ORPHA:447731
NIK deficiency
Also known as: Primary immunodeficiency with multifaceted aberrant lymphoid immunity
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
108
60.9th percentile
Trials
0
Interventional, condition-specific
Researchers
851
Distinct authors in sample
Gene link
MAP3K14
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, primary combined T and B cell immunodeficiency characterized by recurrent, severe viral and bacterial infections. Immunologic findings include decreased immunoglobulin levels, decreased numbers of B and NK cells, reduced relative CD19+ B cells in peripheral blood, impaired memory responses to viral infections and defective antigen-specific T-cell proliferation.
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:0018642
- UMLS:C5680065
Additional Mondo synonyms (3)
MAP3K14 non-severe combined immunodeficiency · non-severe combined immunodeficiency caused by mutation in MAP3K14 · primary immunodeficiency with multifaceted aberrant lymphoid immunity
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.”
2/6 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
Strong — MAP3K14
- LiteraturePresent
108 matched papers (73 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 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 (MAP3K14).
GenCC classification: Strong.
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?
108
108 papers have ever been published on this condition (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.
108 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).
73 in the last 10 years · medium confidence · 60.9th percentile (publications denominator)
Phrase hits: 108 · MeSH hits: 0
Who's working on it?
851
Distinct author names in 108 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.
- 01Sun SC15 papers · 2025
Department of Immunology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA. ssun@mdanderson.org
Papers in Europe PMC - 02Cheng X10 papers · 2021
Department of Immunology, The University of Texas MD Anderson Cancer Center, 7455 Fannin Street, Box 902, Houston, TX, 77030, USA.
Papers in Europe PMC - 03Casanova JL9 papers · 2026
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Necker Hospital for Sick Children, Paris, France.
Papers in Europe PMC - 04Hu H7 papers · 2023
Department of Rheumatology and Immunology, State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, and Collaborative Innovation Center of Biotherapy, Chengdu, China.
Papers in Europe PMC - 05Jie Z7 papers · 2021
Department of Immunology, The University of Texas MD Anderson Cancer Center, 7455 Fannin Street, Box 902, Houston, TX, 77030, USA.
Papers in Europe PMC - 06Li Y7 papers · 2021
Life Sciences Institute, Zhejiang University, Hangzhou, China.
Papers in Europe PMC - 07Liu Y7 papers · 2021
College of Life SciencesInstitute for Advanced StudiesWuhan UniversityWuhanChina.
Papers in Europe PMC - 08Picard C7 papers · 2025
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Necker Hospital for Sick Children, Paris, France.
Papers in Europe PMC - 09Rui L7 papers · 2025
Department of Molecular and Integrative PhysiologyUniversity of Michigan Medical SchoolAnn ArborMIUSA.
Papers in Europe PMC - 10Tangye SG7 papers · 2025
Garvan Institute of Medical Research, Darlinghurst, Sydney, NSW, 2010, Australia. s.tangye@garvan.org.au.
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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th 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.
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 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
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.
"NIK deficiency" OR "Primary immunodeficiency with multifaceted aberrant lymphoid immunity" OR "MAP3K14 non-severe combined immunodeficiency" OR "non-severe combined immunodeficiency caused by mutation in MAP3K14"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"NIK deficiency" OR "Primary immunodeficiency with multifaceted aberrant lymphoid immunity" OR "MAP3K14 non-severe combined immunodeficiency" OR "non-severe combined immunodeficiency caused by mutation in MAP3K14" OR "MAP3K14"
Recall-expansion terms: MAP3K14
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T16:30:51.031Z