Clinical Features and Genetic Analysis of Taiwanese Primary Immunodeficiency Patients with Prolonged Diarrhea and Monogenetic Inflammatory Bowel Disease
Purpose Diarrhea lasting longer than 14 days which fails to respond to conventional management is defined as severe and protracted diarrhea and might overlap with inflammatory bowel disease (IBD). Methods The prevalence, associated pathogens, and prognosis of severe and protracted diarrhea without I...
Gespeichert in:
| Veröffentlicht in: | Journal of clinical immunology 2023-08, Vol.43 (6), p.1455-1467 |
|---|---|
| Hauptverfasser: | , , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 1467 |
|---|---|
| container_issue | 6 |
| container_start_page | 1455 |
| container_title | Journal of clinical immunology |
| container_volume | 43 |
| creator | Lee, Wen-I. Chen, Chien-Chang Chen, Shih-Hsiang Lai, Wan-Tz Jaing, Tang-Her Ou, Liang-Shiou Liang, Chi-Jou Kang, Chen-Chen Huang, Jing-Long |
| description | Purpose
Diarrhea lasting longer than 14 days which fails to respond to conventional management is defined as severe and protracted diarrhea and might overlap with inflammatory bowel disease (IBD).
Methods
The prevalence, associated pathogens, and prognosis of severe and protracted diarrhea without IBD (SD) and with monogenetic IBD (mono-IBD) in primary immunodeficiency patients (PID) were investigated in Taiwan.
Results
A total of 301 patients were enrolled between 2003 and 2022, with predominantly pediatric-onset PID. Of these, 24 PID patients developed the SD phenotype before prophylactic treatment, including Btk (six), IL2RG (four), WASP, CD40L, gp91 (three each), gp47, RAG1 (one each), CVID (two), and SCID (one) without identified mutations. The most detectable pathogens were pseudomonas and salmonella (six each), and all patients improved after approximately 2 weeks of antibiotic and/or IVIG treatments. Six (25.0%) mortalities without HSCT implementation were due to respiratory failure from interstitial pneumonia (3 SCID and 1 CGD), intracranial hemorrhage (WAS), and lymphoma (HIGM). In the mono-IBD group, seventeen patients with mutant TTC7A (2), FOXP3 (2), NEMO (2), XIAP (2), LRBA (1), TTC37 (3), IL10RA (1), STAT1 (1), ZAP70 (1), PIK3CD (1), and PIK3R1 (1) genes failed to respond to aggressive treatments. Nine mono-IBD patients with TTC7A (2), FOXP3 (2), NEMO (2), XIAP (2), and LRBA (1) mutations were fatal in the absence of HSCT. The mono-IBD group had a significantly earlier age of diarrhea onset (1.7 vs 33.3 months,
p
= 0.0056), a longer TPN duration (34.2 vs 7.0 months,
p
|
| doi_str_mv | 10.1007/s10875-023-01503-w |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_2816762212</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2816762212</sourcerecordid><originalsourceid>FETCH-LOGICAL-c326t-9679122f5ec31d658b92b0712a86d588e2a572165f9f23cb7406b226ec2d3bcf3</originalsourceid><addsrcrecordid>eNp9kcFu1DAURS0EotPCD7BAltiwCdjPtZ0sy9CWkYrooqwjx3lpXTl2sRNF8yd8Lm4zgMSClS35vGu9ewh5w9kHzpj-mDmrtawYiIpxyUS1PCMbLrWoQDbwnGwYaF41_BSOyHHO94wxoUC-JEdCAwOp9Yb83HoXnDWeXqCZ5oSZmtDTSww4OUvPgvH77DKNA70xbjEBM9Lr5EaT9nQ3jnOIPQ7OOgx2T6_NVC5Tpoub7goWfQy32NPPzqR0h-Yp-2sM8faQvwuDN-NopljiPsUFfWEzmoyvyIvB-IyvD-cJ-X5xfrP9Ul19u9xtz64qK0BNVaN0wwEGiVbwXsm6a6BjmoOpVS_rGsFIDVzJoRlA2E6fMtUBKLTQi84O4oS8X3MfUvwxY57a0WWL3pdV45xbqLnSCoBDQd_9g97HOZWGHilRFxc1l4WClbIp5pxwaB_WulrO2kdv7eqtLd7aJ2_tUobeHqLnbsT-z8hvUQUQK5DLU-k0_f37P7G_AHP9pV4</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2838875815</pqid></control><display><type>article</type><title>Clinical Features and Genetic Analysis of Taiwanese Primary Immunodeficiency Patients with Prolonged Diarrhea and Monogenetic Inflammatory Bowel Disease</title><source>SpringerNature Journals</source><creator>Lee, Wen-I. ; Chen, Chien-Chang ; Chen, Shih-Hsiang ; Lai, Wan-Tz ; Jaing, Tang-Her ; Ou, Liang-Shiou ; Liang, Chi-Jou ; Kang, Chen-Chen ; Huang, Jing-Long</creator><creatorcontrib>Lee, Wen-I. ; Chen, Chien-Chang ; Chen, Shih-Hsiang ; Lai, Wan-Tz ; Jaing, Tang-Her ; Ou, Liang-Shiou ; Liang, Chi-Jou ; Kang, Chen-Chen ; Huang, Jing-Long</creatorcontrib><description>Purpose
Diarrhea lasting longer than 14 days which fails to respond to conventional management is defined as severe and protracted diarrhea and might overlap with inflammatory bowel disease (IBD).
