The Role of TRAF4 and B3GAT1 Gene Expression in the Food Hypersensitivity and Insect Venom Allergy in Mastocytosis

Górska, Aleksandra; Gruchała‐Niedoszytko, Marta; Niedoszytko, Marek; Maciejewska, Agnieszka; Chełmińska, Marta; Skrzypski, Marcin; Wasąg, Bartosz; Kaczkan, Małgorzata; Lange, Magdalena; Nedoszytko, Bogusław; Pawłowski, Ryszard; Małgorzewicz, Sylwia; Jassem, Ewa

doi:10.1007/s00005-016-0397-7

Cited by 13 publications

(6 citation statements)

References 29 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Furthermore, allergies to insect venom are associated with the expression of B3GAT1 gene (that encodes the enzyme 3-beta-glucuronosyltransferase 1, and its enzymatic activity creates the CD57 epitope on other cell surface proteins). An important fact is that sometimes (25% of pediatric patients with UP), CM in children is associated with D816V [ 19 , 20 , 21 ]. The mechanism of action is based on the activation of tyrosine kinase, which leads to cell proliferation [ 20 ].…”

Section: Main Features Of CM In Childhoodmentioning

confidence: 99%

Cutaneous Mastocytosis in Childhood—Update from the Literature

Şandru

Petca

Costescu

et al. 2021

JCM

View full text Add to dashboard Cite

Mastocytosis (M) represents a systemic pathology characterized by increased accumulation and clonal proliferation of mast cells in the skin and/or different organs. Broadly, M is classified into two categories: Cutaneous mastocytosis (CM) and systemic mastocytosis (SM). In children, CM is the most frequent form. Unfortunately, pathogenesis is still unclear. It is thought that genetic factors are involved, but further studies are necessary. As for features of CM, the lesions differ in clinical forms. The most important fact is evaluating a pediatric patient with CM. It must comprise laboratory exams (with baseline dosing of total serum tryptase), a skin biopsy (with a pathological exam and, if the diagnosis is unclear, immunohistochemical tests), and a complete clinical evaluation. It is also defining to distinguish between CM and other diseases with cutaneous involvement. As for the management of CM in children, the first intervention implies eliminating trigger factors. The available cures are oral H1 and/or H2 antihistamines, oral cromolyn sodium, oral methoxypsoralen therapy with long-wave psoralen plus ultraviolet A radiation, potent dermatocorticoid, and calcineurin inhibitors. In children, the prognosis of CM is excellent, especially if the disease’s onset is in the first or second years of life.

show abstract

Section: Main Features Of CM In Childhoodmentioning

confidence: 99%

Cutaneous Mastocytosis in Childhood—Update from the Literature

Şandru

Petca

Costescu

et al. 2021

JCM

View full text Add to dashboard Cite

show abstract

“…There may be also other predisposing genetic variables and constellations that might play a role in the manifestation of anaphylaxis, MCA, and MCAS in patients with SM [ 78 , 79 ]. A general atopic predisposition as well as epigenetic changes may also contribute to the development and severity of MCA and MCAS in these cases.…”

Section: Predisposing Genetic Variants and Patterns And Clonal Diseas...mentioning

confidence: 99%

Mast Cell Activation Syndromes: Collegium Internationale Allergologicum Update 2022

Valent¹,

Hartmann²,

Bonadonna³

et al. 2022

Int Arch Allergy Immunol

Self Cite

View full text Add to dashboard Cite

Mast cell activation syndromes (MCASs) are defined by systemic severe and recurrent mast cell activation, usually in form of anaphylaxis, a substantial, event-related increase of the serum tryptase level beyond the individual’s baseline and a response of the symptomatology to drugs directed against mast cells, mast cell-derived mediators, or mediator effects. A number of predisposing genetic conditions, underlying allergic and other hypersensitivity states, and related comorbidities can contribute to the clinical manifestation of MCASs. These conditions include hereditary alpha tryptasemia, mastocytosis with an expansion of clonal <i>KIT</i>-mutated mast cells, atopic diathesis, and overt IgE-dependent and IgE-independent allergies. Several of these conditions have overlapping definitions and diagnostic criteria and may also develop concomitantly in the same patient. However, although criteria and clinical features overlap, each of these conditions is characterized by a unique constellation of variables and diagnostic criteria. Since two, three, or more conditions can coexist in the same patient, with obvious clinical implications, it is of crucial importance to diagnose the variant of MCAS precisely and to take all accompanying, underlying and potentially complicating conditions, and comorbidities into account when establishing the management plan. Indeed, most of these patients require multidisciplinary investigations and only a personalized treatment approach can lead to an optimal management plan providing an optimal quality of life and low risk of anaphylaxis.

show abstract

“…Finally, in a study by Górska et al [ 66 ] of gene expression in mastocytosis patients, increased expression of TRAF4 mRNA was associated with food hypersensitivity and decreased expression of B3GAT1 mRNA was associated with insect venom allergy.…”

Section: Mrna Expression Studies In Patients With Mastocytosismentioning

confidence: 99%

Clinical Impact of Inherited and Acquired Genetic Variants in Mastocytosis

Nedoszytko

Arock

Lyons

et al. 2021

IJMS

Self Cite

View full text Add to dashboard Cite

Mastocytosis is a rare and complex disease characterized by expansion of clonal mast cells (MC) in skin and/or various internal organ systems. Involvement of internal organs leads to the diagnosis of systemic mastocytosis (SM). The WHO classification divides SM into indolent SM, smoldering SM and advanced SM variants, including SM with an associated hematologic neoplasm, aggressive SM, and MC leukemia. Historically, genetic analysis of individuals with pure cutaneous mastocytosis (CM) and SM have focused primarily on cohort studies of inherited single nucleotide variants and acquired pathogenic variants. The most prevalent pathogenic variant (mutation) in patients with SM is KIT p.D816V, which is detectable in most adult patients. Other somatic mutations have also been identified—especially in advanced SM—in TET2, SRSF2, ASXL1, RUNX1, CBL and JAK2, and shown to impact clinical and cellular phenotypes. Although only small patient cohorts have been analyzed, disease associations have also been identified in several germline variants within genes encoding certain cytokines or their receptors (IL13, IL6, IL6R, IL31, IL4R) and toll-like receptors. More recently, an increased prevalence of hereditary alpha-tryptasemia (HαT) caused by increased TPSAB1 copy number encoding alpha-tryptase has been described in patients with SM. Whereas HαT is found in 3–6% of general Western populations, it is identified in up to 17% of patients with SM. In the current manuscript we review the prevalence, functional role and clinical impact of various germline and somatic genetic variants in patients with mastocytosis.

show abstract

The Role of TRAF4 and B3GAT1 Gene Expression in the Food Hypersensitivity and Insect Venom Allergy in Mastocytosis

Cited by 13 publications

References 29 publications

Cutaneous Mastocytosis in Childhood—Update from the Literature

Cutaneous Mastocytosis in Childhood—Update from the Literature

Mast Cell Activation Syndromes: Collegium Internationale Allergologicum Update 2022

Clinical Impact of Inherited and Acquired Genetic Variants in Mastocytosis

Contact Info

Product

Resources

About