Diffuse large B-cell lymphoma in a patient with hyper-IgE syndrome: Successful treatment with risk-adapted rituximab-based immunochemotherapy

Belada, David; Smolej, Lukáš; Štěpánková, Pavla; Králíčková, P; Freiberger, Tomáš

doi:10.1016/j.leukres.2010.01.024

Cited by 11 publications

(7 citation statements)

References 15 publications

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“…Mutations in STAT3 are a hallmark of Hyper‐IgE‐syndrome (HIES), a complex primary immunodeficiency (Minegishi & Karasuyama, 2009) and several case reports also suggest an increased risk for certain lymphoma types and HL among HIES patients (Kashef et al , 2006; Wallet et al , 2007; Minegishi, 2009; Belada et al , 2010). This adds to the eminent role of STAT3 in immune response and the remarkable impact of its dysfunction in the aetiology of various immune diseases.…”

Section: Discussionmentioning

confidence: 99%

Association of JAK‐STAT pathway related genes with lymphoma risk: results of a European case–control study (EpiLymph)

et al. 2011

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Summary Previous studies have suggested an important role for the Janus kinase‐signal transducer and activator of transcription (JAK‐STAT) signalling pathway in tumour development. Therefore, we explored genetic variants in JAK‐STAT pathway associated genes with lymphoma risk. In samples of the EpiLymph case–control study we genotyped 1536 single nucleotide polymorphisms (SNPs) using GoldenGate BeadArray™ Technology (Illumina, San Diego, CA, USA). Here, we report the associations between selected SNPs and haplotypes of the JAK‐STAT pathway and risk of Hodgkin lymphoma (HL), B‐cell non‐Hodgkin lymphoma (B‐NHL) and most frequent B‐NHL subtypes. Among 210 relevant JAK‐STAT pathway‐related SNPs, polymorphisms in nine genes (BMF, IFNG, IL12A, SOCS1, STAT1, STAT3, STAT5A, STAT6, TP63) were significantly associated with lymphoma risk. At a study‐wise significance level, we obtained a risk reduction of 28% among carriers of the heterozygous genotype of the STAT3 variant (rs1053023) for B‐NHL. For six other variants within the STAT3 gene we observed an inverse association with different lymphoma subtypes. A reduced risk for HL was observed for the heterozygous genotype of the STAT6 SNP (rs324011). This is an explorative investigation to examine associations between JAK‐STAT signalling related genes and lymphoma risk. The results implicate a relevant role of certain pathway‐related genes in lymphomagenesis, but still need to be approved by independent studies.

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Section: Discussionmentioning

confidence: 99%

Association of JAK‐STAT pathway related genes with lymphoma risk: results of a European case–control study (EpiLymph)

et al. 2011

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“…There are scarce reports of improvement of clinical and laboratory indicators with administration of IFN-g. 218,258,260 However, evidence is not sufficient to consider this to be standard therapy for HIES. There are isolated case reports with rituximab (for lymphoma) 281 or omalizumab (for dermatitis) 282,283 in patients with HIES.…”

Section: Combined B-and T-cell Immunodeficienciesmentioning

confidence: 99%

Practice parameter for the diagnosis and management of primary immunodeficiency

Bernstein¹,

Blessing-Moore²,

Khan³

et al. 2015

Journal of Allergy and Clinical Immunology

572

494

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The American Academy of Allergy, Asthma & Immunology (AAAAI) and the American College of Allergy, Asthma & Immunology (ACAAI) have jointly accepted responsibility for establishing the "Practice parameter for the diagnosis and management of primary immunodeficiency." This is a complete and comprehensive document at the current time. The medical environment is a changing environment, and not all recommendations will be appropriate for all patients. Because this document incorporated the efforts of many participants, no single individual, including those who served on the Joint Task Force, is authorized to provide an official AAAAI or ACAAI interpretation of these practice parameters. Any request for information about or an interpretation of these practice parameters by the AAAAI or ACAAI should be directed to the Executive Offices of the AAAAI, the ACAAI, and the Joint Council of Allergy, Asthma & Immunology. These parameters are not designed for use by pharmaceutical companies in drug promotion.

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“…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 Causal mutations in signal transducer and activator of transcription 3 (STAT3) have been found in AD-HIES.…”

Section: Hyper Ige Syndromementioning

confidence: 99%

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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Diffuse large B-cell lymphoma in a patient with hyper-IgE syndrome: Successful treatment with risk-adapted rituximab-based immunochemotherapy

Cited by 11 publications

References 15 publications

Association of JAK‐STAT pathway related genes with lymphoma risk: results of a European case–control study (EpiLymph)

Association of JAK‐STAT pathway related genes with lymphoma risk: results of a European case–control study (EpiLymph)

Practice parameter for the diagnosis and management of primary immunodeficiency

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

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