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GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndromeMutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.Interleukin-12 receptor β1 deficiency predisposing to disseminated CoccidioidomycosisGATA2 deficiency-associated bone marrow disorder differs from idiopathic aplastic anemia.GATA2 deficiency.Clonal Diversification and Changes in Lipid Traits and Colony Morphology in Mycobacterium abscessus Clinical Isolates.IL2RG reversion event in a common lymphoid progenitor leads to delayed diagnosis and milder phenotype.Reversion mutations in patients with leukocyte adhesion deficiency type-1 (LAD-1)GATA2 deficiency underlying severe blastomycosis and fatal herpes simplex virus-associated hemophagocytic lymphohistiocytosisMutations in GATA2 cause human NK cell deficiency with specific loss of the CD56(bright) subset.Association of GATA2 Deficiency With Severe Primary Epstein-Barr Virus (EBV) Infection and EBV-associated Cancers.Extrapulmonary Aspergillus infection in patients with CARD9 deficiency.GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity.Persistent nodal histoplasmosis in nuclear factor kappa B essential modulator deficiency: Report of a case and review of infection in primary immunodeficiencies.Cytoskeletal abnormalities and neutrophil dysfunction in WDR1 deficiencyDistinct mutations at the same positions of STAT3 cause either loss or gain of function.Adenosine deaminase type 2 deficiency masquerading as GATA2 deficiency: Successful hematopoietic stem cell transplantation.IKBKG (NEMO) 5' untranslated splice mutations lead to severe, chronic disseminated mycobacterial infections.(p47)-deficient chronic granulomatous disease: comprehensive genetic and flow cytometric analysisAspergillosis, eosinophilic esophagitis, and allergic rhinitis in signal transducer and activator of transcription 3 haploinsufficiencySomatic mutations in children with GATA2-associated myelodysplastic syndrome who lack other features of GATA2 deficiencyA review of innate and adaptive immunity to coccidioidomycosisDominant activating RAC2 mutation with lymphopenia, immunodeficiency, and cytoskeletal defectsDonor-derived MDS/AML in families with germline GATA2 mutationHeterozygous activating mutation in RAC2 causes infantile-onset combined immunodeficiency with susceptibility to viral infectionsSTAT1 Gain-of-Function Mutations Cause High Total STAT1 Levels With Normal DephosphorylationLymphocyte-driven regional immunopathology in pneumonitis caused by impaired central immune toleranceProspective Study of a Novel, Radiation-Free, Reduced-Intensity Bone Marrow Transplantation Platform for Primary Immunodeficiency DiseasesMonoMAC Syndrome Caused by a Novel GATA2 Mutation Successfully Treated by Allogeneic Hematopoietic Stem Cell TransplantationAutosomal Dominant Hyper IgE Syndrome
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description
investigador
@es
researcher
@en
wetenschapper
@nl
name
Amy P Hsu
@en
Amy P Hsu
@nl
type
label
Amy P Hsu
@en
Amy P Hsu
@nl
prefLabel
Amy P Hsu
@en
Amy P Hsu
@nl
P31
P496
0000-0001-6841-2122