| Identifier/resource | Value | Supported name/synonym(s) | Evidence / URL |
|---|---|---|---|
| MONDO | MONDO:0013934 | combined immunodeficiency due to STK4 deficiency | OpenTargets disease-target association lists disease as “combined immunodeficiency due to STK4 deficiency” with MONDO_0013934 (pqac-00000000) |
| OMIM / MIM (gene) | STK4; MIM:604965 | STK4, serine threonine kinase 4; MST1 (protein/literature synonym) | Abdollahpour et al. explicitly give “STK4; MIM: 604965” (Blood 2012, DOI: https://doi.org/10.1182/blood-2011-09-378158) (pqac-00000021) |
| Literature disease label | not a separate registry identifier in current evidence | STK4 deficiency | Used as article/disease label in “The phenotype of human STK4 deficiency” (Blood 2012, DOI: https://doi.org/10.1182/blood-2011-09-378158) and “STK4 deficiency impairs innate immunity and interferon production…” (J Clin Immunol 2021, DOI: https://doi.org/10.1007/s10875-020-00891-7) (pqac-00000021, pqac-00000019) |
| Literature disease label | not a separate registry identifier in current evidence | MST1 deficiency | Used in literature as synonym, e.g., “autosomal recessive MST1 deficiency” / “MST1 (STK4) deficiency” (J Clin Immunol 2016, DOI: https://doi.org/10.1007/s10875-016-0232-2) (pqac-00000012) |
| Literature disease label | aligns with MONDO label above | combined immunodeficiency due to STK4 deficiency | Supported by OpenTargets MONDO label and by multiple papers describing STK4 deficiency as an autosomal recessive combined immunodeficiency (pqac-00000000, pqac-00000014, pqac-00000016) |
| Key 2024 literature naming | case-report terminology | STK4 deficiency; STK4 (MST1) deficiency | Al-Saud 2024: Front Immunol, DOI: https://doi.org/10.3389/fimmu.2024.1329610; Ying 2024: J Clin Immunol, DOI: https://doi.org/10.1007/s10875-024-01780-z (pqac-00000016, pqac-00000017) |
| ICD-10 | not retrieved in current evidence | — | not retrieved in current evidence |
| ICD-11 | not retrieved in current evidence | — | not retrieved in current evidence |
| MeSH | not retrieved in current evidence | — | not retrieved in current evidence |
| Orphanet | not retrieved in current evidence | — | not retrieved in current evidence |


*Table: This table compiles the disease identifiers and literature-supported names/synonyms for STK4 deficiency available in the currently gathered evidence. It distinguishes registry-backed identifiers from labels used in the clinical literature and flags vocabularies not yet retrieved.*