STK4 deficiency and EBV-associated lymphoproliferative disorders, emphasis on histomorphology, and review of literature

Saglam, Arzu; Çağdaş, Deniz; Aydın, Burça; Keleş, Sevgi; Reisli, İsmail; Arslankoz, Sehbal; Katipoglu, Kubra; Üner, Ayşegül

doi:10.1007/s00428-021-03147-w

Cited by 5 publications

(5 citation statements)

References 21 publications

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“…Patients presented within two years of life with recurrent infections caused by Streptococcus pneumoniae and Hemophilus influenzae which led to bronchiectasis, Varicella zoster virus infections, widespread molluscum contagiosum and persistent Epsein Barr virus infections [ 45 , 46 ]. EBV associated lymphoproliferative disorder has also been described in this deficiency [ 140 ].…”

Section: Combined Immunodeficiency (Cid) Generally Less Profound Than...mentioning

confidence: 99%

Infections in Inborn Errors of Immunity with Combined Immune Deficiency: A Review

George

Govindaraj

2023

Pathogens

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Enhanced susceptibility to microbes, often resulting in severe, intractable and frequent infections due to usually innocuous organisms at uncommon sites, is the most striking feature in individuals with an inborn error of immunity. In this narrative review, based on the International Union of Immunological Societies’ 2022 (IUIS 2022) Update on phenotypic classification of human inborn errors of immunity, the focus is on commonly encountered Combined Immunodeficiency Disorders (CIDs) with susceptibility to infections. Combined immune deficiency disorders are usually commensurate with survival beyond infancy unlike Severe Combined Immune Deficiency (SCID) and are often associated with clinical features of a syndromic nature. Defective humoral and cellular immune responses result in susceptibility to a broad range of microbial infections. Although disease onset is usually in early childhood, mild defects may present in late childhood or even in adulthood. A precise diagnosis is imperative not only for determining management strategies, but also for providing accurate genetic counseling, including prenatal diagnosis, and also in deciding empiric treatment of infections upfront before investigation reports are available.

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Section: Combined Immunodeficiency (Cid) Generally Less Profound Than...mentioning

confidence: 99%

Infections in Inborn Errors of Immunity with Combined Immune Deficiency: A Review

George

Govindaraj

2023

Pathogens

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“…232 This autosomal recessive disorder is characterized by early-onset recurrent bacterial and viral infections, including lymphoproliferation and lymphoma induced by EBV. [233][234][235] Patients with STK4 deficiency typically exhibit lymphopenia in CD4…”

Section: Stk4 Deficiencymentioning

confidence: 99%

“…Serine/threonine kinase 4 ( STK4 ) deficiency (previously called MST1) is a relatively novel IEI in humans, with the first reported patients documented in 2012 232 . This autosomal recessive disorder is characterized by early‐onset recurrent bacterial and viral infections, including lymphoproliferation and lymphoma induced by EBV 233–235 . Patients with STK4 deficiency typically exhibit lymphopenia in CD4 T cells, CD8 T cells, and B cells.…”

Section: Augmented Induction Of Malignancymentioning

confidence: 99%

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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“…In hyper IgM syndrome (HIGM) with CD40LG/CD40 mutations, the defective antibody response to antigens results in the malignant transformation of B-cells ( 10 ). Serine/threonine-protein kinase 4 (STK4) deficiency, has been associated with nodal and extra-nodal EBV+ LP and B-cell lymphoma suggesting the role of EBV infection in inducing LP ( 11 ). Inducible tyrosine kinase (ITK) deficiency is associated with progressive CD4+T-cell and NKT-cell lymphopenia, and hypogammaglobulinemia resulting in EBV viremia and immune dysregulation leading to massive LP ( 12 ).…”

Section: Pathophysiology and Histopathological Alterationsmentioning

confidence: 99%

“…In HIGM, the absence of germinal centers in lymph nodes and a massive extranodal accumulation of plasma cells that secrete IgM, particularly in GIT, to T-LGLL, HL, and EBV+B-NHL have been reported ( 1 ). STK4-deficiency is associated with plasma cell hyperplasia and EBV+ B-cell polymorphous LP, and B-cell lymphomas showing plasmacytic differentiation ( 11 ). ITK deficiency is chiefly associated with EBV+B-LPD, especially HL ( 12 )…”

Section: Pathophysiology and Histopathological Alterationsmentioning

confidence: 99%

Lymphoproliferation in Inborn Errors of Immunity: The Eye Does Not See What the Mind Does Not Know

et al. 2022

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Inborn errors of immunity (IEIs) are a group of heterogeneous disorders characterized by a broad clinical spectrum of recurrent infections and immune dysregulation including autoimmunity and lymphoproliferation (LP). LP in the context of IEI may be the presenting feature of underlying immune disorder or may develop during the disease course. However, the correct diagnosis of LP in IEI as benign or malignant often poses a diagnostic dilemma due to the non-specific clinical features and overlapping morphological and immunophenotypic features which make it difficult to treat. There are morphological clues to LP associated with certain IEIs. A combination of ancillary techniques including EBV-associated markers, flow cytometry, and molecular assays may prove useful in establishing a correct diagnosis in an appropriate clinical setting. The present review attempts to provide comprehensive insight into benign and malignant LP, especially the pathogenesis, histological clues, diagnostic strategies, and treatment options in patients with IEIs.

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STK4 deficiency and EBV-associated lymphoproliferative disorders, emphasis on histomorphology, and review of literature

Cited by 5 publications

References 21 publications

Infections in Inborn Errors of Immunity with Combined Immune Deficiency: A Review

Infections in Inborn Errors of Immunity with Combined Immune Deficiency: A Review

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

Lymphoproliferation in Inborn Errors of Immunity: The Eye Does Not See What the Mind Does Not Know

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