Generalized verrucosis in a patient with GATA2 deficiency.
Identifieur interne : 001766 ( PubMed/Curation ); précédent : 001765; suivant : 001767Generalized verrucosis in a patient with GATA2 deficiency.
Auteurs : E S West [États-Unis] ; M Y Kingsbery ; E M Mintz ; A P Hsu ; S M Holland ; P L Rady ; S K Tyring ; M E GrossmanSource :
- The British journal of dermatology [ 1365-2133 ] ; 2014.
Descripteurs français
- KwdFr :
- MESH :
- déficit : Facteur de transcription GATA-2.
- génétique : Déficits immunitaires, Facteur de transcription GATA-2, Mutation, Tumeurs cutanées, Verrues.
- Humains, Jeune adulte, Mâle, Pedigree.
English descriptors
- KwdEn :
- MESH :
- chemical , deficiency : GATA2 Transcription Factor.
- chemical , genetics : GATA2 Transcription Factor.
- genetics : Immunologic Deficiency Syndromes, Mutation, Skin Neoplasms, Warts.
- Humans, Male, Pedigree, Young Adult.
Abstract
Generalized verrucosis is a characteristic of several genetic and immunodeficiency disorders including epidermodysplasia verruciformis; warts, hypogammaglobulinaemia, infections and myelokathexis (WHIM) syndrome; warts, immunodeficiency, lymphoedema and anogenital dysplasia (WILD) syndrome; severe combined immune deficiency and HIV, among others. In recent years, it has been consistently recognized in patients with GATA2 deficiency, a novel immunodeficiency syndrome characterized by monocytopenia, B-cell and natural killer-cell lymphopenia, and a tendency to develop myeloid leukaemias and disseminated mycobacterial, human papillomavirus (HPV) and opportunistic fungal infections. Mutations in GATA2 cause haploinsufficiency and track in families as an autosomal dominant immunodeficiency. GATA2 is a transcription factor involved in early haematopoietic differentiation and lymphatic and vascular development. We describe a case of generalized verrucosis with HPV type 57 presenting in a young man with GATA2 deficiency. GATA2 deficiency is a novel dominant immunodeficiency that is often recognized later in life and should be considered in the differential diagnosis of patients with generalized verrucosis.
DOI: 10.1111/bjd.12794
PubMed: 24359037
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(genetics)</term><term>Humans</term><term>Immunologic Deficiency Syndromes (genetics)</term><term>Male</term><term>Mutation (genetics)</term><term>Pedigree</term><term>Skin Neoplasms (genetics)</term><term>Warts (genetics)</term><term>Young Adult</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Déficits immunitaires (génétique)</term><term>Facteur de transcription GATA-2 (déficit)</term><term>Facteur de transcription GATA-2 (génétique)</term><term>Humains</term><term>Jeune adulte</term><term>Mutation (génétique)</term><term>Mâle</term><term>Pedigree</term><term>Tumeurs cutanées (génétique)</term><term>Verrues (génétique)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="deficiency" xml:lang="en"><term>GATA2 Transcription Factor</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>GATA2 Transcription Factor</term></keywords><keywords scheme="MESH" qualifier="déficit" xml:lang="fr"><term>Facteur de transcription GATA-2</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Immunologic Deficiency Syndromes</term><term>Mutation</term><term>Skin Neoplasms</term><term>Warts</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Déficits immunitaires</term><term>Facteur de transcription GATA-2</term><term>Mutation</term><term>Tumeurs cutanées</term><term>Verrues</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Humans</term><term>Male</term><term>Pedigree</term><term>Young Adult</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Humains</term><term>Jeune adulte</term><term>Mâle</term><term>Pedigree</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Generalized verrucosis is a characteristic of several genetic and immunodeficiency disorders including epidermodysplasia verruciformis; warts, hypogammaglobulinaemia, infections and myelokathexis (WHIM) syndrome; warts, immunodeficiency, lymphoedema and anogenital dysplasia (WILD) syndrome; severe combined immune deficiency and HIV, among others. In recent years, it has been consistently recognized in patients with GATA2 deficiency, a novel immunodeficiency syndrome characterized by monocytopenia, B-cell and natural killer-cell lymphopenia, and a tendency to develop myeloid leukaemias and disseminated mycobacterial, human papillomavirus (HPV) and opportunistic fungal infections. Mutations in GATA2 cause haploinsufficiency and track in families as an autosomal dominant immunodeficiency. GATA2 is a transcription factor involved in early haematopoietic differentiation and lymphatic and vascular development. We describe a case of generalized verrucosis with HPV type 57 presenting in a young man with GATA2 deficiency. GATA2 deficiency is a novel dominant immunodeficiency that is often recognized later in life and should be considered in the differential diagnosis of patients with generalized verrucosis.