ORPHA:169095
T-B+NK+ severe combined immunodeficiency due to FOXN1 deficiency
Also known as: T-B+NK+ SCID due to FOXN1 deficiency · Alymphoid cystic thymic dysgenesis · Nude/SCID · Nude/severe combined immunodeficiency · Severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome · Winged helix deficiency
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
438
81.6th percentile
Trials
0
Interventional, condition-specific
Researchers
1,161
Distinct authors in sample
Gene link
FOXN1
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, primary immunodeficiency due to a defect in adaptive immunity characterized by the triad of athymia (resulting in severe T-cell immunodeficiency), alopecia totalis and nail . Patients present or -onset, severe, recurrent, life-threatening infections and low or absent circulating T cells. Additional features reported include erythroderma, lymphoadenopathy, diarrhea and .
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:0011132
- MeSH:C536781
- OMIM:601705
- UMLS:C1866426
Additional Mondo synonyms (6)
FOXN1 deficiency · T-cell immunodeficiency, congenital alopecia, and nail dystrophy · alopecia immunodeficiency · alymphoid cystic thymic dysgenesis · severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome · winged helix deficiency
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
Definitive — FOXN1
- LiteraturePresent
438 matched papers (244 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 (FOXN1).
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?
438
438 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.
438 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).
244 in the last 10 years · medium confidence · 81.6th percentile (publications denominator)
Phrase hits: 438 · MeSH hits: 0
Who's working on it?
1,161
Distinct author names in 200 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.
- 01Pignata C17 papers · 2021
Department of Pediatrics, Unit of Immunology, Federico II University, via S. Pansini, 5, 80131, Naples, Italy. pignata@unina.it
Papers in Europe PMC - 02Notarangelo LD9 papers · 2025
Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.
Papers in Europe PMC - 03Giardino G8 papers · 2021
Department of Translational Medical Sciences, Pediatrics Section, Federico II University, Naples, Italy.
Papers in Europe PMC - 04Fusco A7 papers · 2014
Department of Translational Medical Sciences, Pediatric Section, "Federico II" University, Naples, Italy.
Papers in Europe PMC - 05Davies EG6 papers · 2026
Department of Immunology and Gene Therapy, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Papers in Europe PMC - 06Kreins AY6 papers · 2026
Department of Immunology and Gene Therapy, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Papers in Europe PMC - 07Markert ML6 papers · 2023
Department of Pediatrics, Division of Allergy and Immunology, Duke University Medical Center, Durham, NC, USA.
Papers in Europe PMC - 08Romano R6 papers · 2020
Department of Pediatrics, "Federico II" University, Via Pansini 5, 80131 Naples, Italy.
Papers in Europe PMC - 09Sousa AE6 papers · 2025
Instituto de Medicina Molecular, Faculdade de Medicina, Universidade de Lisboa, Lisboa, Portugal; Centro de Imunodeficiências Primárias, Lisboa, Portugal.
Papers in Europe PMC - 10Wang Y6 papers · 2025
Cancer Institute (Key Laboratory for Cancer Intervention and Prevention, China National Ministry of Education, Zhejiang Provincial Key Laboratory of Molecular Biology in Medical Sciences), The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.
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 2026-07-26Likely 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.
"T-B+NK+ severe combined immunodeficiency due to FOXN1 deficiency" OR "T-B+NK+ SCID due to FOXN1 deficiency" OR "Alymphoid cystic thymic dysgenesis" OR "Nude/SCID" OR "Nude/severe combined immunodeficiency" OR "Severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome" OR "Winged helix deficiency" OR "FOXN1 deficiency" OR "T-cell immunodeficiency, congenital alopecia, and nail dystrophy" OR "alopecia immunodeficiency"
MeSH descriptor terms unioned into the query: T-cell immunodeficiency, congenital alopecia and nail dystrophy
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"T-B+NK+ severe combined immunodeficiency due to FOXN1 deficiency" OR "T-B+NK+ SCID due to FOXN1 deficiency" OR "Alymphoid cystic thymic dysgenesis" OR "Nude/SCID" OR "Nude/severe combined immunodeficiency" OR "Severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome" OR "Winged helix deficiency" OR "FOXN1 deficiency" OR "T-cell immunodeficiency, congenital alopecia, and nail dystrophy" OR "alopecia immunodeficiency" OR "T-cell immunodeficiency, congenital alopecia and nail dystrophy" OR "FOXN1"
Recall-expansion terms: FOXN1
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh, recall-expansion; 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 (438) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-27T08:35:01.547Z