Gain-of-function mutations in signal transducer and activator of transcription 1 ( STAT1 ): Chronic mucocutaneous candidiasis accompanied by enamel defects and delayed dental shedding
Immunophenotyping showed a low percentage of switched memory B cells (1.3%; normal range, 5% to 10%; see Table E3 in this article's Online Repository at www.jacionline.org). Because withdrawal of IVIG was associated with an increased incidence of pneumonia, treatment was optimized by restarting...
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| creator | Frans, Glynis, MPharm Moens, Leen, PhD Schaballie, Heidi, MD Van Eyck, Lien, MD, MSc Borgers, Heleen, PhD Wuyts, Margareta, BSc Dillaerts, Doreen, MSc Vermeulen, Edith, MPharm Dooley, James, PhD Grimbacher, Bodo, MD, PhD Cant, Andrew, MD, PhD Declerck, Dominique, PhD Peumans, Marleen, PhD Renard, Marleen, MD De Boeck, Kris, MD, PhD Hoffman, Ilse, MD, PhD François, Inge, MD, PhD Liston, Adrian, PhD Claessens, Frank, MD, PhD Bossuyt, Xavier, MD, PhD Meyts, Isabelle, MD, PhD |
| description | Immunophenotyping showed a low percentage of switched memory B cells (1.3%; normal range, 5% to 10%; see Table E3 in this article's Online Repository at www.jacionline.org). Because withdrawal of IVIG was associated with an increased incidence of pneumonia, treatment was optimized by restarting IVIG and initiating azithromycin (both for antibacterial prophylaxis and its anti-inflammatory actions) and fluconazole prophylaxis, as well as overnight tube feeding. [...]at the age of 18 years, hypothyroidism was diagnosed almost simultaneously with the initial reports on STAT1 coiled-coil domain gain-of-function mutations.3,4 A mutation in the DNA-binding domain of STAT1 was detected (c.1154C>T, p.T385M; Fig 2, A; for information on the analysis, see the Results section in this article's Online Repository at www.jacionline.org). |
| doi_str_mv | 10.1016/j.jaci.2014.05.044 |
| format | Article |
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Because withdrawal of IVIG was associated with an increased incidence of pneumonia, treatment was optimized by restarting IVIG and initiating azithromycin (both for antibacterial prophylaxis and its anti-inflammatory actions) and fluconazole prophylaxis, as well as overnight tube feeding. [...]at the age of 18 years, hypothyroidism was diagnosed almost simultaneously with the initial reports on STAT1 coiled-coil domain gain-of-function mutations.3,4 A mutation in the DNA-binding domain of STAT1 was detected (c.1154C>T, p.T385M; Fig 2, A; for information on the analysis, see the Results section in this article's Online Repository at www.jacionline.org).</description><identifier>ISSN: 0091-6749</identifier><identifier>EISSN: 1097-6825</identifier><identifier>DOI: 10.1016/j.jaci.2014.05.044</identifier><identifier>PMID: 25042743</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>Adolescent ; Age ; Allergy and Immunology ; Candidiasis, Chronic Mucocutaneous - genetics ; Candidiasis, Chronic Mucocutaneous - pathology ; Defects ; Dental Enamel - abnormalities ; Deoxyribonucleic acid ; Dermatitis ; DNA ; Enamel ; Fractures ; Growth hormones ; Hernias ; Humans ; Hypothyroidism ; Immune system ; Letter to the Editor ; Male ; Mutation ; STAT1 Transcription Factor - genetics ; Streptococcus infections ; Teeth ; Tetanus ; Tooth Abnormalities - genetics ; Tooth Abnormalities - pathology ; Vaccines</subject><ispartof>Journal of allergy and clinical immunology, 2014-11, Vol.134 (5), p.1209-1213.e6</ispartof><rights>The Authors</rights><rights>2014 The Authors</rights><rights>Copyright Elsevier Limited Nov 2014</rights><rights>2014 The Authors 