ORPHA:504530
Combined immunodeficiency due to Moesin deficiency
Also known as: CID due to Moesin deficiency · MSN-related combined immunodeficiency · X-linked Moesin-associated immunodeficiency
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
116
61.5th percentile
Trials
0
Interventional, condition-specific
Researchers
773
Distinct authors in sample
Gene link
MSN
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare combined T and B cell immunodeficiency characterized by childhood onset of recurrent bacterial and varicella zoster virus infections. Eczema and recurrent molluscum have also been reported. Laboratory studies reveal profound and persistent lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, and fluctuating neutropenia.
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:0010514
- OMIM:300988
- UMLS:C5568123
Additional Mondo synonyms (3)
IMD50 · immunodeficiency 50 · immunodeficiency type 50
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 — MSN
- LiteraturePresent
116 matched papers (75 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 (MSN).
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?
116
116 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.
116 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).
75 in the last 10 years · high confidence · 61.5th percentile (publications denominator)
Phrase hits: 116 · MeSH hits: 0
Who's working on it?
773
Distinct author names in 116 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.
- 01Dolby JM6 papers · 1975Papers in Europe PMC
- 02Standfast AF4 papers · 1972Papers in Europe PMC
- 03Wang Y4 papers · 2025
Department of Otorhinolaryngology, The First Affiliated Hospital of University of South China, Hengyang 421001, Hunan Province, P.R. China.
Papers in Europe PMC - 04Li S3 papers · 2023
Department of Otorhinolaryngology, The First Affiliated Hospital of University of South China, Hengyang 421001, Hunan Province, P.R. China.
Papers in Europe PMC - 05Li X3 papers · 2025
Department of Orthopedic Surgery and Shanghai Institute of Microsurgery on Extremities, Shanghai Jiaotong University Affiliated Sixth People's Hospital, Shanghai, China.
Papers in Europe PMC - 06Wang J3 papers · 2025
West Virginia University Cancer Institute/Mary Babb Randolph Cancer Center, West Virginia University, Morgantown, WV 26506, USA.
Papers in Europe PMC - 07Zhang W3 papers · 2026
Department of Pediatric Allergy and Immunology, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, 325027, China.
Papers in Europe PMC - 08Anisimov AP2 papers · 2020
Laboratory for Plague Microbiology, Especially Dangerous Infections Department, State Research Center for Applied Microbiology and Biotechnology, 142279 Obolensk, Russia.
Papers in Europe PMC - 09BASIL B2 papers · 1957Papers in Europe PMC
- 10Croda J2 papers · 2020
School of Medicine, Federal University of Mato Grosso do Sul, Campo Grande, Brazil.
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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
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.
high 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.
Observational and natural-history studies
1 observational study matches 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.
Recruiting or not-yet-recruiting
- NCT06278337·RECRUITING·X-linked Moesin Associated Immunodeficiency
Conditions: Immune Deficiency · Autoimmune Diseases · Infections · Diagnosis·Matched via name phrase
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.
"Combined immunodeficiency due to Moesin deficiency" OR "CID due to Moesin deficiency" OR "MSN-related combined immunodeficiency" OR "X-linked Moesin-associated immunodeficiency" OR "IMD50" OR "immunodeficiency 50" OR "immunodeficiency type 50"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Combined immunodeficiency due to Moesin deficiency" OR "CID due to Moesin deficiency" OR "MSN-related combined immunodeficiency" OR "X-linked Moesin-associated immunodeficiency" OR "IMD50" OR "immunodeficiency 50" OR "immunodeficiency type 50" OR "MSN"
Recall-expansion terms: MSN
Study-type breakdown: 0 interventional · 1 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 multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T17:47:46.218Z