Learning from Job: A Rare Genetic Disease and Lessons of Biblical Proportions
Dominant negative mutations in STAT3, a critical signaling molecule and transcription factor in multiple organ systems, lead to a rare monogenic disease called the STAT3 loss-of-function, autosomal dominant hyper-IgE syndrome (STAT3LOF AD-HIES). The original name for this syndrome, Job’s syndrome, w...
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| Format: | Article |
| Language: | English |
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Rambam Health Care Campus
2018-01-01
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| Series: | Rambam Maimonides Medical Journal |
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| Online Access: | https://www.rmmj.org.il/issues/36/814/manuscript |
| _version_ | 1811286207950225408 |
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| author | Joshua D. Milner |
| author_facet | Joshua D. Milner |
| author_sort | Joshua D. Milner |
| collection | DOAJ |
| description | Dominant negative mutations in STAT3, a critical signaling molecule and transcription factor in multiple organ systems, lead to a rare monogenic disease called the STAT3 loss-of-function, autosomal dominant hyper-IgE syndrome (STAT3LOF AD-HIES). The original name for this syndrome, Job’s syndrome, was derived from the observation that patients had a propensity to develop skin boils, reminiscent of the affliction cast upon the biblical Job. Many fascinating observations have been made regarding the pathogenesis of the disease and the role STAT3 plays in human health and disease. Additionally, quite a few phenotypic descriptions from the Book of Job are similar to those seen in patients with STAT3LOF AD-HIES, beyond just the boils. This complex multisystem genetic disorder is a challenge clinically and scientifically, but it also brings into question how we approach genetic syndromes beyond just the technical aspects of research and treatment. |
| first_indexed | 2024-04-13T02:56:21Z |
| format | Article |
| id | doaj.art-c9bd5e2f6a4a4a4eb78553e6d3af4c74 |
| institution | Directory Open Access Journal |
| issn | 2076-9172 |
| language | English |
| last_indexed | 2024-04-13T02:56:21Z |
| publishDate | 2018-01-01 |
| publisher | Rambam Health Care Campus |
| record_format | Article |
| series | Rambam Maimonides Medical Journal |
| spelling | doaj.art-c9bd5e2f6a4a4a4eb78553e6d3af4c742022-12-22T03:05:39ZengRambam Health Care CampusRambam Maimonides Medical Journal2076-91722018-01-0191e000610.5041/RMMJ.10326Learning from Job: A Rare Genetic Disease and Lessons of Biblical ProportionsJoshua D. Milner0Chief, Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USADominant negative mutations in STAT3, a critical signaling molecule and transcription factor in multiple organ systems, lead to a rare monogenic disease called the STAT3 loss-of-function, autosomal dominant hyper-IgE syndrome (STAT3LOF AD-HIES). The original name for this syndrome, Job’s syndrome, was derived from the observation that patients had a propensity to develop skin boils, reminiscent of the affliction cast upon the biblical Job. Many fascinating observations have been made regarding the pathogenesis of the disease and the role STAT3 plays in human health and disease. Additionally, quite a few phenotypic descriptions from the Book of Job are similar to those seen in patients with STAT3LOF AD-HIES, beyond just the boils. This complex multisystem genetic disorder is a challenge clinically and scientifically, but it also brings into question how we approach genetic syndromes beyond just the technical aspects of research and treatment.https://www.rmmj.org.il/issues/36/814/manuscriptHyper-IgEinfectionmonogenic disease |
| spellingShingle | Joshua D. Milner Learning from Job: A Rare Genetic Disease and Lessons of Biblical Proportions Rambam Maimonides Medical Journal Hyper-IgE infection monogenic disease |
| title | Learning from Job: A Rare Genetic Disease and Lessons of Biblical Proportions |
| title_full | Learning from Job: A Rare Genetic Disease and Lessons of Biblical Proportions |
| title_fullStr | Learning from Job: A Rare Genetic Disease and Lessons of Biblical Proportions |
| title_full_unstemmed | Learning from Job: A Rare Genetic Disease and Lessons of Biblical Proportions |
| title_short | Learning from Job: A Rare Genetic Disease and Lessons of Biblical Proportions |
| title_sort | learning from job a rare genetic disease and lessons of biblical proportions |
| topic | Hyper-IgE infection monogenic disease |
| url | https://www.rmmj.org.il/issues/36/814/manuscript |
| work_keys_str_mv | AT joshuadmilner learningfromjobararegeneticdiseaseandlessonsofbiblicalproportions |