Squamous Cell Carcinoma With Hyper-IgE Syndrome: A Case Report

Şaşihüseyinoğlu, Ayşe Şenay; Yılmaz, M.; Altıntaş, Derya Ufuk; Doğruel, Dilek; Serbes, Mahir; Uğuz, Aysun; Kıroğlu, Mete

doi:10.1097/mph.0000000000000954

Cited by 2 publications

(7 citation statements)

References 9 publications

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“…12,100 HIES is classified as autosomal dominant (AD-HIES) 12,101 or autosomal recessive (AR-HIES). 102 Causal mutations in signal transducer and activator of transcription 3 (STAT3) have been found in AD-HIES. 100,101,103 Gain of function mutations in STAT3 have been linked to various cancers, such as diffuse B-cell lymphoma, 104 and typically correlate with poor prognosis, [104][105][106] and typically correlate with poor prognosis.…”

Section: Hyper Ige Syndromementioning

confidence: 99%

“…AR-HIES also confers a high risk of malignancy. 102 It is commonly caused by LOF mutations in the dedicator of cytokinesis 8 (DOCK8). 110 In addition to lymphomas, patients with DOCK8 deficiency are susceptible to epithelial cancers.…”

Section: Hyper Ige Syndromementioning

confidence: 99%

“…4 This is illustrated by a case of human papilloma virus-induced squamous cell carcinoma in an AR-HIES patient with homozygous DOCK8 mutations. 102 Susceptibility to infections, including herpetic viral skin infections, likely result from the defective DOCK8-regulated actin skeleton. Insufficient coordination of the actin cytoskeletal network leads to T and NK cell death when migrating through compact tissues such as collagen-rich skin, limiting the frequency of skin-resident memory CD8 + T-cells thus increasing susceptibility to skin infections.…”

Section: Hyper Ige Syndromementioning

confidence: 99%

“…Hyper Immunoglobulin (Ig) E syndrome (HIES) is an uncommon condition characterised by a raised serum IgE (≥2000 IU/mL) alongside eczema, recurrent skin and pulmonary infections, and skeletal/connective tissue defects 12, 100 . HIES is classified as autosomal dominant (AD‐HIES) 12, 101 or autosomal recessive (AR‐HIES) 102 …”

Section: Hyper Ige Syndromementioning

confidence: 99%

“…AR‐HIES also confers a high risk of malignancy 102 . It is commonly caused by LOF mutations in the dedicator of cytokinesis 8 ( DOCK8 ) 110 .…”

Section: Hyper Ige Syndromementioning

confidence: 99%

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Malignancy‐associated immune responses: Lessons from human inborn errors of immunity

Aliyath,

Eni‐Olotu,

Donaldson

et al. 2023

Immunology

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It is widely understood that cancer is a significant cause of morbidity and mortality worldwide. Despite numerous available treatments, prognosis for many remains poor, thus, the development of novel therapies remains essential. Given the incredible success of many immunotherapies in this field, the important contribution of the immune system to the control, and elimination, of malignancy is clear. While many immunotherapies target higher‐order pathways, for example, through promoting T‐cell activation via immune checkpoint blockade, the potential to target specific immunological pathways is largely not well researched. Precisely understanding how immunity can be tailored to respond to specific challenges is an exciting idea with great potential, and may trigger the development of new therapies for cancer. Inborn Errors of Immunity (IEI) are a group of rare congenital disorders caused by gene mutations that result in immune dysregulation. This heterogeneous group, spanning widespread, multisystem immunopathology to specific immune cell defects, primarily manifest in immunodeficiency symptoms. Thus, these patients are particularly susceptible to life‐threatening infection, autoimmunity and malignancy, making IEI an especially complex group of diseases. While precise mechanisms of IEI‐induced malignancy have not yet been fully elucidated, analysis of these conditions can highlight the importance of particular genes, and downstream immune responses, in carcinogenesis and may help inform mechanisms which can be utilised in novel immunotherapies. In this review, we examine the links between IEIs and cancer, establishing potential connections between immune dysfunction and malignancy and suggesting roles for specific immunological mechanisms involved in preventing carcinogenesis, thus, guiding essential future research focused on cancer immunotherapy and providing valuable insight into the workings of the immune system in both health and disease.

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Section: Hyper Ige Syndromementioning

confidence: 99%

Section: Hyper Ige Syndromementioning

confidence: 99%

Section: Hyper Ige Syndromementioning

confidence: 99%

Section: Hyper Ige Syndromementioning

confidence: 99%

“…AR‐HIES also confers a high risk of malignancy 102 . It is commonly caused by LOF mutations in the dedicator of cytokinesis 8 ( DOCK8 ) 110 .…”

Section: Hyper Ige Syndromementioning

confidence: 99%

See 3 more Smart Citations

Malignancy‐associated immune responses: Lessons from human inborn errors of immunity

Aliyath,

Eni‐Olotu,

Donaldson

et al. 2023

Immunology

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Rubella virus chronic inflammatory disease and other unusual viral phenotypes in inborn errors of immunity

Kilich,

Perelygina,

Sullivan

2023

Immunological Reviews

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SummaryInfectious susceptibility is a component of many inborn errors of immunity. Nevertheless, antibiotic use is often used as a surrogate in history taking for infectious susceptibility, thereby disadvantaging patients who present with viral infections as their phenotype. Further complicating clinical evaluations are unusual manifestations of viral infections which may be less familiar that the typical respiratory viral infections. This review covers several unusual viral phenotypes arising in patients with inborn errors of immunity and other settings of immune compromise. In some cases, chronic infections lead to oncogenesis or tumor‐like growths and the conditions and mechanisms of viral‐induced oncogenesis will be described. This review covers enterovirus, rubella, measles, papillomavirus, and parvovirus B19. It does not cover EBV and hemophagocytic lymphohistiocytosis nor lymphomagenesis related to EBV. EBV susceptibility has been recently reviewed. Our goal is to increase awareness of the unusual manifestations of viral infections in patients with IEI and to describe treatment modalities utilized in this setting. Coincidentally, each of the discussed viral infections can have a cutaneous component and figures will serve as a reminder of the physical features of these viruses. Given the high morbidity and mortality, early recognition can only improve outcomes.

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Squamous Cell Carcinoma With Hyper-IgE Syndrome: A Case Report

Abstract: Patients with autosomal recessive HIES are at an increased risk for infections and malignancies. SCC should be considered in the differential diagnosis of the patients presenting with recurrent middle ear infections and immunodeficiency.

Cited by 2 publications

References 9 publications

Malignancy‐associated immune responses: Lessons from human inborn errors of immunity

Malignancy‐associated immune responses: Lessons from human inborn errors of immunity

Rubella virus chronic inflammatory disease and other unusual viral phenotypes in inborn errors of immunity

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