Primary Immunodeficiency and Cancer in Children; A Review of the Literature

Kebudi, Rejin; Kıykım, Ayça; Şahın, Musa

doi:10.2174/1573396315666190917154058

Cited by 47 publications

(39 citation statements)

References 52 publications

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“…Some IEIs result from genomic instability, apoptosis defects, and other abnormalities that predispose to cancer, without necessarily interfering with immune responses (111). However, other PIDs have an increased risk of cancers due to inadequate control by the immune system of oncogenic viruses such as human papillomaviruses (HPVs), human herpes virus 8, and Epstein-Barr virus (EBV).…”

Section: Iei With Increased Susceptibility To Epstein-barr Virus Infection and Malignanciesmentioning

confidence: 99%

Human inborn errors of immunity: An expanding universe

et al. 2020

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Molecular, cellular, and clinical studies of human inborn errors of immunity have revolutionized our understanding of their pathogenesis, considerably broadened their spectrum of immunological and clinical phenotypes, and enabled successful targeted therapeutic interventions. These studies have also been of great scientific merit, challenging a number of immunological notions initially established in inbred mice while revealing previously unrecognized mechanisms of host defense by leukocytes and other cells and of both innate and adaptive tolerance to self.

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Section: Iei With Increased Susceptibility To Epstein-barr Virus Infection and Malignanciesmentioning

confidence: 99%

Human inborn errors of immunity: An expanding universe

et al. 2020

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“…Malignancy is the second most prevalent cause of mortality in patients with IEI, after infection (29). The lifetime risk of cancer in children with IEI is estimated to be 5-25% (30,31), and the relative risk of cancer in patients with IEI is 1.4 to 1.6 times greater than that in the general population (32,33). It has been reported that genomic instability due to defective DNA repair processes, lack of control of chronic inflammation, susceptibility to oncogenic viruses (such as human papillomavirus or Epstein-Barr virus) and other unknown mechanisms increase the risk of malignancies (29,34,35).…”

Section: Discussionmentioning

confidence: 99%

Needs for Increased Awareness of Gastrointestinal Manifestations in Patients With Human Inborn Errors of Immunity

Kim

Yoon

et al. 2021

Front. Immunol.

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The gastrointestinal (GI) tract is frequently affected by inborn errors of immunity (IEI), and GI manifestations can be present in IEI patients before a diagnosis is confirmed. We aimed to investigate clinical features, endoscopic and histopathologic findings in IEI patients. This was a retrospective cohort study conducted from 1995 to 2020. Eligible patients were diagnosed with IEI and had GI manifestations that were enough to require endoscopies. IEI was classified according to the International Union of Immunological Societies classification. Of 165 patients with IEI, 55 (33.3%) had GI manifestations, and 19 (11.5%) underwent endoscopy. Among those 19 patients, nine (47.4%) initially presented with GI manifestations. Thirteen patients (68.4%) were male, and the mean age of patients 11.5 ± 7.9 years (range, 0.6 – 26.6) when they were consulted and evaluated with endoscopy. The most common type of IEI with severe GI symptoms was “Disease of immune dysregulation” (31.6%) followed by “Phagocyte defects” (26.3%), according to the International Union of Immunological Societies classification criteria. Patients had variable GI symptoms such as chronic diarrhea (68.4%), hematochezia (36.8%), abdominal pain (31.6%), perianal disease (10.5%), and recurrent oral ulcers (10.5%). During the follow-up period, three patients developed GI tract neoplasms (early gastric carcinoma, mucosa associated lymphoid tissue lymphoma of colon, and colonic tubular adenoma, 15.8%), and 12 patients (63.2%) were diagnosed with inflammatory bowel disease (IBD)-like colitis. Investigating immunodeficiency in patients with atypical GI symptoms can provide an opportunity for correct diagnosis and appropriate disease-specific therapy. Gastroenterologists and immunologists should consider endoscopy when atypical GI manifestations appear in IEI patients to determine if IBD-like colitis or neoplasms including premalignant and malignant lesions have developed. Also, if physicians in various fields are better educated about IEI-specific complications, early diagnosis and disease-specific treatment for IEI will be made possible.

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“…Disturbances of host immunity can tilt this balance to favor the virus, allowing its full oncogenic potential. Besides the persistent inflammatory environment caused by EBV viremia and the expression of oncogenic EBV proteins and nucleic acids, there is an inability to kill transformed cells due to defects in cytotoxicity in certain IEI [ 36 ]. In the IEI discussed below, the mechanisms involved in the immunity against EBV are dysfunctional leading to immune dysregulation and malignancies.…”

Section: Inborn Errors Of Immunity (Iei)mentioning

confidence: 99%

Epstein–Barr Virus in Inborn Immunodeficiency—More Than Infection

Lino

Ghosh

2021

Cancers

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Epstein–Barr Virus (EBV) is a ubiquitous virus affecting more than 90% of the world’s population. Upon infection, it establishes latency in B cells. It is a rather benign virus for immune-competent individuals, in whom infections usually go unnoticed. Nevertheless, EBV has been extensively associated with tumorigenesis. Patients suffering from certain inborn errors of immunity are at high risk of developing malignancies, while infection in the majority of immune-competent individuals does not seem to lead to immune dysregulation. Herein, we discuss how inborn mutations in TNFRSF9, CD27, CD70, CORO1A, CTPS1, ITK, MAGT1, RASGRP1, STK4, CARMIL2, SH2D1A, and XIAP affect the development, differentiation, and function of key factors involved in the immunity against EBV, leading to increased susceptibility to lymphoproliferative disease and lymphoma.

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Primary Immunodeficiency and Cancer in Children; A Review of the Literature

Cited by 47 publications

References 52 publications

Human inborn errors of immunity: An expanding universe

Human inborn errors of immunity: An expanding universe

Needs for Increased Awareness of Gastrointestinal Manifestations in Patients With Human Inborn Errors of Immunity

Epstein–Barr Virus in Inborn Immunodeficiency—More Than Infection

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