Methods
The prevalence, associated pathogens, and prognosis of severe and protracted diarrhea without IBD (SD) and with monogenetic IBD (mono-IBD) in primary immunodeficiency patients (PID) were investigated in Taiwan.
Results
A total of 301 patients were enrolled between 2003 and 2022, with predominantly pediatric-onset PID. Of these, 24 PID patients developed the SD phenotype before prophylactic treatment, including Btk (six), IL2RG (four), WASP, CD40L, gp91 (three each), gp47, RAG1 (one each), CVID (two), and SCID (one) without identified mutations. The most detectable pathogens were pseudomonas and salmonella (six each), and all patients improved after approximately 2 weeks of antibiotic and/or IVIG treatments. Six (25.0%) mortalities without HSCT implementation were due to respiratory failure from interstitial pneumonia (3 SCID and 1 CGD), intracranial hemorrhage (WAS), and lymphoma (HIGM). In the mono-IBD group, seventeen patients with mutant TTC7A (2), FOXP3 (2), NEMO (2), XIAP (2), LRBA (1), TTC37 (3), IL10RA (1), STAT1 (1), ZAP70 (1), PIK3CD (1), and PIK3R1 (1) genes failed to respond to aggressive treatments. Nine mono-IBD patients with TTC7A (2), FOXP3 (2), NEMO (2), XIAP (2), and LRBA (1) mutations were fatal in the absence of HSCT. The mono-IBD group had a significantly earlier age of diarrhea onset (1.7 vs 33.3 months,
p
= 0.0056), a longer TPN duration (34.2 vs 7.0 months,
p
< 0.0001), a shorter follow-up period (41.6 vs 132.6 months,
p
= 0.007), and a higher mortality rate (58.9 vs 25.0%,
p
= 0.012) compared with the SD group.
Conclusion
When compared to those with the SD phenotype, the mono-IBD patients had significant early-onset and poor responses to empiric antibiotics, IVIG, and steroids. Anti-inflammatory biologics and suitable HSCT still have the potential to control or even cure the mono-IBD phenotype.</description><identifier>ISSN: 0271-9142</identifier><identifier>EISSN: 1573-2592</identifier><identifier>DOI: 10.1007/s10875-023-01503-w</identifier><identifier>PMID: 37202577</identifier><language>eng</language><publisher>New York: Springer US</publisher><subject>Age ; Antibiotics ; Biomedical and Life Sciences ; Biomedicine ; CD40L protein ; Common variable immunodeficiency ; Diarrhea ; Foxp3 protein ; Genetic analysis ; Genotype & phenotype ; Hemorrhage ; Immune system ; Immunodeficiency ; Immunoglobulins ; Immunology ; Infectious Diseases ; Inflammatory bowel disease ; Inflammatory bowel diseases ; Internal Medicine ; Intestine ; Intravenous administration ; Lymphoma ; Medical Microbiology ; Mutation ; Original Article ; Pathogens ; Patients ; Pediatrics ; Phenotypes ; RAG1 protein ; Severe combined immunodeficiency ; Stat1 protein ; Steroid hormones ; XIAP protein ; ZAP-70 protein</subject><ispartof>Journal of clinical immunology, 2023-08, Vol.43 (6), p.1455-1467</ispartof><rights>The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature 2023. 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>2023. 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-c326t-9679122f5ec31d658b92b0712a86d588e2a572165f9f23cb7406b226ec2d3bcf3</cites><orcidid>0000-0003-2683-3169</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s10875-023-01503-w$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s10875-023-01503-w$$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/37202577$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Lee, Wen-I.</creatorcontrib><creatorcontrib>Chen, Chien-Chang</creatorcontrib><creatorcontrib>Chen, Shih-Hsiang</creatorcontrib><creatorcontrib>Lai, Wan-Tz</creatorcontrib><creatorcontrib>Jaing, Tang-Her</creatorcontrib><creatorcontrib>Ou, Liang-Shiou</creatorcontrib><creatorcontrib>Liang, Chi-Jou</creatorcontrib><creatorcontrib>Kang, Chen-Chen</creatorcontrib><creatorcontrib>Huang, Jing-Long</creatorcontrib><title>Clinical Features and Genetic Analysis of Taiwanese Primary Immunodeficiency Patients with Prolonged Diarrhea and Monogenetic Inflammatory Bowel Disease</title><title>Journal of clinical immunology</title><addtitle>J Clin Immunol</addtitle><addtitle>J Clin Immunol</addtitle><description>Purpose
Diarrhea lasting longer than 14 days which fails to respond to conventional management is defined as severe and protracted diarrhea and might overlap with inflammatory bowel disease (IBD).
Methods
The prevalence, associated pathogens, and prognosis of severe and protracted diarrhea without IBD (SD) and with monogenetic IBD (mono-IBD) in primary immunodeficiency patients (PID) were investigated in Taiwan.
Results
A total of 301 patients were enrolled between 2003 and 2022, with predominantly pediatric-onset PID. Of these, 24 PID patients developed the SD phenotype before prophylactic treatment, including Btk (six), IL2RG (four), WASP, CD40L, gp91 (three each), gp47, RAG1 (one each), CVID (two), and SCID (one) without identified mutations. The most detectable pathogens were pseudomonas and salmonella (six each), and all patients improved after approximately 2 weeks of antibiotic and/or IVIG treatments. Six (25.0%) mortalities without HSCT implementation were due to respiratory failure from interstitial pneumonia (3 SCID and 1 CGD), intracranial hemorrhage (WAS), and lymphoma (HIGM). In the mono-IBD group, seventeen patients with mutant TTC7A (2), FOXP3 (2), NEMO (2), XIAP (2), LRBA (1), TTC37 (3), IL10RA (1), STAT1 (1), ZAP70 (1), PIK3CD (1), and PIK3R1 (1) genes failed to respond to aggressive treatments. Nine mono-IBD patients with TTC7A (2), FOXP3 (2), NEMO (2), XIAP (2), and LRBA (1) mutations were fatal in the absence of HSCT. The mono-IBD group had a significantly earlier age of diarrhea onset (1.7 vs 33.3 months,
p
= 0.0056), a longer TPN duration (34.2 vs 7.0 months,
p
< 0.0001), a shorter follow-up period (41.6 vs 132.6 months,
p
= 0.007), and a higher mortality rate (58.9 vs 25.0%,
p
= 0.012) compared with the SD group.
Conclusion
When compared to those with the SD phenotype, the mono-IBD patients had significant early-onset and poor responses to empiric antibiotics, IVIG, and steroids. Anti-inflammatory biologics and suitable HSCT still have the potential to control or even cure the mono-IBD phenotype.</description><subject>Age</subject><subject>Antibiotics</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>CD40L protein</subject><subject>Common variable immunodeficiency</subject><subject>Diarrhea</subject><subject>Foxp3 protein</subject><subject>Genetic analysis</subject><subject>Genotype & phenotype</subject><subject>Hemorrhage</subject><subject>Immune system</subject><subject>Immunodeficiency</subject><subject>Immunoglobulins</subject><subject>Immunology</subject><subject>Infectious Diseases</subject><subject>Inflammatory bowel disease</subject><subject>Inflammatory bowel diseases</subject><subject>Internal Medicine</subject><subject>Intestine</subject><subject>Intravenous administration</subject><subject>Lymphoma</subject><subject>Medical Microbiology</subject><subject>Mutation</subject><subject>Original Article</subject><subject>Pathogens</subject><subject>Patients</subject><subject>Pediatrics</subject><subject>Phenotypes</subject><subject>RAG1 protein</subject><subject>Severe combined immunodeficiency</subject><subject>Stat1 protein</subject><subject>Steroid hormones</subject><subject>XIAP protein</subject><subject>ZAP-70 protein</subject><issn>0271-9142</issn><issn>1573-2592</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2023</creationdate><recordtype>article</recordtype><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNp9kcFu1DAURS0EotPCD7BAltiwCdjPtZ0sy9CWkYrooqwjx3lpXTl2sRNF8yd8Lm4zgMSClS35vGu9ewh5w9kHzpj-mDmrtawYiIpxyUS1PCMbLrWoQDbwnGwYaF41_BSOyHHO94wxoUC-JEdCAwOp9Yb83HoXnDWeXqCZ5oSZmtDTSww4OUvPgvH77DKNA70xbjEBM9Lr5EaT9nQ3jnOIPQ7OOgx2T6_NVC5Tpoub7goWfQy32NPPzqR0h-Yp-2sM8faQvwuDN-NopljiPsUFfWEzmoyvyIvB-IyvD-cJ-X5xfrP9Ul19u9xtz64qK0BNVaN0wwEGiVbwXsm6a6BjmoOpVS_rGsFIDVzJoRlA2E6fMtUBKLTQi84O4oS8X3MfUvwxY57a0WWL3pdV45xbqLnSCoBDQd_9g97HOZWGHilRFxc1l4WClbIp5pxwaB_WulrO2kdv7eqtLd7aJ2_tUobeHqLnbsT-z8hvUQUQK5DLU-k0_f37P7G_AHP9pV4</recordid><startdate>20230801</startdate><enddate>20230801</enddate><creator>Lee, Wen-I.