X-linked Carriers of Chronic Granulomatous Disease: Illness, Lyonization and Stability
Abstract Background Chronic granulomatous disease (CGD) is characterized by recurrent life-threatening bacterial and fungal infections and aberrant inflammation. Mutations in CYBB cause X-linked CGD and account for 65%-70% of cases in western countries. Objective To understand the clinical manifesta...
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| creator | Marciano, Beatriz E., MD Zerbe, Christa S., MD Falcone, E. Liana, MD PhD Ding, Li, MD DeRavin, Suk See, MD PhD Daub, Janine, CRNP Kreuzburg, Samantha, CRNP Yockey, Lynne, CRNP Hunsberger, Sally, PHD Foruraghi, Ladan, CRNP Barnhart, Lisa A., CRNP Matharu, Kabir, MD Anderson, Victoria, CRNP Darnell, Dirk N., CRNP Frein, Cathleen, CRNP Fink, Danielle L., MS Lau, Karen P., MS Long Priel, Debra A., MS Gallin, John I., MD Malech, Harry L., MD Uzel, Gulbu, MD Freeman, Alexandra F., MD Kuhns, Douglas B., PhD Rosenzweig, Sergio D., MD PhD Holland, Steven M., MD |
| description | Abstract Background Chronic granulomatous disease (CGD) is characterized by recurrent life-threatening bacterial and fungal infections and aberrant inflammation. Mutations in CYBB cause X-linked CGD and account for 65%-70% of cases in western countries. Objective To understand the clinical manifestations associated with the X-linked CGD carrier state. Methods We undertook a comprehensive retrospective study of 162 affected females. We examined dihydrorhodamine oxidation (DHR) data for percent (%) X chromosome inactivation. We correlated lyonization (%DHR+) with clinical features. Where possible, we followed %DHR+ levels over time. Results Clinical data were available for 93 females: The %DHR+ was 46% (mean) and 47% (median)(SD=24). Using %DHR+ as the criterion for X inactivation, 78% of patients had levels of inactivation 20-80%, suggesting random inactivation that was independent of age. In contrast, carriers with CGD-type infections had median %DHR+ of 8% (n=14, range 0.06-48 %); those with only autoimmune or inflammatory manifestations (AIM) had median %DHR+ of 39% (n=31, range 7.4-74%). Those with both infections and autoimmunity had low %DHR+ (n=6, range=3-14%). A %DHR+ |
| doi_str_mv | 10.1016/j.jaci.2017.04.035 |
| format | Article |
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Liana, MD PhD ; Ding, Li, MD ; DeRavin, Suk See, MD PhD ; Daub, Janine, CRNP ; Kreuzburg, Samantha, CRNP ; Yockey, Lynne, CRNP ; Hunsberger, Sally, PHD ; Foruraghi, Ladan, CRNP ; Barnhart, Lisa A., CRNP ; Matharu, Kabir, MD ; Anderson, Victoria, CRNP ; Darnell, Dirk N., CRNP ; Frein, Cathleen, CRNP ; Fink, Danielle L., MS ; Lau, Karen P., MS ; Long Priel, Debra A., MS ; Gallin, John I., MD ; Malech, Harry L., MD ; Uzel, Gulbu, MD ; Freeman, Alexandra F., MD ; Kuhns, Douglas B., PhD ; Rosenzweig, Sergio D., MD PhD ; Holland, Steven M., MD</creator><creatorcontrib>Marciano, Beatriz E., MD ; Zerbe, Christa S., MD ; Falcone, E. Liana, MD PhD ; Ding, Li, MD ; DeRavin, Suk See, MD PhD ; Daub, Janine, CRNP ; Kreuzburg, Samantha, CRNP ; Yockey, Lynne, CRNP ; Hunsberger, Sally, PHD ; Foruraghi, Ladan, CRNP ; Barnhart, Lisa A., CRNP ; Matharu, Kabir, MD ; Anderson, Victoria, CRNP ; Darnell, Dirk N., CRNP ; Frein, Cathleen, CRNP ; Fink, Danielle L., MS ; Lau, Karen P., MS ; Long Priel, Debra A., MS ; Gallin, John I., MD ; Malech, Harry L., MD ; Uzel, Gulbu, MD ; Freeman, Alexandra F., MD ; Kuhns, Douglas B., PhD ; Rosenzweig, Sergio D., MD PhD ; Holland, Steven M., MD</creatorcontrib><description>Abstract Background Chronic granulomatous