High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia

Proper desensitization of CXCR4 is required for lymphocyte development and peripheral compartmentalization in mice

(2012) K. Balabanian et al.   BLOOD

Marked genetic heterogeneity in familial myelodysplasia/acute myeloid leukaemia

(2012) Harriet Holme et al.   BRITISH JOURNAL OF HAEMATOLOGY

Germ-line GATA2 p.THR354MET mutation in familial myelodysplastic syndrome with acquired monosomy 7 and ASXL1 mutation demonstrating rapid onset and poor survival

(2012) C. Bodor et al.   HAEMATOLOGICA

Neutrophil depletion impairs natural killer cell maturation, function, and homeostasis

(2012) Baptiste N. Jaeger et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature

(2011) J. Kazenwadel et al.   BLOOD

Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency

(2011) R. E. Dickinson et al.   BLOOD

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

(2011) A. P. Hsu et al.   BLOOD

Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)

(2011) Pia Ostergaard et al.   NATURE GENETICS

Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia

(2011) Christopher N Hahn et al.   NATURE GENETICS

Exome sequencing identifies somatic mutations of DNA methyltransferase gene DNMT3A in acute monocytic leukemia

(2011) Xiao-Jing Yan et al.   NATURE GENETICS

Congenital neutropenia: diagnosis, molecular bases and patient management

(2011) Jean Donadieu et al.   Orphanet Journal of Rare Diseases

Emberger syndrome-Primary lymphedema with myelodysplasia: Report of seven new cases

(2010) Sahar Mansour et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Two cases of disseminated Mycobacterium avium infection associated with a new immunodeficiency syndrome related to CXCR4 dysfunctions

(2010) A.-V. Doncker et al.   CLINICAL MICROBIOLOGY AND INFECTION

Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia

(2009) Michael Kirwan et al.   HUMAN MUTATION

Gain-of-function mutation of GATA-2 in acute myeloid transformation of chronic myeloid leukemia

(2008) S.-J. Zhang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA