Abnormal Immune Profile in Individuals with Kabuki Syndrome
Objective To analyze the lymphocyte subsets in individuals with Kabuki syndrome for better characterizing the immunological phenotype of this rare congenital disorder. Methods We characterized the immunological profile including B-, T- and natural killer-cell subsets in a series ( N = 18) of indivi...
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| Veröffentlicht in: | Journal of clinical immunology 2025-12, Vol.45 (1), p.7, Article 7 |
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| creator | Comel, Margot Saad, Norma Sil, Debapratim Apparailly, Florence Willems, Marjolaine Djouad, Farida Andrau, Jean-Christophe Lozano, Claire Genevieve, David |
| description | Objective
To analyze the lymphocyte subsets in individuals with Kabuki syndrome for better characterizing the immunological phenotype of this rare congenital disorder.
Methods
We characterized the immunological profile including B-, T- and natural killer-cell subsets in a series (
N
= 18) of individuals with Kabuki syndrome.
Results
All 18 individuals underwent genetic analysis: 15 had a variant in
KMT2D
and 3 a variant in
KDM6A
. Eleven of the 18 individuals (61%) had recurrent infections and 9 (50%) respiratory infections. Three (17%) had autoimmune diseases. On immunological analysis, 6 (33%) had CD4 T-cell lymphopenia, which was preferentially associated with the
KMT2D
truncating variant (5/9 individuals). Eight of 18 individuals (44%) had a humoral deficiency and eight (44%) had B lymphopenia. We found abnormal distributions of T-cell subsets, especially a frequent decrease in recent thymic emigrant CD4 + naive T-cell count in 13/16 individuals (81%).
Conclusion
The immunological features of Kabuki syndrome showed variable immune disorders with CD4 + T-cell deficiency in one third of cases, which had not been previously reported. In particular, we found a reduction in recent thymic emigrant naïve CD4 + T-cell count in 13 of 16 individuals, representing a novel finding that had not previously been reported. |
| doi_str_mv | 10.1007/s10875-024-01796-5 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_3103451390</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>3103679940</sourcerecordid><originalsourceid>FETCH-LOGICAL-c256t-8e27769f7e798681956b5bb3c761cc5e000d8d065e8c95737f12502b71ab8d2b3</originalsourceid><addsrcrecordid>eNp9kMtOwzAQRS0EoqXwAyxQJDZsDH7EL7GqKh4VlUAC1lacOJCSOMVuQP173KaAxILVLObMnasDwDFG5xghcREwkoJBRFKIsFAcsh0wxExQSJgiu2CIiMBQ4ZQMwEEIc4QQ5YTtgwFVhKdUiiG4HBvX-iark2nTdM4mD74tq9omlUumrqg-qqLL6pB8VsvX5C4z3VuVPK5c4dvGHoK9Mu7s0XaOwPP11dPkFs7ub6aT8QzmhPEllJYIwVUprFCSS6wYN8wYmguO85zZWKuQBeLMylzF9qLEhCFiBM6MLIihI3DW5y58-97ZsNRNFXJb15mzbRc0xYimDFOFInr6B523nXex3YbiQql0TZGeyn0bgrelXviqyfxKY6TXanWvVke1eqNWs3h0so3uTGOLn5NvlxGgPRDiyr1Y__v7n9gvz-6Bjw</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>3103679940</pqid></control><display><type>article</type><title>Abnormal Immune Profile in Individuals with Kabuki Syndrome</title><source>MEDLINE</source><source>SpringerLink Journals - AutoHoldings</source><creator>Comel, Margot ; Saad, Norma ; Sil, Debapratim ; Apparailly, Florence ; Willems, Marjolaine ; Djouad, Farida ; Andrau, Jean-Christophe ; Lozano, Claire ; Genevieve, David</creator><creatorcontrib>Comel, Margot ; Saad, Norma ; Sil, Debapratim ; Apparailly, Florence ; Willems, Marjolaine ; Djouad, Farida ; Andrau, Jean-Christophe ; Lozano, Claire ; Genevieve, David</creatorcontrib><description>Objective
To analyze the lymphocyte subsets in individuals with Kabuki syndrome for better characterizing the immunological phenotype of this rare congenital disorder.
Methods
We characterized the immunological profile including B-, T- and natural killer-cell subsets in a series (
N
= 18) of individuals with Kabuki syndrome.