disease (CGD) is characterized by recurrent life-threatening bacterial and fungal infections and aberrant inflammation. Mutations in CYBB cause X-linked CGD and account for 65%-70% of cases in western countries. Objective To understand the clinical manifestations associated with the X-linked CGD carrier state. Methods We undertook a comprehensive retrospective study of 162 affected females. We examined dihydrorhodamine oxidation (DHR) data for percent (%) X chromosome inactivation. We correlated lyonization (%DHR+) with clinical features. Where possible, we followed %DHR+ levels over time. Results Clinical data were available for 93 females: The %DHR+ was 46% (mean) and 47% (median)(SD=24). Using %DHR+ as the criterion for X inactivation, 78% of patients had levels of inactivation 20-80%, suggesting random inactivation that was independent of age. In contrast, carriers with CGD-type infections had median %DHR+ of 8% (n=14, range 0.06-48 %); those with only autoimmune or inflammatory manifestations (AIM) had median %DHR+ of 39% (n=31, range 7.4-74%). Those with both infections and autoimmunity had low %DHR+ (n=6, range=3-14%). A %DHR+ <10 % was strongly associated with infections (OR:99). Strong association persisted when the %DHR+ was <20% (OR=12) Autoimmunity was not associated with %DHR+. In two sets of identical twins the %DHR+ populations tracked closely over time. While the %DHR+ populations were very similar between sisters, those between mothers and daughters were unrelated. Conclusions A low %DHR+ strongly predicts infection risk in X-linked CGD carriers, while the carrier state itself is associated with autoimmunity.</description><identifier>ISSN: 0091-6749</identifier><identifier>EISSN: 1097-6825</identifier><identifier>DOI: 10.1016/j.jaci.2017.04.035</identifier><identifier>PMID: 28528201</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>Adolescent ; Adult ; Age ; Aged ; Aged, 80 and over ; Allergy and Immunology ; Arthritis ; Autoimmunity ; Bacteria ; Biomarkers ; Child ; Child, Preschool ; Chromosomes ; Chronic granulomatous disease ; dihydrorhodamine flow cytometry test ; Disease ; Female ; Genes, X-Linked ; Genetic Association Studies ; Granulomatous Disease, Chronic - complications ; Granulomatous Disease, Chronic - diagnosis ; Granulomatous Disease, Chronic - genetics ; Granulomatous Disease, Chronic - immunology ; Health risks ; Heterozygote ; Humans ; Immunoglobulin G - immunology ; Immunoglobulin M - immunology ; Inactivation ; Infant ; Infection - etiology ; Infections ; Inflammation ; Lupus ; lyonization ; Middle Aged ; Mutation ; Neutrophils ; Odds Ratio ; Oxidation ; Patients ; Phenotype ; Software ; Superoxide ; Symptom Assessment ; X Chromosome Inactivation ; X chromosomes ; X inactivation ; Young Adult</subject><ispartof>Journal of allergy and clinical immunology, 2018-01, Vol.141 (1), p.365-371</ispartof><rights>2017</rights><rights>Published by Elsevier Inc.</rights><rights>Copyright Elsevier Science Ltd. Jan 1, 2018</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c549t-2db5b69901f2c473c70807264846c03f901b2c6ca3057ec4b55e336fe253b1123</citedby><cites>FETCH-LOGICAL-c549t-2db5b69901f2c473c70807264846c03f901b2c6ca3057ec4b55e336fe253b1123</cites><orcidid>0000-0002-9820-7661</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0091674917307637$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/28528201$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Marciano, Beatriz E., MD</creatorcontrib><creatorcontrib>Zerbe, Christa S., MD</creatorcontrib><creatorcontrib>Falcone, E. Liana, MD