LymphedemaV1, Main, Exploration, bibRecord, 004C99

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

Identifieur interne : 004C99 ( Main/Exploration ); précédent : 004C98; suivant : 004D00

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

Auteurs : Amy P. Hsu [États-Unis] ; Elizabeth P. Sampaio [États-Unis] ; Javed Khan [États-Unis] ; Katherine R. Calvo [États-Unis] ; Jacob E. Lemieux [États-Unis] ; Smita Y. Patel [Royaume-Uni] ; David M. Frucht [États-Unis] ; Donald C. Vinh [États-Unis] ; Roger D. Auth [États-Unis] ; Alexandra F. Freeman [États-Unis] ; Kenneth N. Olivier [États-Unis] ; Gulbu Uzel [États-Unis] ; Christa S. Zerbe [États-Unis] ; Christine Spalding [États-Unis] ; Stefania Pittaluga [États-Unis] ; Mark Raffeld [États-Unis] ; Douglas B. Kuhns [États-Unis] ; Li Ding [États-Unis] ; Michelle L. Paulson [États-Unis] ; Beatriz E. Marciano [États-Unis] ; Juan C. Gea-Banacloche [États-Unis] ; Jordan S. Orange [États-Unis] ; Jennifer Cuellar-Rodriguez [États-Unis] ; Dennis D. Hickstein [États-Unis] ; Steven M. Holland [États-Unis]

Source :

Blood [ 0006-4971 ] ; 2011.

RBID : PMC:3172785

Abstract

The syndrome of monocytopenia, B-cell and NK-cell lymphopenia, and mycobacterial, fungal, and viral infections is associated with myelodysplasia, cytogenetic abnormalities, pulmonary alveolar proteinosis, and myeloid leukemias. Both autosomal dominant and sporadic cases occur. We identified 12 distinct mutations in GATA2 affecting 20 patients and relatives with this syndrome, including recurrent missense mutations affecting the zinc finger-2 domain (R398W and T354M), suggesting dominant interference of gene function. Four discrete insertion/deletion mutations leading to frame shifts and premature termination implicate haploinsufficiency as a possible mechanism of action as well. These mutations were found in hematopoietic and somatic tissues, and several were identified in families, indicating germline transmission. Thus, GATA2 joins RUNX1 and CEBPA not only as a familial leukemia gene but also as a cause of a complex congenital immunodeficiency that evolves over decades and combines predisposition to infection and myeloid malignancy.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3172785

DOI: 10.1182/blood-2011-05-356352
PubMed: 21670465
PubMed Central: 3172785

Affiliations:

