STAT3 dominant negative Hyper-IgE syndrome: A patient report with actionable genomic findings.

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Title: STAT3 dominant negative Hyper-IgE syndrome: A patient report with actionable genomic findings.
Authors: Bloom AS; Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), 10 Center Drive, Bethesda, MD, 20892, USA. Electronic address: aislinn.bloom@nih.gov., Amendola LM; Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), 10 Center Drive, Bethesda, MD, 20892, USA. Electronic address: laura.amendola@nih.gov., Reynolds-Lallement N; Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), 10 Center Drive, Bethesda, MD, 20892, USA. Electronic address: nadjalisse.reynolds-lallement@nih.gov., Urban A; Clinical Research Directorate, Frederick National Laboratory for Cancer Research, National Institutes of Health (NIH), 10 Center Drive, Bethesda, MD, 20892, USA. Electronic address: amanda.urban@nih.gov., Freeman AF; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health (NIH), 10 Center Drive, Bethesda, MD, 20892, USA. Electronic address: freemaal@mail.nih.gov., Walkiewicz MA; Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), 10 Center Drive, Bethesda, MD, 20892, USA. Electronic address: magdalena.walkiewicz@nih.gov., Similuk MN; Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), 10 Center Drive, Bethesda, MD, 20892, USA. Electronic address: morgan.similuk@nih.gov.
Source: European journal of medical genetics [Eur J Med Genet] 2026 May; Vol. 81, pp. 105077. Date of Electronic Publication: 2026 Apr 13.
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: STAT3 dominant negative Hyper-IgE syndrome: A patient report with actionable genomic findings.
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  Data: <searchLink fieldCode="AU" term="%22Bloom+AS%22">Bloom AS</searchLink>; Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), 10 Center Drive, Bethesda, MD, 20892, USA. Electronic address: aislinn.bloom@nih.gov.<br /><searchLink fieldCode="AU" term="%22Amendola+LM%22">Amendola LM</searchLink>; Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), 10 Center Drive, Bethesda, MD, 20892, USA. Electronic address: laura.amendola@nih.gov.<br /><searchLink fieldCode="AU" term="%22Reynolds-Lallement+N%22">Reynolds-Lallement N</searchLink>; Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), 10 Center Drive, Bethesda, MD, 20892, USA. Electronic address: nadjalisse.reynolds-lallement@nih.gov.<br /><searchLink fieldCode="AU" term="%22Urban+A%22">Urban A</searchLink>; Clinical Research Directorate, Frederick National Laboratory for Cancer Research, National Institutes of Health (NIH), 10 Center Drive, Bethesda, MD, 20892, USA. Electronic address: amanda.urban@nih.gov.<br /><searchLink fieldCode="AU" term="%22Freeman+AF%22">Freeman AF</searchLink>; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health (NIH), 10 Center Drive, Bethesda, MD, 20892, USA. Electronic address: freemaal@mail.nih.gov.<br /><searchLink fieldCode="AU" term="%22Walkiewicz+MA%22">Walkiewicz MA</searchLink>; Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), 10 Center Drive, Bethesda, MD, 20892, USA. Electronic address: magdalena.walkiewicz@nih.gov.<br /><searchLink fieldCode="AU" term="%22Similuk+MN%22">Similuk MN</searchLink>; Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), 10 Center Drive, Bethesda, MD, 20892, USA. Electronic address: morgan.similuk@nih.gov.
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  Data: <searchLink fieldCode="JN" term="%22101247089%22">European journal of medical genetics</searchLink> [Eur J Med Genet] 2026 May; Vol. 81, pp. 105077. <i>Date of Electronic Publication: </i>2026 Apr 13.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier%22">Elsevier </searchLink><i>Country of Publication: </i>Netherlands <i>NLM ID: </i>101247089 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1878-0849 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217697212%22">17697212 </searchLink><i>NLM ISO Abbreviation: </i>Eur J Med Genet <i>Subsets: </i>MEDLINE
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              Text: 2026 May
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