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">24359037</PMID><DateCreated><Year>2014</Year><Month>05</Month><Day>20</Day></DateCreated><DateCompleted><Year>2015</Year><Month>01</Month><Day>12</Day></DateCompleted><DateRevised><Year>2015</Year><Month>08</Month><Day>13</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1365-2133</ISSN><JournalIssue CitedMedium="Internet"><Volume>170</Volume><Issue>5</Issue><PubDate><Year>2014</Year><Month>May</Month></PubDate></JournalIssue><Title>The British journal of dermatology</Title><ISOAbbreviation>Br. J. Dermatol.</ISOAbbreviation></Journal><ArticleTitle>Generalized verrucosis in a patient with GATA2 deficiency.</ArticleTitle><Pagination><MedlinePgn>1182-6</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1111/bjd.12794</ELocationID><Abstract><AbstractText>Generalized verrucosis is a characteristic of several genetic and immunodeficiency disorders including epidermodysplasia verruciformis; warts, hypogammaglobulinaemia, infections and myelokathexis (WHIM) syndrome; warts, immunodeficiency, lymphoedema and anogenital dysplasia (WILD) syndrome; severe combined immune deficiency and HIV, among others. In recent years, it has been consistently recognized in patients with GATA2 deficiency, a novel immunodeficiency syndrome characterized by monocytopenia, B-cell and natural killer-cell lymphopenia, and a tendency to develop myeloid leukaemias and disseminated mycobacterial, human papillomavirus (HPV) and opportunistic fungal infections. Mutations in GATA2 cause haploinsufficiency and track in families as an autosomal dominant immunodeficiency. GATA2 is a transcription factor involved in early haematopoietic differentiation and lymphatic and vascular development. We describe a case of generalized verrucosis with HPV type 57 presenting in a young man with GATA2 deficiency. GATA2 deficiency is a novel dominant immunodeficiency that is often recognized later in life and should be considered in the differential diagnosis of patients with generalized verrucosis.</AbstractText><CopyrightInformation>© 2013 British Association of Dermatologists.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>West</LastName><ForeName>E S</ForeName><Initials>ES</Initials><AffiliationInfo><Affiliation>Department of Dermatology, Columbia University Medical Center, 161 Fort Washington Avenue 12th Floor, New York, NY, 10032, U.S.A.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kingsbery</LastName><ForeName>M Y</ForeName><Initials>MY</Initials></Author><Author ValidYN="Y"><LastName>Mintz</LastName><ForeName>E M</ForeName><Initials>EM</Initials></Author><Author ValidYN="Y"><LastName>Hsu</LastName><ForeName>A P</ForeName><Initials>AP</Initials></Author><Author ValidYN="Y"><LastName>Holland</LastName><ForeName>S M</ForeName><Initials>SM</Initials></Author><Author ValidYN="Y"><LastName>Rady</LastName><ForeName>P L</ForeName><Initials>PL</Initials></Author><Author ValidYN="Y"><LastName>Tyring</LastName><ForeName>S K</ForeName><Initials>SK</Initials></Author><Author ValidYN="Y"><LastName>Grossman</LastName><ForeName>M E</ForeName><Initials>ME</Initials></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><Agency>Intramural NIH HHS</Agency><Country>United States</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D052060">Research Support, N.I.H., Intramural</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>England</Country><MedlineTA>Br J Dermatol</MedlineTA><NlmUniqueID>0004041</NlmUniqueID><ISSNLinking>0007-0963</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D050989">GATA2 Transcription Factor</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D050989" MajorTopicYN="N">GATA2 Transcription Factor</DescriptorName><QualifierName UI="Q000172" MajorTopicYN="Y">deficiency</QualifierName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007153" MajorTopicYN="N">Immunologic Deficiency Syndromes</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009154" MajorTopicYN="N">Mutation</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D010375" MajorTopicYN="N">Pedigree</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D012878" MajorTopicYN="N">Skin Neoplasms</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D014860" MajorTopicYN="N">Warts</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D055815" MajorTopicYN="N">Young Adult</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="accepted"><Year>2013</Year><Month>12</Month><Day>14</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2013</Year><Month>12</Month><Day>24</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2013</Year><Month>12</Month><Day>24</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2015</Year><Month>1</Month><Day>13</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">24359037</ArticleId><ArticleId IdType="doi">10.1111/bjd.12794</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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