</creator><creator>Chen, Chien-Chang</creator><creator>Chen, Shih-Hsiang</creator><creator>Lai, Wan-Tz</creator><creator>Jaing, Tang-Her</creator><creator>Ou, Liang-Shiou</creator><creator>Liang, Chi-Jou</creator><creator>Kang, Chen-Chen</creator><creator>Huang, Jing-Long</creator><general>Springer US</general><general>Springer Nature B.V</general><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>7X8</scope><orcidid>https://orcid.org/0000-0003-2683-3169</orcidid></search><sort><creationdate>20230801</creationdate><title>Clinical Features and Genetic Analysis of Taiwanese Primary Immunodeficiency Patients with Prolonged Diarrhea and Monogenetic Inflammatory Bowel Disease</title><author>Lee, Wen-I. ; Chen, Chien-Chang ; Chen, Shih-Hsiang ; Lai, Wan-Tz ; Jaing, Tang-Her ; Ou, Liang-Shiou ; Liang, Chi-Jou ; Kang, Chen-Chen ; Huang, Jing-Long</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c326t-9679122f5ec31d658b92b0712a86d588e2a572165f9f23cb7406b226ec2d3bcf3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2023</creationdate><topic>Age</topic><topic>Antibiotics</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>CD40L protein</topic><topic>Common variable immunodeficiency</topic><topic>Diarrhea</topic><topic>Foxp3 protein</topic><topic>Genetic analysis</topic><topic>Genotype & phenotype</topic><topic>Hemorrhage</topic><topic>Immune system</topic><topic>Immunodeficiency</topic><topic>Immunoglobulins</topic><topic>Immunology</topic><topic>Infectious Diseases</topic><topic>Inflammatory bowel disease</topic><topic>Inflammatory bowel diseases</topic><topic>Internal Medicine</topic><topic>Intestine</topic><topic>Intravenous administration</topic><topic>Lymphoma</topic><topic>Medical Microbiology</topic><topic>Mutation</topic><topic>Original Article</topic><topic>Pathogens</topic><topic>Patients</topic><topic>Pediatrics</topic><topic>Phenotypes</topic><topic>RAG1 protein</topic><topic>Severe combined immunodeficiency</topic><topic>Stat1 protein</topic><topic>Steroid hormones</topic><topic>XIAP protein</topic><topic>ZAP-70 protein</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Lee, Wen-I.</creatorcontrib><creatorcontrib>Chen, Chien-Chang</creatorcontrib><creatorcontrib>Chen, Shih-Hsiang</creatorcontrib><creatorcontrib>Lai, Wan-Tz</creatorcontrib><creatorcontrib>Jaing, Tang-Her</creatorcontrib><creatorcontrib>Ou, Liang-Shiou</creatorcontrib><creatorcontrib>Liang, Chi-Jou</creatorcontrib><creatorcontrib>Kang, Chen-Chen</creatorcontrib><creatorcontrib>Huang, Jing-Long</creatorcontrib><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>MEDLINE - Academic</collection><jtitle>Journal of clinical immunology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Lee, Wen-I.</au><au>Chen, Chien-Chang</au><au>Chen, Shih-Hsiang</au><au>Lai, Wan-Tz</au><au>Jaing, Tang-Her</au><au>Ou, Liang-Shiou</au><au>Liang, Chi-Jou</au><au>Kang, Chen-Chen</au><au>Huang, Jing-Long</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Clinical Features and Genetic Analysis of Taiwanese Primary Immunodeficiency Patients with Prolonged Diarrhea and Monogenetic Inflammatory Bowel Disease</atitle><jtitle>Journal of clinical immunology</jtitle><stitle>J Clin Immunol</stitle><addtitle>J Clin Immunol</addtitle><date>2023-08-01</date><risdate>2023</risdate><volume>43</volume><issue>6</issue><spage>1455</spage><epage>1467</epage><pages>1455-1467</pages><issn>0271-9142</issn><eissn>1573-2592</eissn><abstract>Purpose
Diarrhea lasting longer than 14 days which fails to respond to conventional management is defined as severe and protracted diarrhea and might overlap with inflammatory bowel disease (IBD).
