ORPHA:397787
Combined immunodeficiency due to IKBKB deficiency
Also known as: CID due to IKBKB deficiency · Combined immunodeficiency due to inhibitor of nuclear factor kappa B subunit beta deficiency
Publications
3
15.2th percentile
Trials
1
Interventional, condition-specific
Researchers
13
Distinct authors in sample
Gene link
IKBKB
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic form of primary immunodeficiency characterized by life-threatening bacterial, fungal and viral infections with the onset in infancy, and . Typically, hypogammaglobulinemia or agammaglobulinemia and normal levels of T and B cells are present.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0014267
- OMIM:615592
- UMLS:C4747743
Additional Mondo synonyms (3)
SCID due to IKK2 deficiency · immunodeficiency 15B · immunodeficiency type 15
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — IKBKB
- LiteraturePresent
3 matched papers (3 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPresent
1 matched on ClinicalTrials.gov
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (IKBKB).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
3
3 papers have ever been indexed under this name. For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
3 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
3 in the last 10 years · high confidence · 15.2th percentile (publications denominator)
Phrase hits: 3 · MeSH hits: 0
Who's working on it?
13
Distinct author names in 3 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Arce-Estrada GE1 paper · 2025
Unidad de Investigación en Inmunodeficiencias, Instituto Nacional de Pediatría, Mexico City, Mexico.
Papers in Europe PMC - 02Armenti ST1 paper · 2021
Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI 48105, USA.
Papers in Europe PMC - 03Berrón-Ruiz L1 paper · 2025
Unidad de Investigación en Inmunodeficiencias, Instituto Nacional de Pediatría, Mexico City, Mexico.
Papers in Europe PMC - 04Cao C1 paper · 2022
Department of Endocrinology and Metabolism, Institute of Endocrinology, National Health Commission (NHC) Key Laboratory of Diagnosis and Treatment of Thyroid Diseases, The First Affiliated Hospital of China Medical University, Shenyang, China.
Papers in Europe PMC - 05Contreras-Verduzco FA1 paper · 2025
Unidad de Investigación en Inmunodeficiencias, Instituto Nacional de Pediatría, Mexico City, Mexico.
Papers in Europe PMC - 06Espinosa-Padilla SE1 paper · 2025
Unidad de Investigación en Inmunodeficiencias, Instituto Nacional de Pediatría, Mexico City, Mexico.
Papers in Europe PMC - 07Prasov L1 paper · 2021
Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI 48105, USA.
Papers in Europe PMC - 08Rodríguez-Morales M1 paper · 2025
Departamento de Genética Humana, Instituto Nacional de Pediatría, Mexico City, Mexico.
Papers in Europe PMC - 09Sáez-de-Ocariz M1 paper · 2025
Servicio de Dermatología, Instituto Nacional de Pediatría, Mexico City, Mexico.
Papers in Europe PMC - 10Scheffler-Mendoza SC1 paper · 2025
Servicio de Inmunología, Instituto Nacional de Pediatría, Mexico City, Mexico.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
high confidence · 76.8th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26Likely covered — the policy lists Severe combined immunodeficiency (SCID) as a category (Group 1), and this condition is a form of it. Confirm eligibility with a Centre of Excellence.
Group 1 — one-time curative treatment
Up to ₹50 lakh per patient
Financial support for treatment at notified Centres of Excellence (figures evolved from the original ₹20 lakh Group-1 ceiling).
Policy figures change. Verify current MoHFW / CoE guidance before relying on any amount. Verify
Centres of Excellence (15)
- All India Institute of Medical Sciences (AIIMS) — New Delhi, Delhi
- Maulana Azad Medical College — New Delhi, Delhi
- Sanjay Gandhi Post Graduate Institute of Medical Sciences — Lucknow, Uttar Pradesh
- Post Graduate Institute of Medical Education and Research (PGIMER) — Chandigarh, Chandigarh
- Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences — Hyderabad, Telangana
- King Edward Memorial Hospital — Mumbai, Maharashtra
- Institute of Post-Graduate Medical Education and Research (IPGMER) — Kolkata, West Bengal
- Centre for Human Genetics with Indira Gandhi Hospital — Bengaluru, Karnataka
- Institute of Child Health and Hospital for Children (ICH & HC) — Chennai, Tamil Nadu
- All India Institute of Medical Sciences (AIIMS) — Jodhpur, Rajasthan
- Sree Avittam Thirunal Hospital (SAT), Government Medical College — Thiruvananthapuram, Kerala
- All India Institute of Medical Sciences (AIIMS) — Bhopal, Madhya Pradesh
- Regional Institute of Medical Sciences (RIMS) — Imphal, Manipur
- All India Institute of Medical Sciences (AIIMS) — Patna, Bihar
- Assam Medical College & Hospital — Dibrugarh, Assam
Voluntary contributions / crowdfunding (separate from CoE funding): https://rarediseases.mohfw.gov.in/
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
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.
"Combined immunodeficiency due to IKBKB deficiency" OR "CID due to IKBKB deficiency" OR "Combined immunodeficiency due to inhibitor of nuclear factor kappa B subunit beta deficiency" OR "Combined immunodeficiency due to inhibitor of the nuclear factor kappa B subunit beta deficiency" OR "SCID due to IKK2 deficiency" OR "immunodeficiency 15B" OR "immunodeficiency type 15"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Combined immunodeficiency due to IKBKB deficiency" OR "CID due to IKBKB deficiency" OR "Combined immunodeficiency due to inhibitor of nuclear factor kappa B subunit beta deficiency" OR "Combined immunodeficiency due to inhibitor of the nuclear factor kappa B subunit beta deficiency" OR "SCID due to IKK2 deficiency" OR "immunodeficiency 15B" OR "immunodeficiency type 15" OR "IKBKB"
Recall-expansion terms: IKBKB
Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 1 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
Run this search on ClinicalTrials.gov
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 2026-07-27T15:14:01.516Z