2014</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c641t-28734e0c005703bf26075297b459b8c240b02a028a257f8925a0b73f51f5ad493</citedby><cites>FETCH-LOGICAL-c641t-28734e0c005703bf26075297b459b8c240b02a028a257f8925a0b73f51f5ad493</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0091674914008082$$EHTML$$P50$$Gelsevier$$Hfree_for_read</linktohtml><link.rule.ids>230,314,776,780,881,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/25042743$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Frans, Glynis, MPharm</creatorcontrib><creatorcontrib>Moens, Leen, PhD</creatorcontrib><creatorcontrib>Schaballie, Heidi, MD</creatorcontrib><creatorcontrib>Van Eyck, Lien, MD, MSc</creatorcontrib><creatorcontrib>Borgers, Heleen, PhD</creatorcontrib><creatorcontrib>Wuyts, Margareta, BSc</creatorcontrib><creatorcontrib>Dillaerts, Doreen, MSc</creatorcontrib><creatorcontrib>Vermeulen, Edith, MPharm</creatorcontrib><creatorcontrib>Dooley, James, PhD</creatorcontrib><creatorcontrib>Grimbacher, Bodo, MD, PhD</creatorcontrib><creatorcontrib>Cant, Andrew, MD, PhD</creatorcontrib><creatorcontrib>Declerck, Dominique, PhD</creatorcontrib><creatorcontrib>Peumans, Marleen, PhD</creatorcontrib><creatorcontrib>Renard, Marleen, MD</creatorcontrib><creatorcontrib>De Boeck, Kris, MD, PhD</creatorcontrib><creatorcontrib>Hoffman, Ilse, MD, PhD</creatorcontrib><creatorcontrib>François, Inge, MD, PhD</creatorcontrib><creatorcontrib>Liston, Adrian, PhD</creatorcontrib><creatorcontrib>Claessens, Frank, MD, PhD</creatorcontrib><creatorcontrib>Bossuyt, Xavier, MD, PhD</creatorcontrib><creatorcontrib>Meyts, Isabelle, MD, PhD</creatorcontrib><title>Gain-of-function mutations in signal transducer and activator of transcription 1 ( STAT1 ): Chronic mucocutaneous candidiasis accompanied by enamel defects and delayed dental shedding</title><title>Journal of allergy and clinical immunology</title><addtitle>J Allergy Clin Immunol</addtitle><description>Immunophenotyping showed a low percentage of switched memory B cells (1.3%; normal range, 5% to 10%; see Table E3 in this article's Online Repository at www.jacionline.org). Because withdrawal of IVIG was associated with an increased incidence of pneumonia, treatment was optimized by restarting IVIG and initiating azithromycin (both for antibacterial prophylaxis and its anti-inflammatory actions) and fluconazole prophylaxis, as well as overnight tube feeding. [...]at the age of 18 years, hypothyroidism was diagnosed almost simultaneously with the initial reports on STAT1 coiled-coil domain gain-of-function mutations.3,4 A mutation in the DNA-binding domain of STAT1 was detected (c.1154C>T, p.T385M; Fig 2, A; for information on the analysis, see the Results section in this article's Online Repository at www.jacionline.org).</description><subject>Adolescent</subject><subject>Age</subject><subject>Allergy and Immunology</subject><subject>Candidiasis, Chronic Mucocutaneous - genetics</subject><subject>Candidiasis, Chronic Mucocutaneous - pathology</subject><subject>Defects</subject><subject>Dental Enamel - abnormalities</subject><subject>Deoxyribonucleic acid</subject><subject>Dermatitis</subject><subject>DNA</subject><subject>Enamel</subject><subject>Fractures</subject><subject>Growth hormones</subject><subject>Hernias</subject><subject>Humans</subject><subject>Hypothyroidism</subject><subject>Immune system</subject><subject>Letter to the Editor</subject><subject>Male</subject><subject>Mutation</subject><subject>STAT1 Transcription Factor - 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| subjects | Adolescent Age Allergy and Immunology Candidiasis, Chronic Mucocutaneous - genetics Candidiasis, Chronic Mucocutaneous - pathology Defects Dental Enamel - abnormalities Deoxyribonucleic acid Dermatitis DNA Enamel Fractures Growth hormones Hernias Humans Hypothyroidism Immune system Letter to the Editor Male Mutation STAT1 Transcription Factor - genetics Streptococcus infections Teeth Tetanus Tooth Abnormalities - genetics Tooth Abnormalities - pathology Vaccines |
| title | Gain-of-function mutations in signal transducer and activator of transcription 1 ( STAT1 ): Chronic mucocutaneous candidiasis accompanied by enamel defects and delayed dental shedding |
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