T-B-NK+ severe combined immunodeficiency due to complete RAG1/2 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 complete RAG1/2 deficiency" OR "T-B-NK+ SCID due to complete RAG1/2 deficiency" OR "SCID due to complete RAG1/2 deficiency" OR "severe combined immunodeficiency, B cell-negative" OR "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive") OR (MESH:"Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive") OR ("RAG1" OR "RAG1 syndrome" OR "RAG1-related" OR "RAG2" OR "RAG2 syndrome" OR "RAG2-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive

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

(empty)

Query health: suspect — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase

Source errors: trials: Error: HTTP 400 for https://clinicaltrials.gov/api/v2/studies?query.cond=%22T-B-NK%2B%20%20severe%20combined%20immunodeficiency%20due%20to%20complete%20RAG1%2F2%20deficiency%22%20OR%20%22Severe%20Combined%20Immunodeficiency%2C%20Autosomal%20Recessive%2C%20T%20Cell-Negative%2C%20B%20Cell-Negative%2C%20NK%20Cell-Positive%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 2026-07-27T14:08:53.768Z