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
5,430
Trials
0
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
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — IKBKB
- LiteraturePresent
5,430 matched papers (3,236 in last 10 years) Source
- Phenotype characterisedPresent
10 HPO annotations (e.g. Decreased circulating immunoglobulin concentration; Agammaglobulinemia; Recurrent oral thrush) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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)
10
Associated phenotypes · MONDO:0014267
- Decreased circulating immunoglobulin concentration
- Agammaglobulinemia
- Recurrent oral thrush
- Increased total monocyte count
- Decreased mitogen-induced T-cell proliferation
Showing 5 of 10 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
Monarch fetch 2026-07-29
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
5,430
5,430 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
5,430 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).
3,236 in the last 10 years · low confidence
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?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 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?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
low confidence · 38.6th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for Combined immunodeficiency due to IKBKB deficiency — check Associations / patient organisations on that page.
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") OR ("IKBKB" OR "IKBKB syndrome" OR "IKBKB-related")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"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; with hits: phrase
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
- Publication count (5430) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T15:14:01.516Z