PhD</creatorcontrib><creatorcontrib>Ding, Li, MD</creatorcontrib><creatorcontrib>DeRavin, Suk See, MD PhD</creatorcontrib><creatorcontrib>Daub, Janine, CRNP</creatorcontrib><creatorcontrib>Kreuzburg, Samantha, CRNP</creatorcontrib><creatorcontrib>Yockey, Lynne, CRNP</creatorcontrib><creatorcontrib>Hunsberger, Sally, PHD</creatorcontrib><creatorcontrib>Foruraghi, Ladan, CRNP</creatorcontrib><creatorcontrib>Barnhart, Lisa A., CRNP</creatorcontrib><creatorcontrib>Matharu, Kabir, MD</creatorcontrib><creatorcontrib>Anderson, Victoria, CRNP</creatorcontrib><creatorcontrib>Darnell, Dirk N., CRNP</creatorcontrib><creatorcontrib>Frein, Cathleen, CRNP</creatorcontrib><creatorcontrib>Fink, Danielle L., MS</creatorcontrib><creatorcontrib>Lau, Karen P., MS</creatorcontrib><creatorcontrib>Long Priel, Debra A., MS</creatorcontrib><creatorcontrib>Gallin, John I., MD</creatorcontrib><creatorcontrib>Malech, Harry L., MD</creatorcontrib><creatorcontrib>Uzel, Gulbu, MD</creatorcontrib><creatorcontrib>Freeman, Alexandra F., MD</creatorcontrib><creatorcontrib>Kuhns, Douglas B., PhD</creatorcontrib><creatorcontrib>Rosenzweig, Sergio D., MD PhD</creatorcontrib><creatorcontrib>Holland, Steven M., MD</creatorcontrib><title>X-linked Carriers of Chronic Granulomatous Disease: Illness, Lyonization and Stability</title><title>Journal of allergy and clinical immunology</title><addtitle>J Allergy Clin Immunol</addtitle><description>Abstract Background Chronic granulomatous disease (CGD) is characterized by recurrent life-threatening bacterial and fungal infections and aberrant inflammation. Mutations in CYBB cause X-linked CGD and account for 65%-70% of cases in western countries. Objective To understand the clinical manifestations associated with the X-linked CGD carrier state. Methods We undertook a comprehensive retrospective study of 162 affected females. We examined dihydrorhodamine oxidation (DHR) data for percent (%) X chromosome inactivation. We correlated lyonization (%DHR+) with clinical features. Where possible, we followed %DHR+ levels over time. Results Clinical data were available for 93 females: The %DHR+ was 46% (mean) and 47% (median)(SD=24). Using %DHR+ as the criterion for X inactivation, 78% of patients had levels of inactivation 20-80%, suggesting random inactivation that was independent of age. In contrast, carriers with CGD-type infections had median %DHR+ of 8% (n=14, range 0.06-48 %); those with only autoimmune or inflammatory manifestations (AIM) had median %DHR+ of 39% (n=31, range 7.4-74%). Those with both infections and autoimmunity had low %DHR+ (n=6, range=3-14%). A %DHR+ <10 % was strongly associated with infections (OR:99). Strong association persisted when the %DHR+ was <20% (OR=12) Autoimmunity was not associated with %DHR+. In two sets of identical twins the %DHR+ populations tracked closely over time. While the %DHR+ populations were very similar between sisters, those between mothers and daughters were unrelated. Conclusions A low %DHR+ strongly predicts infection risk in X-linked CGD carriers, while the carrier state itself is associated with autoimmunity.