Le document en format XML

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 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome</title>
<author><name sortKey="Hsu, Amy P" sort="Hsu, Amy P" uniqKey="Hsu A" first="Amy P." last="Hsu">Amy P. Hsu</name>
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<placeName><region type="state">Maryland</region>
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<wicri:cityArea>Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda</wicri:cityArea>
</affiliation>
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<author><name sortKey="Sampaio, Elizabeth P" sort="Sampaio, Elizabeth P" uniqKey="Sampaio E" first="Elizabeth P." last="Sampaio">Elizabeth P. Sampaio</name>
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<author><name sortKey="Khan, Javed" sort="Khan, Javed" uniqKey="Khan J" first="Javed" last="Khan">Javed Khan</name>
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<author><name sortKey="Calvo, Katherine R" sort="Calvo, Katherine R" uniqKey="Calvo K" first="Katherine R." last="Calvo">Katherine R. Calvo</name>
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<author><name sortKey="Lemieux, Jacob E" sort="Lemieux, Jacob E" uniqKey="Lemieux J" first="Jacob E." last="Lemieux">Jacob E. Lemieux</name>
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<author><name sortKey="Patel, Smita Y" sort="Patel, Smita Y" uniqKey="Patel S" first="Smita Y." last="Patel">Smita Y. Patel</name>
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<author><name sortKey="Frucht, David M" sort="Frucht, David M" uniqKey="Frucht D" first="David M." last="Frucht">David M. Frucht</name>
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<author><name sortKey="Vinh, Donald C" sort="Vinh, Donald C" uniqKey="Vinh D" first="Donald C." last="Vinh">Donald C. Vinh</name>
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<placeName><region type="state">Maryland</region>
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<author><name sortKey="Auth, Roger D" sort="Auth, Roger D" uniqKey="Auth R" first="Roger D." last="Auth">Roger D. Auth</name>
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<author><name sortKey="Freeman, Alexandra F" sort="Freeman, Alexandra F" uniqKey="Freeman A" first="Alexandra F." last="Freeman">Alexandra F. Freeman</name>
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<author><name sortKey="Olivier, Kenneth N" sort="Olivier, Kenneth N" uniqKey="Olivier K" first="Kenneth N." last="Olivier">Kenneth N. Olivier</name>
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<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
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<author><name sortKey="Uzel, Gulbu" sort="Uzel, Gulbu" uniqKey="Uzel G" first="Gulbu" last="Uzel">Gulbu Uzel</name>
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<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
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</author>
<author><name sortKey="Zerbe, Christa S" sort="Zerbe, Christa S" uniqKey="Zerbe C" first="Christa S." last="Zerbe">Christa S. Zerbe</name>
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<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
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<wicri:cityArea>Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Spalding, Christine" sort="Spalding, Christine" uniqKey="Spalding C" first="Christine" last="Spalding">Christine Spalding</name>
<affiliation wicri:level="2"><nlm:aff id="aff1">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD;</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Pittaluga, Stefania" sort="Pittaluga, Stefania" uniqKey="Pittaluga S" first="Stefania" last="Pittaluga">Stefania Pittaluga</name>
<affiliation wicri:level="2"><nlm:aff id="aff7">Laboratory of Pathology, NCI, Bethesda, MD;</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Laboratory of Pathology, NCI, Bethesda</wicri:cityArea>
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<author><name sortKey="Raffeld, Mark" sort="Raffeld, Mark" uniqKey="Raffeld M" first="Mark" last="Raffeld">Mark Raffeld</name>
<affiliation wicri:level="2"><nlm:aff id="aff7">Laboratory of Pathology, NCI, Bethesda, MD;</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Laboratory of Pathology, NCI, Bethesda</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Kuhns, Douglas B" sort="Kuhns, Douglas B" uniqKey="Kuhns D" first="Douglas B." last="Kuhns">Douglas B. Kuhns</name>
