Omalizumab in the Treatment of Hyper-IgE Syndrome: 2 Case Reports

Gomes, Nuno; Miranda, João; Lopes, Susana; Carneiro‐Leão, Leonor; Costa, Joana; Baudrier, Teresa; Azevedo, Filomena

doi:10.18176/jiaci.0469

Cited by 13 publications

(11 citation statements)

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“…Pneumonia is common, and predisposes to formation of bronchiectasis and pneumatoceles [123,124] Consider antifungal prophylaxis with mold-active azoles such as itraconazole in patients with parenchymal disease (bronchiectasis, pneumatocele)…”

Section: Recurrent Pulmonary Infection Offer Twice-daily Co-trimoxazole Prophylaxismentioning

confidence: 99%

STAT3 Hyper-IgE Syndrome—an Update and Unanswered Questions

2021

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The hyper-IgE syndromes (HIES) are a heterogeneous group of inborn errors of immunity sharing manifestations including increased infection susceptibility, eczema, and raised serum IgE. Since the prototypical HIES description 55 years ago, areas of significant progress have included description of key disease-causing genes and differentiation into clinically distinct entities. The first two patients reported had what is now understood to be HIES from dominant-negative mutations in signal transduction and activator of transcription 3 (STAT3-HIES), conferring a broad immune defect across both innate and acquired arms, as well as defects in skeletal, connective tissue, and vascular function, causing a clinical phenotype including eczema, staphylococcal and fungal skin and pulmonary infection, scoliosis and minimal trauma fractures, and vascular tortuosity and aneurysm. Due to the constitutionally expressed nature of STAT3, initial reports at treatment with allogeneic stem cell transplantation were not positive and treatment has hinged on aggressive antimicrobial prophylaxis and treatment to prevent the development of end-organ disease such as pneumatocele. Research into the pathophysiology of STAT3-HIES has driven understanding of the interface of several signaling pathways, including the JAK-STAT pathways, interleukins 6 and 17, and the role of Th17 lymphocytes, and has been expanded by identification of phenocopies such as mutations in IL6ST and ZNF341. In this review we summarize the published literature on STAT3-HIES, present the diverse clinical manifestations of this syndrome with current management strategies, and update on the uncertain role of stem cell transplantation for this disease. We outline key unanswered questions for further study.

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Section: Recurrent Pulmonary Infection Offer Twice-daily Co-trimoxazole Prophylaxismentioning

confidence: 99%

STAT3 Hyper-IgE Syndrome—an Update and Unanswered Questions

2021

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“…Some of these rare primary immunodeficiencies caused by STAT3 mutations [31, 84 ] are characterized by extremely high serum IgE levels (often above 10,000 kU/L) and are associated with a pruritic eczematous skin rash, eosinophilia and impairments of other organ systems including intelligence and motor function. These human hyper‐IgE syndromes (HIES) include the autosomal dominant Job´s syndrome and autosomal recessive PGM3 (phosphoglucomutase 3) and SPINK5 (Serine Peptidase Inhibitor Kazal Type 5) syndromes, that can be successfully treated with anti‐IgE antibody therapy [85 ] or stem cell transplantation [86 ].…”

Section: Part 6: Other Conditions Affecting Ige Levelsmentioning

confidence: 99%

AllergoOncology: ultra-low IgE, a potential novel biomarker in cancer—a Position Paper of the European Academy of Allergy and Clinical Immunology (EAACI)

Ferastraoaru

Bax

Bergmann³

et al. 2020

Clin Transl Allergy

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Elevated serum IgE levels are associated with allergic disorders, parasitosis and specific immunologic abnormalities. In addition, epidemiological and mechanistic evidence indicates an association between IgE-mediated immune surveillance and protection from tumour growth. Intriguingly, recent studies reveal a correlation between IgE deficiency and increased malignancy risk. This is the first review discussing IgE levels and links to pathological conditions, with special focus on the potential clinical significance of ultra-low serum IgE levels and risk of malignancy. In this Position Paper we discuss: (a) the utility of measuring total IgE levels in the management of allergies, parasitosis, and immunodeficiencies, (b) factors that may influence serum IgE levels, (c) IgE as a marker of different disorders, and d) the relationship between ultra-low IgE levels and malignancy susceptibility. While elevated serum IgE is generally associated with allergic/atopic conditions, very low or absent IgE may hamper anti-tumour surveillance, indicating the importance of a balanced IgE-mediated immune function. Ultra-low IgE may prove to be an unexpected biomarker for cancer risk. Nevertheless, given the early stage of investigations conducted mostly in patients with diseases that influence IgE levels, in-depth mechanistic studies and stratification of malignancy risk based on associated demographic, immunological and clinical co-factors are warranted.

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“…It is effective in chronic idiopathic urticaria in reducing skin symptoms and pruritus 74 . Improvement has also been demonstrated in case reports of hyper‐IgE syndrome 75,76 …”

Section: Immune Deficiencies With Atopic Phenotypesmentioning

confidence: 95%

Genodermatoses with itch as a prominent feature

Fourzali

Yosipovitch

2020

Acad Dermatol Venereol

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A number of inherited conditions cause chronic itch as a part of the recognized phenotype. Advances in the understanding of the genetic factors that cause these diseases elucidate the molecular underpinning of itch as a symptom. Our knowledge of the causes of chronic itch has also advanced, providing an opportunity to integrate the genetic pathophysiology with the molecular landscape of chronic itch mediators. This article reviews select genodermatoses that have itch as a predominant feature with a focus on the pathophysiology of the disease, how it may lead to itch and potential therapeutic targets.

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Omalizumab in the Treatment of Hyper-IgE Syndrome: 2 Case Reports

Abstract: Supplementary material Figure 1 (A-D): Dorsum of patient 1, previous to omalizumab-1A-and after 6 months' follow-up-1B; Dorsum of patient 2, previous to omalizumab-1C-and after 11 months' follow-up-1D.

Cited by 13 publications

References 0 publications

STAT3 Hyper-IgE Syndrome—an Update and Unanswered Questions

STAT3 Hyper-IgE Syndrome—an Update and Unanswered Questions

AllergoOncology: ultra-low IgE, a potential novel biomarker in cancer—a Position Paper of the European Academy of Allergy and Clinical Immunology (EAACI)

Genodermatoses with itch as a prominent feature

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