T-B-NK- severe combined immunodeficiency due to adenosine deaminase deficiency

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

("T-B-NK- severe combined immunodeficiency due to adenosine deaminase deficiency" OR "ADA deficiency" OR "T-B-NK- SCID due to adenosine deaminase deficiency" OR "ADA-SCID" OR "SCID due to ADA deficiency" OR "SCID due to ADA deficiency, early-onset" OR "SCID due to adenosine deaminase deficiency" OR "adenosine deaminase deficiency" OR "adenosine deaminase deficiency, partial, Autosomal recessive, Somatic mosaicism" OR "adenosine deaminase deficient severe combined immunodeficiency" OR "severe combined immunodeficiency due to ADA deficiency, Autosomal recessive, Somatic mosaicism" OR "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency") OR ("ADA syndrome" OR "ADA-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"T-B-NK- severe combined immunodeficiency due to adenosine deaminase deficiency"

Query health: suspect — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Source errors: trials: Error: HTTP 400 for https://clinicaltrials.gov/api/v2/studies?query.cond=%22T-B-NK-%20severe%20combined%20immunodeficiency%20due%20to%20adenosine%20deaminase%20deficiency%22%20OR%20%22ADA%20deficiency%22%20OR%20%22T-B-NK-%20SCID%20due%20to%20adenosine%20deaminase%20deficiency%22%20OR%20%22ADA-SCID%22%20OR%20%22SCID%20due%20to%20ADA%20deficiency%22%20OR%20%22SCID%20due%20to%20ADA%20deficiency%2C%20early-onset%22%20OR%20%22SCID%20due%20to%20adenosine%20deaminase%20deficiency%22%20OR%20%22adenosine%20deaminase%20deficiency%22%20OR%20%22adenosine%20deaminase%20deficiency%2C%20partial%2C%20Autosomal%20recessive%2C%20Somatic%20mosaicism%22%20OR%20%22adenosine%20deaminase%20deficient%20severe%20combined%20immunodeficiency%22%20OR%20%22severe%20combined%20immunodeficiency%20due%20to%20ADA%20deficiency%2C%20Autosomal%20recessive%2C%20Somatic%20mosaicism%22%20OR%20%22severe%20combined%20immunodeficiency%2C%20autosomal%20recessive%2C%20T%20cell-negative%2C%20B%20cell-negative%2C%20NK%20cell-negative%2C%20due%20to%20adenosine%20deaminase%20deficiency%22&format=json&pageSize=100&countTotal=true

Confidence reasoning

• Preferred label is multi-word and distinctive
• No synonyms dropped by stoplist
• No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T13:11:49.351Z