<affiliation wicri:level="2"><nlm:aff id="aff8">SAIC-Frederick Inc, NCI-Frederick, Frederick, MD;</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>SAIC-Frederick Inc, NCI-Frederick, Frederick</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Ding, Li" sort="Ding, Li" uniqKey="Ding L" first="Li" last="Ding">Li Ding</name>
<affiliation wicri:level="2"><nlm:aff id="aff1">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD;</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Paulson, Michelle L" sort="Paulson, Michelle L" uniqKey="Paulson M" first="Michelle L." last="Paulson">Michelle L. Paulson</name>
<affiliation wicri:level="2"><nlm:aff id="aff1">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD;</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda</wicri:cityArea>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="aff8">SAIC-Frederick Inc, NCI-Frederick, Frederick, MD;</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>SAIC-Frederick Inc, NCI-Frederick, Frederick</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Marciano, Beatriz E" sort="Marciano, Beatriz E" uniqKey="Marciano B" first="Beatriz E." last="Marciano">Beatriz E. Marciano</name>
<affiliation wicri:level="2"><nlm:aff id="aff1">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD;</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Gea Banacloche, Juan C" sort="Gea Banacloche, Juan C" uniqKey="Gea Banacloche J" first="Juan C." last="Gea-Banacloche">Juan C. Gea-Banacloche</name>
<affiliation wicri:level="2"><nlm:aff wicri:cut="; and" id="aff9">Experimental Transplantation and Immunology Branch, NCI, Bethesda, MD</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Experimental Transplantation and Immunology Branch, NCI, Bethesda</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Orange, Jordan S" sort="Orange, Jordan S" uniqKey="Orange J" first="Jordan S." last="Orange">Jordan S. Orange</name>
<affiliation wicri:level="2"><nlm:aff id="aff10">Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Pennsylvanie</region>
</placeName>
<wicri:cityArea>Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Cuellar Rodriguez, Jennifer" sort="Cuellar Rodriguez, Jennifer" uniqKey="Cuellar Rodriguez J" first="Jennifer" last="Cuellar-Rodriguez">Jennifer Cuellar-Rodriguez</name>
<affiliation wicri:level="2"><nlm:aff id="aff1">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD;</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Hickstein, Dennis D" sort="Hickstein, Dennis D" uniqKey="Hickstein D" first="Dennis D." last="Hickstein">Dennis D. Hickstein</name>
<affiliation wicri:level="2"><nlm:aff wicri:cut="; and" id="aff9">Experimental Transplantation and Immunology Branch, NCI, Bethesda, MD</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Experimental Transplantation and Immunology Branch, NCI, Bethesda</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Holland, Steven M" sort="Holland, Steven M" uniqKey="Holland S" first="Steven M." last="Holland">Steven M. Holland</name>
<affiliation wicri:level="2"><nlm:aff id="aff1">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD;</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda</wicri:cityArea>
</affiliation>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Mutations in <italic>GATA2</italic>
 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome</title>
<author><name sortKey="Hsu, Amy P" sort="Hsu, Amy P" uniqKey="Hsu A" first="Amy P." last="Hsu">Amy P. Hsu</name>
<affiliation wicri:level="2"><nlm:aff id="aff1">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD;</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Sampaio, Elizabeth P" sort="Sampaio, Elizabeth P" uniqKey="Sampaio E" first="Elizabeth P." last="Sampaio">Elizabeth P. Sampaio</name>
<affiliation wicri:level="2"><nlm:aff id="aff1">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD;</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Khan, Javed" sort="Khan, Javed" uniqKey="Khan J" first="Javed" last="Khan">Javed Khan</name>
<affiliation wicri:level="2"><nlm:aff id="aff2">Oncogenomics Section, Pediatric Oncology Branch, National Cancer Institute (NCI), Bethesda, MD;</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Oncogenomics Section, Pediatric Oncology Branch, National Cancer Institute (NCI), Bethesda</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Calvo, Katherine R" sort="Calvo, Katherine R" uniqKey="Calvo K" first="Katherine R." last="Calvo">Katherine R. Calvo</name>
