ORPHA:228423
GATA2 deficiency spectrum
Also known as: GATA binding protein 2 deficiency spectrum
Publications
875
Trials
8
Interventional, condition-specific
Researchers
1,348
Distinct authors in sample
Gene link
GATA2
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic primary immunodeficiency characterized by profound circulating monocytopenia, B- and NK-cell lymphopenia and severe dentritic cell decrease, which manifests clinically with disseminated mycobacterial and viral infections, as well as opportunistic fungal and parasitic infections and frequent pulmonary alveolar proteinosis. Predisposition to developping myeloid neoplasms is associated.
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:0013607
- OMIM:614172
- UMLS:C3280030
Additional Mondo synonyms (3)
MonoMAC · immunodeficiency type 21 · monocytopenia and mycobacterial infection syndrome
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 — GATA2
- LiteraturePresent
875 matched papers (499 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
8 matched on ClinicalTrials.gov (3 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 (GATA2).
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?
875
875 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
875 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).
499 in the last 10 years · low confidence
Phrase hits: 875 · MeSH hits: 0
Who's working on it?
1,348
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.
- 01Holland SM10 papers · 2023
Division of Intramural Research, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), 10/11N248, MSC 1960, Bethesda, MD 20892-1960, USA.
Papers in Europe PMC - 02Huang H10 papers · 2024
Department of Cancer Biology, University of Cincinnati, Cincinnati, OH, 45219, USA.
Papers in Europe PMC - 03Quinn MT10 papers · 2025
Department of Microbiology and Immunology, Montana State University, Bozeman, MT, 59717, USA. Electronic address: mquinn@montana.edu.
Papers in Europe PMC - 04Schepetkin IA10 papers · 2025
Department of Microbiology and Immunology, Montana State University, Bozeman, MT, 59717, USA.
Papers in Europe PMC - 05Khlebnikov AI9 papers · 2025
Kizhner Research Center, Tomsk Polytechnic University, Tomsk, 634050, Russia; Scientific Research Institute of Biological Medicine, Altai State University, Barnaul, 656049, Russia.
Papers in Europe PMC - 06Kirpotina LN8 papers · 2023
Department of Microbiology and Immunology, Montana State University, Bozeman, MT, 59717, USA.
Papers in Europe PMC - 07Hsu AP7 papers · 2023
Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, USA.
Papers in Europe PMC - 08Li C7 papers · 2025
Department of Hematology, the First Affiliated Hospital Zhejiang University College of Medicine, Hangzhou, Zhejiang, 310003, China.
Papers in Europe PMC - 09Calvo KR6 papers · 2023
Hematology Section, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD.
Papers in Europe PMC - 10Chen J6 papers · 2020
Department of Cancer Biology, University of Cincinnati, Cincinnati, OH, 45219, USA. chen3jj@uc.edu.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
8
interventional trials for this specific condition
8 interventional trials matched this specific condition name; 3 currently recruiting in our sample.
Data as of 27 July 2026
8 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 90.6th percentile).
low confidence · 90.6th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
8 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT01861106·RECRUITING·Allogeneic Hematopoietic Stem Cell Transplant for GATA2 Mutations
Conditions: GATA2 · Immunodeficiency · MDS·Matched via recall expansion
- NCT07284641·RECRUITING·Hematopoietic Stem Cell Transplantation (HSCT) for Common Variable Immunodeficiency (CVID) and Other Autoimmune Manifestations of Primary Immune Regulatory Disorders (PIRD)
Conditions: Common Variable Immunodeficiency (CVID) · Primary Immune Regulatory Disorder · Immune Dysregulation · DiGeorge Syndrome·Matched via recall expansion
- NCT05983991·RECRUITING·Study for Characterisation of Predictive Parameters of Clonal Evolution in Subjects With GATA2 Germline Mutation
Conditions: GATA2 Gene Mutation·Matched via recall expansion
Observational and natural-history studies
3 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.
Recruiting or not-yet-recruiting
- NCT01905826·RECRUITING·Natural History Study of GATA2 Deficiency and Related Disorders
Conditions: GATA2 Deficiency·Matched via recall expansion
- NCT00001467·RECRUITING·Genetic Analysis of Immune Disorders
Conditions: DOK 8 · STAT1 · GATA2 · Immunodeficiency·Matched via recall expansion
- NCT01212055·RECRUITING·Apheresis of Patients With Immunodeficiency
Conditions: LAD-1 · DOCK8 · GATA2 Deficancy·Matched via recall expansion
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.
"GATA2 deficiency spectrum" OR "GATA binding protein 2 deficiency spectrum" OR "MonoMAC" OR "immunodeficiency type 21" OR "monocytopenia and mycobacterial infection syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"GATA2 deficiency spectrum" OR "GATA binding protein 2 deficiency spectrum" OR "MonoMAC" OR "immunodeficiency type 21" OR "monocytopenia and mycobacterial infection syndrome" OR "GATA2"
Recall-expansion terms: GATA2
Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 8 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
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 (875) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T10:10:41.231Z