Trial reportHaematologica2011
Myelodysplasia in autosomal dominant and sporadic monocytopenia immunodeficiency syndrome: diagnostic features and clinical implications.
Trial report in Haematologica, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 3 registered trials, which are not on this map. Cited by 63 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Natural History, Genetics, Phenotype, and Treatment of Mycobacterial Infections
Pilot and Feasibility Study of Reduced-Intensity Hematopoietic Stem Cell Transplant for Patients With GATA2 Mutations
Apheresis and CD34+ Selection of Mobilized Peripheral Blood CD34+ Cells From Patients With DOCK8 Deficiency, LAD-1, and GATA2 Deficiency
Who cites it
63 citing papers in PubMed, 1 synthesis or guideline pooled it, 112 citations in OpenAlex.
- Rheumatologic manifestations of the "MonoMAC" syndrome. a systematic review.Clinical rheumatology · 2015Pooled it
- Bone marrow immunophenotyping by flow cytometry in refractory cytopenia of childhood.Haematologica · 2015Trial
- Trial
- Review
- Pediatric MDS in GATA2 deficiency, narrowing the scope.Blood cancer journal · 2025Article
- Diagnostic features in paediatric MDS-EB with UBTF-internal tandem duplication: defining a unique subgroup.Histopathology · 2025Article
- Bone Marrow CD8 + Abundance Inversely Correlates with Progressive Marrow Fibrosis and Myelodysplastic Evolution in GATA2 Deficiency: Case Report.Journal of clinical immunology · 2025Article
- Inherited Predispositions to Myeloid Neoplasms: Pathogenesis and Clinical Implications.Annual review of pathology · 2025Review
- [Allogeneic hematopoietic stem cell transplantation in a patient with MonoMAC syndrome and hematopoietic dysplasia which was induced by GATA2 deficiency: a case report and literature review].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2024Review
- Article
- A novel GATA2 distal enhancer mutation results in MonoMAC syndrome in 2 second cousins.Blood advances · 2023Article
- Review
- The spectrum of GATA2 deficiency syndrome.Blood · 2023Article
- Of Mycelium and Men: Inherent Human Susceptibility to Fungal Diseases.Pathogens (Basel, Switzerland) · 2023Review
- EAHP 2020 workshop proceedings, pediatric myeloid neoplasms.Virchows Archiv : an international journal of pathology · 2022Article
- miR-181c regulates MCL1 and cell survival in GATA2 deficient cells.Journal of leukocyte biology · 2022Article
- ASXL1 and STAG2 are common mutations in GATA2 deficiency patients with bone marrow disease and myelodysplastic syndrome.Blood advances · 2022Article
- Approach to the diagnosis of aplastic anemia.Blood advances · 2021Review
- Donor-derived myelodysplastic syndrome after allogeneic stem cell transplantation in a family with germline GATA2 mutation.International journal of hematology · 2021Article
- Constructing and deconstructing GATA2-regulated cell fate programs to establish developmental trajectories.The Journal of experimental medicine · 2020Article
3 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
15 authors at 5 institutions in 1 country.
Funding
Abstract
A novel, genetic immunodeficiency syndrome has been recently described, herein termed "MonoMAC". It is characterized by severe circulating monocytopenia, NK- and B-lymphocytopenia, severe infections with M. avium complex (MAC), and risk of progression to myelodysplasia/acute myelogenous leukemia. Detailed bone marrow analyses performed on 18 patients further define this disorder. The majority of patients had hypocellular marrows with reticulin fibrosis and multilineage dysplasia affecting the myeloid (72%), erythroid (83%) and megakaryocytic (100%) lineages. Cytogenetic abnormalities were present in 10 of 17 (59%). Despite B-lymphocytopenia, plasma cells were present but were abnormal (e.g. CD56(+)) in nearly half of cases. Increased T-cell large granular lymphocyte populations were present in 28% of patients. Chromosomal breakage studies, cell cycle checkpoint functions, and sequencing of TERT and K-RAS genes revealed no abnormalities. MonoMAC appears to be a unique, inherited syndrome of bone marrow failure. We describe distinctive bone marrow features to help in its recognition and diagnosis. (Clinicaltrials.gov identifiers: NCT00018044, NCT00923364, NCT01212055).
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.