Lista de obras -

(p47)-deficient chronic granulomatous disease: comprehensive genetic and flow cytometric analysis

artículo científico publicado en 2019

A review of innate and adaptive immunity to coccidioidomycosis

artículo científico publicado en 2019

Adenosine deaminase type 2 deficiency masquerading as GATA2 deficiency: Successful hematopoietic stem cell transplantation.

artículo científico publicado en 2016

Aspergillosis, eosinophilic esophagitis, and allergic rhinitis in signal transducer and activator of transcription 3 haploinsufficiency

artículo científico publicado en 2018

Association of GATA2 Deficiency With Severe Primary Epstein-Barr Virus (EBV) Infection and EBV-associated Cancers

artículo científico publicado en 2016

Autosomal Dominant Hyper IgE Syndrome

artículo científico publicado en 2012

Cis-element mutated in GATA2-dependent immunodeficiency governs hematopoiesis and vascular integrity

artículo científico publicado en 2012

Clonal Diversification and Changes in Lipid Traits and Colony Morphology in Mycobacterium abscessus Clinical Isolates

artículo científico publicado en 2015

Cytoskeletal abnormalities and neutrophil dysfunction in WDR1 deficiency

artículo científico publicado en 2016

Distinct mutations at the same positions of STAT3 cause either loss or gain of function

artículo científico publicado en 2016

Dominant activating RAC2 mutation with lymphopenia, immunodeficiency, and cytoskeletal defects

artículo científico publicado en 2019

Donor-derived MDS/AML in families with germline GATA2 mutation

scientific article published on 19 September 2018

Extrapulmonary Aspergillus infection in patients with CARD9 deficiency.

scientific article published on 20 October 2016

GATA2 deficiency underlying severe blastomycosis and fatal herpes simplex virus-associated hemophagocytic lymphohistiocytosis

artículo científico publicado en 2015

GATA2 deficiency-associated bone marrow disorder differs from idiopathic aplastic anemia.

artículo científico publicado en 2014

GATA2 deficiency.

artículo científico publicado en 2015

GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity.

artículo científico publicado en 2013

GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome

artículo científico publicado en 2013

Heterozygous activating mutation in RAC2 causes infantile-onset combined immunodeficiency with susceptibility to viral infections

artículo científico publicado en 2019

IKBKG (NEMO) 5' untranslated splice mutations lead to severe, chronic disseminated mycobacterial infections.

artículo científico publicado en 2018

IL2RG reversion event in a common lymphoid progenitor leads to delayed diagnosis and milder phenotype.

artículo científico publicado en 2015

Interleukin-12 receptor β1 deficiency predisposing to disseminated Coccidioidomycosis

artículo científico publicado en 2011

Intermediate phenotypes in patients with autosomal dominant hyper-IgE syndrome caused by somatic mosaicism ⬇️

artículo científico publicado el 25 de abril de 2013

Lymphocyte-driven regional immunopathology in pneumonitis caused by impaired central immune tolerance

artículo científico publicado en 2019

MonoMAC Syndrome Caused by a Novel GATA2 Mutation Successfully Treated by Allogeneic Hematopoietic Stem Cell Transplantation

scientific article published on 26 November 2018

Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.

artículo científico publicado en 2011

Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56(bright) subset.

artículo científico publicado en 2013

Persistent nodal histoplasmosis in nuclear factor kappa B essential modulator deficiency: Report of a case and review of infection in primary immunodeficiencies.

artículo científico publicado en 2016

Prospective Study of a Novel, Radiation-Free, Reduced-Intensity Bone Marrow Transplantation Platform for Primary Immunodeficiency Diseases

artículo científico publicado en 2019

Reversion mutations in patients with leukocyte adhesion deficiency type-1 (LAD-1)

artículo científico publicado en 2007

STAT1 Gain-of-Function Mutations Cause High Total STAT1 Levels With Normal Dephosphorylation

artículo científico publicado en 2019

STAT3 mutations in the hyper-IgE syndrome

artículo científico publicado en 2007

Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis ⬇️

artículo científico publicado el 28 de marzo de 2013

Somatic mutations in children with GATA2-associated myelodysplastic syndrome who lack other features of GATA2 deficiency

artículo científico publicado en 2017

Lista de obras de

(p47)-deficient chronic granulomatous disease: comprehensive genetic and flow cytometric analysis

A review of innate and adaptive immunity to coccidioidomycosis

Adenosine deaminase type 2 deficiency masquerading as GATA2 deficiency: Successful hematopoietic stem cell transplantation.

Aspergillosis, eosinophilic esophagitis, and allergic rhinitis in signal transducer and activator of transcription 3 haploinsufficiency

Association of GATA2 Deficiency With Severe Primary Epstein-Barr Virus (EBV) Infection and EBV-associated Cancers

Autosomal Dominant Hyper IgE Syndrome

Cis-element mutated in GATA2-dependent immunodeficiency governs hematopoiesis and vascular integrity

Clonal Diversification and Changes in Lipid Traits and Colony Morphology in Mycobacterium abscessus Clinical Isolates

Cytoskeletal abnormalities and neutrophil dysfunction in WDR1 deficiency

Distinct mutations at the same positions of STAT3 cause either loss or gain of function

Dominant activating RAC2 mutation with lymphopenia, immunodeficiency, and cytoskeletal defects

Donor-derived MDS/AML in families with germline GATA2 mutation

Extrapulmonary Aspergillus infection in patients with CARD9 deficiency.

GATA2 deficiency underlying severe blastomycosis and fatal herpes simplex virus-associated hemophagocytic lymphohistiocytosis

GATA2 deficiency-associated bone marrow disorder differs from idiopathic aplastic anemia.

GATA2 deficiency.

GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity.

GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome

Heterozygous activating mutation in RAC2 causes infantile-onset combined immunodeficiency with susceptibility to viral infections

IKBKG (NEMO) 5' untranslated splice mutations lead to severe, chronic disseminated mycobacterial infections.

IL2RG reversion event in a common lymphoid progenitor leads to delayed diagnosis and milder phenotype.

Interleukin-12 receptor β1 deficiency predisposing to disseminated Coccidioidomycosis

Intermediate phenotypes in patients with autosomal dominant hyper-IgE syndrome caused by somatic mosaicism ⬇️

Lymphocyte-driven regional immunopathology in pneumonitis caused by impaired central immune tolerance

MonoMAC Syndrome Caused by a Novel GATA2 Mutation Successfully Treated by Allogeneic Hematopoietic Stem Cell Transplantation

Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.

Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56(bright) subset.

Persistent nodal histoplasmosis in nuclear factor kappa B essential modulator deficiency: Report of a case and review of infection in primary immunodeficiencies.

Prospective Study of a Novel, Radiation-Free, Reduced-Intensity Bone Marrow Transplantation Platform for Primary Immunodeficiency Diseases

Reversion mutations in patients with leukocyte adhesion deficiency type-1 (LAD-1)

STAT1 Gain-of-Function Mutations Cause High Total STAT1 Levels With Normal Dephosphorylation

STAT3 mutations in the hyper-IgE syndrome

Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis ⬇️

Somatic mutations in children with GATA2-associated myelodysplastic syndrome who lack other features of GATA2 deficiency