<affiliation wicri:level="2"><nlm:aff id="aff3">Hematology Section, Department of Laboratory Medicine, Warren Grant Magnuson Clinical Cancer Center, Bethesda, MD;</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Hematology Section, Department of Laboratory Medicine, Warren Grant Magnuson Clinical Cancer Center, Bethesda</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Lemieux, Jacob E" sort="Lemieux, Jacob E" uniqKey="Lemieux J" first="Jacob E." last="Lemieux">Jacob E. Lemieux</name>
<affiliation wicri:level="2"><nlm:aff id="aff4">Laboratory of Malaria and Vector Research, NIAID, NIH, Bethesda, MD;</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Laboratory of Malaria and Vector Research, NIAID, NIH, Bethesda</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Patel, Smita Y" sort="Patel, Smita Y" uniqKey="Patel S" first="Smita Y." last="Patel">Smita Y. Patel</name>
<affiliation wicri:level="3"><nlm:aff id="aff5">John Radcliffe Hospital, Oxford University, Oxford, United Kingdom;</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>John Radcliffe Hospital, Oxford University, Oxford</wicri:regionArea>
<placeName><settlement type="city">Oxford</settlement>
<region type="country">Angleterre</region>
<region type="comté" nuts="2">Oxfordshire</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Frucht, David M" sort="Frucht, David M" uniqKey="Frucht D" first="David M." last="Frucht">David M. Frucht</name>
<affiliation wicri:level="2"><nlm:aff id="aff6">Center for Drug Evaluation and Research, Federal Drug Administration, Silver Spring, MD;</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Center for Drug Evaluation and Research, Federal Drug Administration, Silver Spring</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Vinh, Donald C" sort="Vinh, Donald C" uniqKey="Vinh D" first="Donald C." last="Vinh">Donald C. Vinh</name>
<affiliation wicri:level="2"><nlm:aff id="aff1">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD;</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Auth, Roger D" sort="Auth, Roger D" uniqKey="Auth R" first="Roger D." last="Auth">Roger D. Auth</name>
<affiliation wicri:level="2"><nlm:aff id="aff6">Center for Drug Evaluation and Research, Federal Drug Administration, Silver Spring, MD;</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Center for Drug Evaluation and Research, Federal Drug Administration, Silver Spring</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Freeman, Alexandra F" sort="Freeman, Alexandra F" uniqKey="Freeman A" first="Alexandra F." last="Freeman">Alexandra F. Freeman</name>
<affiliation wicri:level="2"><nlm:aff id="aff1">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD;</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Olivier, Kenneth N" sort="Olivier, Kenneth N" uniqKey="Olivier K" first="Kenneth N." last="Olivier">Kenneth N. Olivier</name>
<affiliation wicri:level="2"><nlm:aff id="aff1">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD;</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Uzel, Gulbu" sort="Uzel, Gulbu" uniqKey="Uzel G" first="Gulbu" last="Uzel">Gulbu Uzel</name>
<affiliation wicri:level="2"><nlm:aff id="aff1">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD;</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Zerbe, Christa S" sort="Zerbe, Christa S" uniqKey="Zerbe C" first="Christa S." last="Zerbe">Christa S. Zerbe</name>
<affiliation wicri:level="2"><nlm:aff id="aff1">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD;</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Spalding, Christine" sort="Spalding, Christine" uniqKey="Spalding C" first="Christine" last="Spalding">Christine Spalding</name>
<affiliation wicri:level="2"><nlm:aff id="aff1">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD;</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Pittaluga, Stefania" sort="Pittaluga, Stefania" uniqKey="Pittaluga S" first="Stefania" last="Pittaluga">Stefania Pittaluga</name>
<affiliation wicri:level="2"><nlm:aff id="aff7">Laboratory of Pathology, NCI, Bethesda, MD;</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Laboratory of Pathology, NCI, Bethesda</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Raffeld, Mark" sort="Raffeld, Mark" uniqKey="Raffeld M" first="Mark" last="Raffeld">Mark Raffeld</name>
