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Severe phenotype of severe combined immunodeficiency caused by adenosine deaminase deficiency in a patient with a homozygous mutation due to uniparental disomy
Because of the erythroderma and infectious problems combined with lymphocytopenia in peripheral blood, a primary immunodeficiency was suspected. The recurrence risk of UPD without chromosomal disturbances in parents is low (
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| Published in: | Journal of allergy and clinical immunology 2013-07, Vol.132 (1), p.222-223 |
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| Main Authors: | , , , , , , |
| Format: | Article |
| Language: | English |
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| cited_by | cdi_FETCH-LOGICAL-c480t-17f87e3c5dfdac25f0e0d27fd068fcd433cede46941d211ba3570bb296c12cb93 |
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| cites | cdi_FETCH-LOGICAL-c480t-17f87e3c5dfdac25f0e0d27fd068fcd433cede46941d211ba3570bb296c12cb93 |
| container_end_page | 223 |
| container_issue | 1 |
| container_start_page | 222 |
| container_title | Journal of allergy and clinical immunology |
| container_volume | 132 |
| creator | Geelen, Joyce, PhD Pfundt, Rolph, PhD Meijer, Judith, BASc Verheijen, Frans W., PhD van Kuilenburg, Andre B.P., PhD Warris, Adilia, PhD Marcelis, Carlo, MD |
| description | Because of the erythroderma and infectious problems combined with lymphocytopenia in peripheral blood, a primary immunodeficiency was suspected. The recurrence risk of UPD without chromosomal disturbances in parents is low ( |
| doi_str_mv | 10.1016/j.jaci.2012.11.006 |
| format | article |
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The recurrence risk of UPD without chromosomal disturbances in parents is low (<1%). Because the recurrence risk would be 25% when both parents are a carrier of the mutation, this indicates how important understanding the mechanism of inheritance is for correct counseling of the parents.</description><identifier>ISSN: 0091-6749</identifier><identifier>EISSN: 1097-6825</identifier><identifier>DOI: 10.1016/j.jaci.2012.11.006</identifier><identifier>PMID: 23260757</identifier><identifier>CODEN: JACIBY</identifier><language>eng</language><publisher>New York, NY: Elsevier Inc</publisher><subject>Adenosine Deaminase - deficiency ; Adenosine Deaminase - genetics ; Agammaglobulinemia - genetics ; Allergy and Immunology ; Biological and medical sciences ; Chromosomes ; Chromosomes, Human, Pair 20 ; Female ; Fundamental and applied biological sciences. Psychology ; Fundamental immunology ; Genes ; Homozygote ; Humans ; Infant, Newborn ; Medical sciences ; Mutation ; Phenotype ; Respiratory distress syndrome ; Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis ; Severe Combined Immunodeficiency - genetics ; Uniparental Disomy</subject><ispartof>Journal of allergy and clinical immunology, 2013-07, Vol.132 (1), p.222-223</ispartof><rights>American Academy of Allergy, Asthma & Immunology</rights><rights>2013 American Academy of Allergy, Asthma & Immunology</rights><rights>2014 INIST-CNRS</rights><rights>Copyright Elsevier Limited Jul 2013</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c480t-17f87e3c5dfdac25f0e0d27fd068fcd433cede46941d211ba3570bb296c12cb93</citedby><cites>FETCH-LOGICAL-c480t-17f87e3c5dfdac25f0e0d27fd068fcd433cede46941d211ba3570bb296c12cb93</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=27517635$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/23260757$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Geelen, Joyce, PhD</creatorcontrib><creatorcontrib>Pfundt, Rolph, PhD</creatorcontrib><creatorcontrib>Meijer, Judith, BASc</creatorcontrib><creatorcontrib>Verheijen, Frans W., PhD</creatorcontrib><creatorcontrib>van Kuilenburg, Andre B.P., PhD</creatorcontrib><creatorcontrib>Warris, Adilia, PhD</creatorcontrib><creatorcontrib>Marcelis, Carlo, MD</creatorcontrib><title>Severe phenotype of severe combined immunodeficiency caused by adenosine deaminase deficiency in a patient with a homozygous mutation due to uniparental disomy</title><title>Journal of allergy and clinical immunology</title><addtitle>J Allergy Clin Immunol</addtitle><description>Because of the erythroderma and infectious problems combined with lymphocytopenia in peripheral blood, a primary immunodeficiency was suspected. The recurrence risk of UPD without chromosomal disturbances in parents is low (<1%). Because the recurrence risk would be 25% when both parents are a carrier of the mutation, this indicates how important understanding the mechanism of inheritance is for correct counseling of the parents.</description><subject>Adenosine Deaminase - deficiency</subject><subject>Adenosine Deaminase - genetics</subject><subject>Agammaglobulinemia - genetics</subject><subject>Allergy and Immunology</subject><subject>Biological and medical sciences</subject><subject>Chromosomes</subject><subject>Chromosomes, Human, Pair 20</subject><subject>Female</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Fundamental immunology</subject><subject>Genes</subject><subject>Homozygote</subject><subject>Humans</subject><subject>Infant, Newborn</subject><subject>Medical sciences</subject><subject>Mutation</subject><subject>Phenotype</subject><subject>Respiratory distress syndrome</subject><subject>Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. 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Psychology</topic><topic>Fundamental immunology</topic><topic>Genes</topic><topic>Homozygote</topic><topic>Humans</topic><topic>Infant, Newborn</topic><topic>Medical sciences</topic><topic>Mutation</topic><topic>Phenotype</topic><topic>Respiratory distress syndrome</topic><topic>Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. 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| ispartof | Journal of allergy and clinical immunology, 2013-07, Vol.132 (1), p.222-223 |
| issn | 0091-6749 1097-6825 |
| language | eng |
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| source | ScienceDirect Freedom Collection 2022-2024 |
| subjects | Adenosine Deaminase - deficiency Adenosine Deaminase - genetics Agammaglobulinemia - genetics Allergy and Immunology Biological and medical sciences Chromosomes Chromosomes, Human, Pair 20 Female Fundamental and applied biological sciences. Psychology Fundamental immunology Genes Homozygote Humans Infant, Newborn Medical sciences Mutation Phenotype Respiratory distress syndrome Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis Severe Combined Immunodeficiency - genetics Uniparental Disomy |
| title | Severe phenotype of severe combined immunodeficiency caused by adenosine deaminase deficiency in a patient with a homozygous mutation due to uniparental disomy |
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