Prevalence
- 1-9 / 1 000 000 (Europe)
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Common30–79%
20- Abnormality of humoral immunity
- Absence of lymph node germinal center
- Absent tonsils
- Allergy
- Anti-thyroid peroxidase antibody positivity
- Autoimmunity
- Decreased total B cell count
- Decreased total T cell count
- Diarrhea
- Failure to thrive
- Increased circulating IgE concentration
- Inflammatory abnormality of the skin
- Lack of T cell function
- Lymphopenia
- Pulmonary insufficiency
- Recurrent opportunistic infections
- Recurrent otitis media
- Recurrent pneumonia
- Recurrent upper respiratory tract infections
- Sinusitis
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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