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Age</subject><subject>Aged</subject><subject>Aged, 80 and over</subject><subject>Allergy and Immunology</subject><subject>Arthritis</subject><subject>Autoimmunity</subject><subject>Bacteria</subject><subject>Biomarkers</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Chromosomes</subject><subject>Chronic granulomatous disease</subject><subject>dihydrorhodamine flow cytometry test</subject><subject>Disease</subject><subject>Female</subject><subject>Genes, X-Linked</subject><subject>Genetic Association Studies</subject><subject>Granulomatous Disease, Chronic - complications</subject><subject>Granulomatous Disease, Chronic - diagnosis</subject><subject>Granulomatous Disease, Chronic - genetics</subject><subject>Granulomatous Disease, Chronic - immunology</subject><subject>Health risks</subject><subject>Heterozygote</subject><subject>Humans</subject><subject>Immunoglobulin G - immunology</subject><subject>Immunoglobulin M - immunology</subject><subject>Inactivation</subject><subject>Infant</subject><subject>Infection - etiology</subject><subject>Infections</subject><subject>Inflammation</subject><subject>Lupus</subject><subject>lyonization</subject><subject>Middle Aged</subject><subject>Mutation</subject><subject>Neutrophils</subject><subject>Odds Ratio</subject><subject>Oxidation</subject><subject>Patients</subject><subject>Phenotype</subject><subject>Software</subject><subject>Superoxide</subject><subject>Symptom Assessment</subject><subject>X Chromosome Inactivation</subject><subject>X chromosomes</subject><subject>X inactivation</subject><subject>Young Adult</subject><issn>0091-6749</issn><issn>1097-6825</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2018</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kU2L1TAUhoMoznX0D7iQghsX03qSNB8VEeSq48AFF6PiLqTpKabTm84k7cD115tyR4VZuAohz_ty8hxCnlOoKFD5eqgG63zFgKoK6gq4eEA2FBpVSs3EQ7IBaGgpVd2ckCcpDZDvXDePyQnTgumc25DvP8rRhyvsiq2N0WNMxdQX259xCt4V59GGZZz2dp6WVHzwCW3CN8XFOAZM6azYHTL2y85-CoUNXXE529aPfj48JY96OyZ8dneekm-fPn7dfi53X84vtu93pRN1M5esa0UrmwZoz1ytuFOgQTFZ61o64H1-aJmTznIQCl3dCoGcyx6Z4C2ljJ-SV8fe6zjdLJhms_fJ4TjagHlkQ3MDz0bEir68hw7TEkOeLlNaSKmlhkyxI-XilFLE3lxHv7fxYCiY1boZzGrdrNYN1CZbz6EXd9VLu8fub-SP5gy8PQKYXdxmyyY5j8Fh5yO62XST_3__u3txl5fmnR2v8IDp3z9MYgbM5br3de1UcVCSK_4bMiel8g</recordid><startdate>20180101</startdate><enddate>20180101</enddate><creator>Marciano, Beatriz E., MD</creator><creator>Zerbe, Christa S., MD</creator><creator>Falcone, E. Liana, MD PhD</creator><creator>Ding, Li, MD</creator><creator>DeRavin, Suk See, MD PhD</creator><creator>Daub, Janine, CRNP</creator><creator>Kreuzburg, Samantha, CRNP</creator><creator>Yockey, Lynne, CRNP</creator><creator>Hunsberger, Sally, PHD</creator><creator>Foruraghi, Ladan, CRNP</creator><creator>Barnhart, Lisa A., CRNP</creator><creator>Matharu, Kabir, MD</creator><creator>Anderson, Victoria, CRNP</creator><creator>Darnell, Dirk N., CRNP</creator><creator>Frein, Cathleen, CRNP</creator><creator>Fink, Danielle L., MS</creator><creator>Lau, Karen P., MS</creator><creator>Long Priel, Debra A., MS</creator><creator>Gallin, John I., MD</creator><creator>Malech, Harry L., MD</creator><creator>Uzel, Gulbu, MD</creator><creator>Freeman, Alexandra F., MD</creator><creator>Kuhns, Douglas B., PhD</creator><creator>Rosenzweig, Sergio D., MD PhD</creator><creator>Holland, Steven M., MD</creator><general>Elsevier Inc</general><general>Elsevier Limited</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7SS</scope><scope>7T5</scope><scope>H94</scope><scope>K9.