ORPHA:906
Wiskott-Aldrich syndrome
Also known as: Eczema-thrombocytopenia-immunodeficiency syndrome · WAS
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
14,760
98.1th percentile
Trials
26
Interventional, condition-specific
Researchers
1,488
Distinct authors in sample
Gene link
WAS
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies.
How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010518
- MeSH:D014923
- OMIM:301000
- UMLS:C0043194
- NCIT:C3448
Additional Mondo synonyms (5)
Wiskott Aldrich syndrome · Wiskott-Aldrich syndrome 1 · Wiskott-Aldrich syndrome, X-linked recessive · eczema-thrombocytopenia-immunodeficiency syndrome · immunodeficiency 2
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 — WAS
- LiteraturePresent
14,760 matched papers (6,992 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
26 matched on ClinicalTrials.gov (1 recruiting in sample)
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 (WAS).
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?
14,760
14,760 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=5449) is 41.
14,760 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).
6,992 in the last 10 years · medium confidence · 98.1th percentile (publications denominator)
Phrase hits: 14,760 · MeSH hits: 0
Who's working on it?
1,488
Distinct author names in 200 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.
- 01Notarangelo LD7 papers · 2026
Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Papers in Europe PMC - 02
- 03Shcherbina A6 papers · 2026
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia.
Papers in Europe PMC - 04Aiuti A5 papers · 2025
Pediatric Immunohematology and Stem Cell Program, San Raffaele Telethon Institute for Gene Therapy, IRCCS San Raffaele Scientific Institute, Milan, Italy.
Papers in Europe PMC - 05Chandrakasan S5 papers · 2026
Bone Marrow Transplant Program, Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta, Atlanta, GA.
Papers in Europe PMC - 06Liu Y5 papers · 2026
Guanganmen Hospital, China Academy of Chinese Medical Sciences, Beijing, China.
Papers in Europe PMC - 07Rakshit S5 papers · 2025
Department of Biotechnology, SRM Institute of Science and Technology, Kattankulathur, Tamil Nadu, 603203, India.
Papers in Europe PMC - 08Rawat A5 papers · 2026
Allergy Immunology Unit, Department of Pediatrics, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Papers in Europe PMC - 09Sarkar K5 papers · 2025
Department of Biotechnology, SRM Institute of Science and Technology, Kattankulathur, Tamil Nadu, 603203, India. koustavsarkar@gmail.com.
Papers in Europe PMC - 10Shanmugam G5 papers · 2025
Department of Biotechnology, SRM Institute of Science and Technology, Kattankulathur, Tamil Nadu, 603203, India.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
26
interventional trials for this specific condition
26 interventional trials matched this specific condition name; 1 currently recruiting in our sample.
Data as of 27 July 2026
26 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 95.3th percentile).
medium confidence · 95.3th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
26 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT01852370·ENROLLING BY INVITATION·Sequential Cadaveric Lung and Bone Marrow Transplant for Immune Deficiency Diseases
Conditions: Severe Combined Immunodeficiency (SCID) · Immunodeficiency With Predominant T-cell Defect, Unspecified · Severe Chronic Neutropenia · Chronic Granulomatous Disease (CGD)·Matched via name phrase
Observational and natural-history studies
8 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
None of the matched observational studies is currently listed as recruiting.
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 2026-07-26Directly listed under NPRD Group 1.
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.
"Wiskott-Aldrich syndrome" OR "Eczema-thrombocytopenia-immunodeficiency syndrome" OR "Wiskott Aldrich syndrome" OR "Wiskott-Aldrich syndrome 1" OR "Wiskott-Aldrich syndrome, X-linked recessive" OR "immunodeficiency 2"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Wiskott-Aldrich syndrome" OR "Eczema-thrombocytopenia-immunodeficiency syndrome" OR "Wiskott Aldrich syndrome" OR "Wiskott-Aldrich syndrome 1" OR "Wiskott-Aldrich syndrome, X-linked recessive" OR "immunodeficiency 2" OR "WAS"
Recall-expansion terms: WAS
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 26 interventional · 8 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
Synonyms dropped by stoplist: WAS
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T15:52:07.366Z