<affiliation wicri:level="2"><nlm:aff id="aff7">Laboratory of Pathology, NCI, Bethesda, MD;</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Laboratory of Pathology, NCI, Bethesda</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Kuhns, Douglas B" sort="Kuhns, Douglas B" uniqKey="Kuhns D" first="Douglas B." last="Kuhns">Douglas B. Kuhns</name>
<affiliation wicri:level="2"><nlm:aff id="aff8">SAIC-Frederick Inc, NCI-Frederick, Frederick, MD;</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>SAIC-Frederick Inc, NCI-Frederick, Frederick</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Ding, Li" sort="Ding, Li" uniqKey="Ding L" first="Li" last="Ding">Li Ding</name>
<affiliation wicri:level="2"><nlm:aff id="aff1">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD;</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Paulson, Michelle L" sort="Paulson, Michelle L" uniqKey="Paulson M" first="Michelle L." last="Paulson">Michelle L. Paulson</name>
<affiliation wicri:level="2"><nlm:aff id="aff1">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD;</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda</wicri:cityArea>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="aff8">SAIC-Frederick Inc, NCI-Frederick, Frederick, MD;</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>SAIC-Frederick Inc, NCI-Frederick, Frederick</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Marciano, Beatriz E" sort="Marciano, Beatriz E" uniqKey="Marciano B" first="Beatriz E." last="Marciano">Beatriz E. Marciano</name>
<affiliation wicri:level="2"><nlm:aff id="aff1">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD;</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Gea Banacloche, Juan C" sort="Gea Banacloche, Juan C" uniqKey="Gea Banacloche J" first="Juan C." last="Gea-Banacloche">Juan C. Gea-Banacloche</name>
<affiliation wicri:level="2"><nlm:aff wicri:cut="; and" id="aff9">Experimental Transplantation and Immunology Branch, NCI, Bethesda, MD</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Experimental Transplantation and Immunology Branch, NCI, Bethesda</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Orange, Jordan S" sort="Orange, Jordan S" uniqKey="Orange J" first="Jordan S." last="Orange">Jordan S. Orange</name>
<affiliation wicri:level="2"><nlm:aff id="aff10">Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Pennsylvanie</region>
</placeName>
<wicri:cityArea>Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Cuellar Rodriguez, Jennifer" sort="Cuellar Rodriguez, Jennifer" uniqKey="Cuellar Rodriguez J" first="Jennifer" last="Cuellar-Rodriguez">Jennifer Cuellar-Rodriguez</name>
<affiliation wicri:level="2"><nlm:aff id="aff1">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD;</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Hickstein, Dennis D" sort="Hickstein, Dennis D" uniqKey="Hickstein D" first="Dennis D." last="Hickstein">Dennis D. Hickstein</name>
<affiliation wicri:level="2"><nlm:aff wicri:cut="; and" id="aff9">Experimental Transplantation and Immunology Branch, NCI, Bethesda, MD</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Experimental Transplantation and Immunology Branch, NCI, Bethesda</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Holland, Steven M" sort="Holland, Steven M" uniqKey="Holland S" first="Steven M." last="Holland">Steven M. Holland</name>
<affiliation wicri:level="2"><nlm:aff id="aff1">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD;</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda</wicri:cityArea>
</affiliation>
</author>
</analytic>
<series><title level="j">Blood</title>
<idno type="ISSN">0006-4971</idno>
<idno type="eISSN">1528-0020</idno>
<imprint><date when="2011">2011</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p>The syndrome of monocytopenia, B-cell and NK-cell lymphopenia, and mycobacterial, fungal, and viral infections is associated with myelodysplasia, cytogenetic abnormalities, pulmonary alveolar proteinosis, and myeloid leukemias. Both autosomal dominant and sporadic cases occur. We identified 12 distinct mutations in <italic>GATA2</italic>
 affecting 20 patients and relatives with this syndrome, including recurrent missense mutations affecting the zinc finger-2 domain (R398W and T354M), suggesting dominant interference of gene function. Four discrete insertion/deletion mutations leading to frame shifts and premature termination implicate haploinsufficiency as a possible mechanism of action as well. These mutations were found in hematopoietic and somatic tissues, and several were identified in families, indicating germline transmission. Thus, <italic>GATA2</italic>