</scope><scope>NAPCQ</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0002-9820-7661</orcidid></search><sort><creationdate>20180101</creationdate><title>X-linked Carriers of Chronic Granulomatous Disease: Illness, Lyonization and Stability</title><author>Marciano, Beatriz E., MD ; Zerbe, Christa S., MD ; Falcone, E. Liana, MD PhD ; Ding, Li, MD ; DeRavin, Suk See, MD PhD ; Daub, Janine, CRNP ; Kreuzburg, Samantha, CRNP ; Yockey, Lynne, CRNP ; Hunsberger, Sally, PHD ; Foruraghi, Ladan, CRNP ; Barnhart, Lisa A., CRNP ; Matharu, Kabir, MD ; Anderson, Victoria, CRNP ; Darnell, Dirk N., CRNP ; Frein, Cathleen, CRNP ; Fink, Danielle L., MS ; Lau, Karen P., MS ; Long Priel, Debra A., MS ; Gallin, John I., MD ; Malech, Harry L., MD ; Uzel, Gulbu, MD ; Freeman, Alexandra F., MD ; Kuhns, Douglas B., PhD ; Rosenzweig, Sergio D., MD PhD ; Holland, Steven M., MD</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c549t-2db5b69901f2c473c70807264846c03f901b2c6ca3057ec4b55e336fe253b1123</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2018</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Age</topic><topic>Aged</topic><topic>Aged, 80 and over</topic><topic>Allergy and Immunology</topic><topic>Arthritis</topic><topic>Autoimmunity</topic><topic>Bacteria</topic><topic>Biomarkers</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Chromosomes</topic><topic>Chronic granulomatous disease</topic><topic>dihydrorhodamine flow cytometry test</topic><topic>Disease</topic><topic>Female</topic><topic>Genes, X-Linked</topic><topic>Genetic Association Studies</topic><topic>Granulomatous Disease, Chronic - complications</topic><topic>Granulomatous Disease, Chronic - diagnosis</topic><topic>Granulomatous Disease, Chronic - genetics</topic><topic>Granulomatous Disease, Chronic - immunology</topic><topic>Health risks</topic><topic>Heterozygote</topic><topic>Humans</topic><topic>Immunoglobulin G - immunology</topic><topic>Immunoglobulin M - immunology</topic><topic>Inactivation</topic><topic>Infant</topic><topic>Infection - etiology</topic><topic>Infections</topic><topic>Inflammation</topic><topic>Lupus</topic><topic>lyonization</topic><topic>Middle Aged</topic><topic>Mutation</topic><topic>Neutrophils</topic><topic>Odds Ratio</topic><topic>Oxidation</topic><topic>Patients</topic><topic>Phenotype</topic><topic>Software</topic><topic>Superoxide</topic><topic>Symptom Assessment</topic><topic>X Chromosome Inactivation</topic><topic>X chromosomes</topic><topic>X inactivation</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Marciano, Beatriz E., MD</creatorcontrib><creatorcontrib>Zerbe, Christa S., MD</creatorcontrib><creatorcontrib>Falcone, E. 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Liana, MD PhD</au><au>Ding, Li, MD</au><au>DeRavin, Suk See, MD PhD</au><au>Daub, Janine, CRNP</au><au>Kreuzburg, Samantha, CRNP</au><au>Yockey, Lynne, CRNP</au><au>Hunsberger, Sally, PHD</au><au>Foruraghi, Ladan, CRNP</au><au>Barnhart, Lisa A., CRNP</au><au>Matharu, Kabir, MD</au><au>Anderson, Victoria, CRNP</au><au>Darnell, Dirk N., CRNP</au><au>Frein, Cathleen, CRNP</au><au>Fink, Danielle L., MS</au><au>Lau, Karen P., MS</au><au>Long Priel, Debra A., MS</au><au>Gallin, John I., MD</au><au>Malech, Harry L., MD</au><au>Uzel, Gulbu, MD</au><au>Freeman, Alexandra F., MD</au><au>Kuhns, Douglas B., PhD</au><au>Rosenzweig, Sergio D., MD PhD</au><au>Holland, Steven M., MD</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>X-linked Carriers of Chronic Granulomatous Disease: Illness, Lyonization and Stability</atitle><jtitle>Journal of allergy and clinical immunology</jtitle><addtitle>J Allergy Clin Immunol</addtitle><date>2018-01-01</date><risdate>2018</risdate><volume>141</volume><issue>1</issue><spage>365</spage><epage>371</epage><pages>365-371</pages><issn>0091-6749</issn><eissn>1097-6825</eissn><abstract>Abstract Background Chronic granulomatous disease (CGD) is characterized by recurrent life-threatening bacterial and fungal infections and aberrant inflammation. Mutations in CYBB cause X-linked CGD and account for 65%-70% of cases in