Results
All 18 individuals underwent genetic analysis: 15 had a variant in
KMT2D
and 3 a variant in
KDM6A
. Eleven of the 18 individuals (61%) had recurrent infections and 9 (50%) respiratory infections. Three (17%) had autoimmune diseases. On immunological analysis, 6 (33%) had CD4 T-cell lymphopenia, which was preferentially associated with the
KMT2D
truncating variant (5/9 individuals). Eight of 18 individuals (44%) had a humoral deficiency and eight (44%) had B lymphopenia. We found abnormal distributions of T-cell subsets, especially a frequent decrease in recent thymic emigrant CD4 + naive T-cell count in 13/16 individuals (81%).
Conclusion
The immunological features of Kabuki syndrome showed variable immune disorders with CD4 + T-cell deficiency in one third of cases, which had not been previously reported. In particular, we found a reduction in recent thymic emigrant naïve CD4 + T-cell count in 13 of 16 individuals, representing a novel finding that had not previously been reported.</description><identifier>ISSN: 0271-9142</identifier><identifier>ISSN: 1573-2592</identifier><identifier>EISSN: 1573-2592</identifier><identifier>DOI: 10.1007/s10875-024-01796-5</identifier><identifier>PMID: 39264387</identifier><language>eng</language><publisher>New York: Springer US</publisher><subject>Abnormalities, Multiple - genetics ; Abnormalities, Multiple - immunology ; Adolescent ; Adult ; Autoimmune diseases ; Biomedical and Life Sciences ; Biomedicine ; CD4 antigen ; Child ; Child, Preschool ; Congenital defects ; DNA-Binding Proteins - genetics ; Face - abnormalities ; Female ; Genetic analysis ; Hematologic Diseases - genetics ; Hematologic Diseases - immunology ; Histone Demethylases - genetics ; Humans ; Immunology ; Immunophenotyping ; Infant ; Infectious Diseases ; Internal Medicine ; Lymphocyte Subsets - immunology ; Lymphocyte Subsets - metabolism ; Lymphocytes ; Lymphocytes T ; Lymphopenia ; Lymphopenia - genetics ; Lymphopenia - immunology ; Male ; Medical Microbiology ; Mutation ; Natural killer cells ; Neoplasm Proteins - genetics ; Neoplasm Proteins - immunology ; Phenotype ; Phenotypes ; Respiratory tract infection ; Thymus ; Vestibular Diseases - genetics ; Vestibular Diseases - immunology ; Young Adult</subject><ispartof>Journal of clinical immunology, 2025-12, Vol.45 (1), p.7, Article 7</ispartof><rights>The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature 2024. Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.</rights><rights>2024. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c256t-8e27769f7e798681956b5bb3c761cc5e000d8d065e8c95737f12502b71ab8d2b3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s10875-024-01796-5$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s10875-024-01796-5$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,780,784,27924,27925,41488,42557,51319</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/39264387$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Comel, Margot</creatorcontrib><creatorcontrib>Saad, Norma</creatorcontrib><creatorcontrib>Sil, Debapratim</creatorcontrib><creatorcontrib>Apparailly, Florence</creatorcontrib><creatorcontrib>Willems, Marjolaine</creatorcontrib><creatorcontrib>Djouad, Farida</creatorcontrib><creatorcontrib>Andrau, Jean-Christophe</creatorcontrib><creatorcontrib>Lozano, Claire</creatorcontrib><creatorcontrib>Genevieve, David</creatorcontrib><title>Abnormal Immune Profile in Individuals with Kabuki Syndrome</title><title>Journal of clinical immunology</title><addtitle>J Clin Immunol</addtitle><addtitle>J Clin Immunol</addtitle><description>Objective
To analyze the lymphocyte subsets in individuals with Kabuki syndrome for better characterizing the immunological phenotype of this rare congenital disorder.
Methods
We characterized the immunological profile including B-, T- and natural killer-cell subsets in a series (
N
= 18) of individuals with Kabuki syndrome.
Results
All 18 individuals underwent genetic analysis: 15 had a variant in
KMT2D
and 3 a variant in
KDM6A
. Eleven of the 18 individuals (61%) had recurrent infections and 9 (50%) respiratory infections. Three (17%) had autoimmune diseases. On immunological analysis, 6 (33%) had CD4 T-cell lymphopenia, which was preferentially associated with the
KMT2D
truncating variant (5/9 individuals). Eight of 18 individuals (44%) had a humoral deficiency and eight (44%) had B lymphopenia. We found abnormal distributions of T-cell subsets, especially a frequent decrease in recent thymic emigrant CD4 + naive T-cell count in 13/16 individuals (81%).