Methods
The prevalence, associated pathogens, and prognosis of severe and protracted diarrhea without IBD (SD) and with monogenetic IBD (mono-IBD) in primary immunodeficiency patients (PID) were investigated in Taiwan.
Results
A total of 301 patients were enrolled between 2003 and 2022, with predominantly pediatric-onset PID. Of these, 24 PID patients developed the SD phenotype before prophylactic treatment, including Btk (six), IL2RG (four), WASP, CD40L, gp91 (three each), gp47, RAG1 (one each), CVID (two), and SCID (one) without identified mutations. The most detectable pathogens were pseudomonas and salmonella (six each), and all patients improved after approximately 2 weeks of antibiotic and/or IVIG treatments. Six (25.0%) mortalities without HSCT implementation were due to respiratory failure from interstitial pneumonia (3 SCID and 1 CGD), intracranial hemorrhage (WAS), and lymphoma (HIGM). In the mono-IBD group, seventeen patients with mutant TTC7A (2), FOXP3 (2), NEMO (2), XIAP (2), LRBA (1), TTC37 (3), IL10RA (1), STAT1 (1), ZAP70 (1), PIK3CD (1), and PIK3R1 (1) genes failed to respond to aggressive treatments. Nine mono-IBD patients with TTC7A (2), FOXP3 (2), NEMO (2), XIAP (2), and LRBA (1) mutations were fatal in the absence of HSCT. The mono-IBD group had a significantly earlier age of diarrhea onset (1.7 vs 33.3 months,
p
= 0.0056), a longer TPN duration (34.2 vs 7.0 months,
p
< 0.0001), a shorter follow-up period (41.6 vs 132.6 months,
p
= 0.007), and a higher mortality rate (58.9 vs 25.0%,
p
= 0.012) compared with the SD group.
Conclusion
When compared to those with the SD phenotype, the mono-IBD patients had significant early-onset and poor responses to empiric antibiotics, IVIG, and steroids. Anti-inflammatory biologics and suitable HSCT still have the potential to control or even cure the mono-IBD phenotype.</abstract><cop>New York</cop><pub>Springer US</pub><pmid>37202577</pmid><doi>10.1007/s10875-023-01503-w</doi><tpages>13</tpages><orcidid>https://orcid.org/0000-0003-2683-3169</orcidid></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0271-9142 |
| ispartof | Journal of clinical immunology, 2023-08, Vol.43 (6), p.1455-1467 |
| issn | 0271-9142 1573-2592 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_2816762212 |
| source | SpringerNature Journals |
| subjects | Age Antibiotics Biomedical and Life Sciences Biomedicine CD40L protein Common variable immunodeficiency Diarrhea Foxp3 protein Genetic analysis Genotype & phenotype Hemorrhage Immune system Immunodeficiency Immunoglobulins Immunology Infectious Diseases Inflammatory bowel disease Inflammatory bowel diseases Internal Medicine Intestine Intravenous administration Lymphoma Medical Microbiology Mutation Original Article Pathogens Patients Pediatrics Phenotypes RAG1 protein Severe combined immunodeficiency Stat1 protein Steroid hormones XIAP protein ZAP-70 protein |
| title | Clinical Features and Genetic Analysis of Taiwanese Primary Immunodeficiency Patients with Prolonged Diarrhea and Monogenetic Inflammatory Bowel Disease |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-28T01%3A10%3A13IST&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=Clinical%20Features%20and%20Genetic%20Analysis%20of%20Taiwanese%20Primary%20Immunodeficiency%20Patients%20with%20Prolonged%20Diarrhea%20and%20Monogenetic%20Inflammatory%20Bowel%20Disease&rft.jtitle=Journal%20of%20clinical%20immunology&rft.au=Lee,%20Wen-I.&rft.date=2023-08-01&rft.volume=43&rft.issue=6&rft.spage=1455&rft.epage=1467&rft.pages=1455-1467&rft.issn=0271-9142&rft.eissn=1573-2592&rft_id=info:doi/10.1007/s10875-023-01503-w&rft_dat=%3Cproquest_cross%3E2816762212%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=2838875815&rft_id=info:pmid/37202577&rfr_iscdi=true |