western countries. Objective To understand the clinical manifestations associated with the X-linked CGD carrier state. Methods We undertook a comprehensive retrospective study of 162 affected females. We examined dihydrorhodamine oxidation (DHR) data for percent (%) X chromosome inactivation. We correlated lyonization (%DHR+) with clinical features. Where possible, we followed %DHR+ levels over time. Results Clinical data were available for 93 females: The %DHR+ was 46% (mean) and 47% (median)(SD=24). Using %DHR+ as the criterion for X inactivation, 78% of patients had levels of inactivation 20-80%, suggesting random inactivation that was independent of age. In contrast, carriers with CGD-type infections had median %DHR+ of 8% (n=14, range 0.06-48 %); those with only autoimmune or inflammatory manifestations (AIM) had median %DHR+ of 39% (n=31, range 7.4-74%). Those with both infections and autoimmunity had low %DHR+ (n=6, range=3-14%). A %DHR+ <10 % was strongly associated with infections (OR:99). Strong association persisted when the %DHR+ was <20% (OR=12) Autoimmunity was not associated with %DHR+. In two sets of identical twins the %DHR+ populations tracked closely over time. While the %DHR+ populations were very similar between sisters, those between mothers and daughters were unrelated. Conclusions A low %DHR+ strongly predicts infection risk in X-linked CGD carriers, while the carrier state itself is associated with autoimmunity.</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>28528201</pmid><doi>10.1016/j.jaci.2017.04.035</doi><tpages>7</tpages><orcidid>https://orcid.org/0000-0002-9820-7661</orcidid><oa>free_for_read</oa></addata></record> |
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| ispartof | Journal of allergy and clinical immunology, 2018-01, Vol.141 (1), p.365-371 |
| issn | 0091-6749 1097-6825 |
| language | eng |
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| source | MEDLINE; Elsevier ScienceDirect Journals |
| subjects | Adolescent Adult Age Aged Aged, 80 and over Allergy and Immunology Arthritis Autoimmunity Bacteria Biomarkers Child Child, Preschool Chromosomes Chronic granulomatous disease dihydrorhodamine flow cytometry test Disease Female Genes, X-Linked Genetic Association Studies Granulomatous Disease, Chronic - complications Granulomatous Disease, Chronic - diagnosis Granulomatous Disease, Chronic - genetics Granulomatous Disease, Chronic - immunology Health risks Heterozygote Humans Immunoglobulin G - immunology Immunoglobulin M - immunology Inactivation Infant Infection - etiology Infections Inflammation Lupus lyonization Middle Aged Mutation Neutrophils Odds Ratio Oxidation Patients Phenotype Software Superoxide Symptom Assessment X Chromosome Inactivation X chromosomes X inactivation Young Adult |
| title | X-linked Carriers of Chronic Granulomatous Disease: Illness, Lyonization and Stability |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-02-06T21%3A46%3A25IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=X-linked%20Carriers%20of%20Chronic%20Granulomatous%20Disease:%20Illness,%20Lyonization%20and%20Stability&rft.jtitle=Journal%20of%20allergy%20and%20clinical%20immunology&rft.au=Marciano,%20Beatriz%20E.,%20MD&rft.date=2018-01-01&rft.volume=141&rft.issue=1&rft.spage=365&rft.epage=371&rft.pages=365-371&rft.issn=0091-6749&rft.eissn=1097-6825&rft_id=info:doi/10.1016/j.jaci.2017.04.035&rft_dat=%3Cproquest_cross%3E1901309752%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=1985668680&rft_id=info:pmid/28528201&rft_els_id=1_s2_0_S0091674917307637&rfr_iscdi=true |