 joins <italic>RUNX1</italic>
 and <italic>CEBPA</italic>
 not only as a familial leukemia gene but also as a cause of a complex congenital immunodeficiency that evolves over decades and combines predisposition to infection and myeloid malignancy.</p>
</div>
</front>
</TEI>
<affiliations><list><country><li>Royaume-Uni</li>
<li>États-Unis</li>
</country>
<region><li>Angleterre</li>
<li>Maryland</li>
<li>Oxfordshire</li>
<li>Pennsylvanie</li>
</region>
<settlement><li>Oxford</li>
</settlement>
</list>
<tree><country name="États-Unis"><region name="Maryland"><name sortKey="Hsu, Amy P" sort="Hsu, Amy P" uniqKey="Hsu A" first="Amy P." last="Hsu">Amy P. Hsu</name>
</region>
<name sortKey="Auth, Roger D" sort="Auth, Roger D" uniqKey="Auth R" first="Roger D." last="Auth">Roger D. Auth</name>
<name sortKey="Calvo, Katherine R" sort="Calvo, Katherine R" uniqKey="Calvo K" first="Katherine R." last="Calvo">Katherine R. Calvo</name>
<name sortKey="Cuellar Rodriguez, Jennifer" sort="Cuellar Rodriguez, Jennifer" uniqKey="Cuellar Rodriguez J" first="Jennifer" last="Cuellar-Rodriguez">Jennifer Cuellar-Rodriguez</name>
<name sortKey="Ding, Li" sort="Ding, Li" uniqKey="Ding L" first="Li" last="Ding">Li Ding</name>
<name sortKey="Freeman, Alexandra F" sort="Freeman, Alexandra F" uniqKey="Freeman A" first="Alexandra F." last="Freeman">Alexandra F. Freeman</name>
<name sortKey="Frucht, David M" sort="Frucht, David M" uniqKey="Frucht D" first="David M." last="Frucht">David M. Frucht</name>
<name sortKey="Gea Banacloche, Juan C" sort="Gea Banacloche, Juan C" uniqKey="Gea Banacloche J" first="Juan C." last="Gea-Banacloche">Juan C. Gea-Banacloche</name>
<name sortKey="Hickstein, Dennis D" sort="Hickstein, Dennis D" uniqKey="Hickstein D" first="Dennis D." last="Hickstein">Dennis D. Hickstein</name>
<name sortKey="Holland, Steven M" sort="Holland, Steven M" uniqKey="Holland S" first="Steven M." last="Holland">Steven M. Holland</name>
<name sortKey="Khan, Javed" sort="Khan, Javed" uniqKey="Khan J" first="Javed" last="Khan">Javed Khan</name>
<name sortKey="Kuhns, Douglas B" sort="Kuhns, Douglas B" uniqKey="Kuhns D" first="Douglas B." last="Kuhns">Douglas B. Kuhns</name>
<name sortKey="Lemieux, Jacob E" sort="Lemieux, Jacob E" uniqKey="Lemieux J" first="Jacob E." last="Lemieux">Jacob E. Lemieux</name>
<name sortKey="Marciano, Beatriz E" sort="Marciano, Beatriz E" uniqKey="Marciano B" first="Beatriz E." last="Marciano">Beatriz E. Marciano</name>
<name sortKey="Olivier, Kenneth N" sort="Olivier, Kenneth N" uniqKey="Olivier K" first="Kenneth N." last="Olivier">Kenneth N. Olivier</name>
<name sortKey="Orange, Jordan S" sort="Orange, Jordan S" uniqKey="Orange J" first="Jordan S." last="Orange">Jordan S. Orange</name>
<name sortKey="Paulson, Michelle L" sort="Paulson, Michelle L" uniqKey="Paulson M" first="Michelle L." last="Paulson">Michelle L. Paulson</name>
<name sortKey="Paulson, Michelle L" sort="Paulson, Michelle L" uniqKey="Paulson M" first="Michelle L." last="Paulson">Michelle L. Paulson</name>
<name sortKey="Pittaluga, Stefania" sort="Pittaluga, Stefania" uniqKey="Pittaluga S" first="Stefania" last="Pittaluga">Stefania Pittaluga</name>
<name sortKey="Raffeld, Mark" sort="Raffeld, Mark" uniqKey="Raffeld M" first="Mark" last="Raffeld">Mark Raffeld</name>
<name sortKey="Sampaio, Elizabeth P" sort="Sampaio, Elizabeth P" uniqKey="Sampaio E" first="Elizabeth P." last="Sampaio">Elizabeth P. Sampaio</name>
<name sortKey="Spalding, Christine" sort="Spalding, Christine" uniqKey="Spalding C" first="Christine" last="Spalding">Christine Spalding</name>
<name sortKey="Uzel, Gulbu" sort="Uzel, Gulbu" uniqKey="Uzel G" first="Gulbu" last="Uzel">Gulbu Uzel</name>
<name sortKey="Vinh, Donald C" sort="Vinh, Donald C" uniqKey="Vinh D" first="Donald C." last="Vinh">Donald C. Vinh</name>
<name sortKey="Zerbe, Christa S" sort="Zerbe, Christa S" uniqKey="Zerbe C" first="Christa S." last="Zerbe">Christa S. Zerbe</name>
</country>
<country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Patel, Smita Y" sort="Patel, Smita Y" uniqKey="Patel S" first="Smita Y." last="Patel">Smita Y. Patel</name>
</region>
</country>
</tree>
</affiliations>
</record>

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

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

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