Caring for someone with this diagnosis? Eleplan keeps diagnoses, medications, documents and every specialist in one plan.
Start free with EleplanT-B+NK- severe combined immunodeficiency due to JAK3 deficiency
ORPHA:35078Disease
Also called T-B+NK- SCID due to JAK3 deficiency
What it is
Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.
Key facts
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Signs and symptoms
Very common80–99%
4- Decreased lymphocyte proliferation in response to mitogen
- Decreased total T cell count
- Impaired lymphocyte transformation with phytohemagglutinin
- Lack of T cell function
Common30–79%
6Sometimes5–29%
10- Acute otitis media
- Decreased circulating IgG level
- Decreased circulating total IgM
- Decreased total B cell count
- Failure to thrive in infancy
- Partial IgA deficiency
- Pustule
- Recurrent infection of the gastrointestinal tract
and 2 more in this range
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
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
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.
Powered by Eleplan
A rare diagnosis is just the start. Eleplan keeps the whole care plan in one place.
Diagnoses, medications, documents, appointments, and the whole care team — organized and always in sync, so you are not retelling the same story to every new specialist. With Ellie, your AI care assistant, on top of it. Free to start.