Conclusion
The immunological features of Kabuki syndrome showed variable immune disorders with CD4 + T-cell deficiency in one third of cases, which had not been previously reported. In particular, we found a reduction in recent thymic emigrant naïve CD4 + T-cell count in 13 of 16 individuals, representing a novel finding that had not previously been reported.</description><subject>Abnormalities, Multiple - genetics</subject><subject>Abnormalities, Multiple - immunology</subject><subject>Adolescent</subject><subject>Adult</subject><subject>Autoimmune diseases</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>CD4 antigen</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Congenital defects</subject><subject>DNA-Binding Proteins - genetics</subject><subject>Face - abnormalities</subject><subject>Female</subject><subject>Genetic analysis</subject><subject>Hematologic Diseases - genetics</subject><subject>Hematologic Diseases - immunology</subject><subject>Histone Demethylases - genetics</subject><subject>Humans</subject><subject>Immunology</subject><subject>Immunophenotyping</subject><subject>Infant</subject><subject>Infectious Diseases</subject><subject>Internal Medicine</subject><subject>Lymphocyte Subsets - immunology</subject><subject>Lymphocyte Subsets - metabolism</subject><subject>Lymphocytes</subject><subject>Lymphocytes T</subject><subject>Lymphopenia</subject><subject>Lymphopenia - genetics</subject><subject>Lymphopenia - immunology</subject><subject>Male</subject><subject>Medical Microbiology</subject><subject>Mutation</subject><subject>Natural killer cells</subject><subject>Neoplasm Proteins - genetics</subject><subject>Neoplasm Proteins - immunology</subject><subject>Phenotype</subject><subject>Phenotypes</subject><subject>Respiratory tract infection</subject><subject>Thymus</subject><subject>Vestibular Diseases - genetics</subject><subject>Vestibular Diseases - immunology</subject><subject>Young Adult</subject><issn>0271-9142</issn><issn>1573-2592</issn><issn>1573-2592</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2025</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNp9kMtOwzAQRS0EoqXwAyxQJDZsDH7EL7GqKh4VlUAC1lacOJCSOMVuQP173KaAxILVLObMnasDwDFG5xghcREwkoJBRFKIsFAcsh0wxExQSJgiu2CIiMBQ4ZQMwEEIc4QQ5YTtgwFVhKdUiiG4HBvX-iark2nTdM4mD74tq9omlUumrqg-qqLL6pB8VsvX5C4z3VuVPK5c4dvGHoK9Mu7s0XaOwPP11dPkFs7ub6aT8QzmhPEllJYIwVUprFCSS6wYN8wYmguO85zZWKuQBeLMylzF9qLEhCFiBM6MLIihI3DW5y58-97ZsNRNFXJb15mzbRc0xYimDFOFInr6B523nXex3YbiQql0TZGeyn0bgrelXviqyfxKY6TXanWvVke1eqNWs3h0so3uTGOLn5NvlxGgPRDiyr1Y__v7n9gvz-6Bjw</recordid><startdate>20251201</startdate><enddate>20251201</enddate><creator>Comel, Margot</creator><creator>Saad, Norma</creator><creator>Sil, Debapratim</creator><creator>Apparailly, Florence</creator><creator>Willems, Marjolaine</creator><creator>Djouad, Farida</creator><creator>Andrau, Jean-Christophe</creator><creator>Lozano, Claire</creator><creator>Genevieve, David</creator><general>Springer US</general><general>Springer Nature B.V</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>3V.</scope><scope>7T5</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8C1</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>H94</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope></search><sort><creationdate>20251201</creationdate><title>Abnormal Immune Profile in Individuals with Kabuki Syndrome</title><author>Comel, Margot ; Saad, Norma ; Sil, Debapratim ; Apparailly, Florence ; Willems, Marjolaine ; Djouad, Farida ; Andrau, Jean-Christophe ; Lozano, Claire ; Genevieve, David</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c256t-8e27769f7e798681956b5bb3c761cc5e000d8d065e8c95737f12502b71ab8d2b3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2025</creationdate><topic>Abnormalities, Multiple - genetics</topic><topic>Abnormalities, Multiple - immunology</topic><topic>Adolescent</topic><topic>Adult</topic><topic>Autoimmune diseases</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>CD4 antigen</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Congenital defects</topic><topic>DNA-Binding Proteins - genetics</topic><topic>Face - abnormalities</topic><topic>Female</topic><topic>Genetic analysis</topic><topic>Hematologic Diseases - genetics</topic><topic>Hematologic Diseases - immunology</topic><topic>Histone Demethylases - genetics</topic><topic>Humans</topic><topic>Immunology</topic><topic>Immunophenotyping</topic><topic>Infant</topic><topic>Infectious Diseases</topic><topic>Internal Medicine</topic><topic>Lymphocyte Subsets - immunology</topic><topic>Lymphocyte Subsets - metabolism</topic><topic>Lymphocytes</topic><topic>Lymphocytes T</topic><topic>Lymphopenia</topic><topic>Lymphopenia - genetics</topic><topic>Lymphopenia - immunology</topic><topic>Male</topic><topic>Medical Microbiology</topic><topic>Mutation</topic><topic>Natural killer cells</topic><topic>Neoplasm Proteins - genetics</topic><topic>Neoplasm Proteins - immunology</topic><topic>Phenotype</topic><topic>Phenotypes</topic><topic>Respiratory tract infection</topic><topic>Thymus</topic><topic>Vestibular Diseases - genetics</topic><topic>Vestibular Diseases - immunology</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Comel, Margot</creatorcontrib><creatorcontrib>Saad, Norma</creatorcontrib><creatorcontrib>Sil, Debapratim</creatorcontrib><creatorcontrib>Apparailly, Florence</creatorcontrib><creatorcontrib>Willems, Marjolaine</creatorcontrib><creatorcontrib>Djouad, Farida</creatorcontrib><creatorcontrib>Andrau, Jean-Christophe</creatorcontrib><creatorcontrib>Lozano, Claire</creatorcontrib><creatorcontrib>Genevieve, David</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Immunology Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Public Health Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Biological Science Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of clinical immunology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Comel, Margot</au><au>Saad, Norma</au><au>Sil, Debapratim</au><au>Apparailly, Florence</au><au>Willems, Marjolaine</au><au>Djouad, Farida</au><au>Andrau, Jean-Christophe</au><au>Lozano, Claire</au><au>Genevieve, David</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Abnormal Immune Profile in Individuals with Kabuki Syndrome</atitle><jtitle>Journal of clinical immunology</jtitle><stitle>J Clin Immunol</stitle><addtitle>J Clin Immunol</addtitle><date>2025-12-01</date><risdate>2025</risdate><volume>45</volume><issue>1</issue><spage>7</spage><pages>7-</pages><artnum>7</artnum><issn>0271-9142</issn><issn>1573-2592</issn><eissn>1573-2592</eissn><abstract>Objective
To analyze the lymphocyte subsets in individuals with Kabuki syndrome for better characterizing the immunological phenotype of this rare congenital disorder.
Methods
We characterized the immunological profile including B-, T- and natural killer-cell subsets in a series (
N
= 18) of individuals with Kabuki syndrome.
Results
All 18 individuals underwent genetic analysis: 15 had a variant in
KMT2D
and 3 a variant in
KDM6A
. Eleven of the 18 individuals (61%) had recurrent infections and 9 (50%) respiratory infections. Three (17%) had autoimmune diseases. On immunological analysis, 6 (33%) had CD4 T-cell lymphopenia, which was preferentially associated with the
KMT2D
truncating variant (5/9 individuals). Eight of 18 individuals (44%) had a humoral deficiency and eight (44%) had B lymphopenia. We found abnormal distributions of T-cell subsets, especially a frequent decrease in recent thymic emigrant CD4 + naive T-cell count in 13/16 individuals (81%).
Conclusion
The immunological features of Kabuki syndrome showed variable immune disorders with CD4 + T-cell deficiency in one third of cases, which had not been previously reported. In particular, we found a reduction in recent thymic emigrant naïve CD4 + T-cell count in 13 of 16 individuals, representing a novel finding that had not previously been reported.</abstract><cop>New York</cop><pub>Springer US</pub><pmid>39264387</pmid><doi>10.1007/s10875-024-01796-5</doi></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0271-9142 |
| ispartof | Journal of clinical immunology, 2025-12, Vol.45 (1), p.7, Article 7 |
| issn | 0271-9142 1573-2592 1573-2592 |
| language | eng |
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| source | MEDLINE; SpringerLink Journals - AutoHoldings |
| subjects | Abnormalities, Multiple - genetics Abnormalities, Multiple - immunology Adolescent Adult Autoimmune diseases Biomedical and Life Sciences Biomedicine CD4 antigen Child Child, Preschool Congenital defects DNA-Binding Proteins - genetics Face - abnormalities Female Genetic analysis Hematologic Diseases - genetics Hematologic Diseases - immunology Histone Demethylases - genetics Humans Immunology Immunophenotyping Infant Infectious Diseases Internal Medicine Lymphocyte Subsets - immunology Lymphocyte Subsets - metabolism Lymphocytes Lymphocytes T Lymphopenia Lymphopenia - genetics Lymphopenia - immunology Male Medical Microbiology Mutation Natural killer cells Neoplasm Proteins - genetics Neoplasm Proteins - immunology Phenotype Phenotypes Respiratory tract infection Thymus Vestibular Diseases - genetics Vestibular Diseases - immunology Young Adult |
| title | Abnormal Immune Profile in Individuals with Kabuki Syndrome |
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