Hypogammaglobulinemias in infants and toddlers with mastocytosis – a new aspect to analyze?

Renke, Joanna; Lange, Magdalena; Dawicka, Joanna; Adamkiewicz-Drożyńska, Elżbieta

doi:10.1111/pai.12538

Cited by 5 publications

(3 citation statements)

References 10 publications

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“…Moreover, these results may be compatible with an earlier observation of unexplained higher transient hypogammaglobulinemia incidence reported in another group of our pediatric patients with CM [31, 32]. It should be mentioned here that our unpublished data reveal lower medians of IL-2 and IL-6 levels, measured with the ELISA method, in adult mastocytosis patients ( n = 122) than in the control group ( n = 47; IL-2, 3.7 vs. 8.54; IL-6, 1.29 vs. 3.8), and higher medians of IL-4 and IL-10 levels in the same groups (IL-4, 2.76 vs. 0.31; IL-10, 1.02 vs. 0.11).…”

Section: Discussionsupporting

confidence: 81%

The Possible Role of Gene Variant Coding Nonfunctional Toll-Like Receptor 2 in the Pathogenesis of Mastocytosis

Nedoszytko

Lange

Renke

et al. 2018

Int Arch Allergy Immunol

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Background: Data on the genetic predisposition to mastocytosis are scarce. The aim of this work was to study the association of single nucleotide polymorphisms of Toll-like receptor (TLR)-2, TLR-4, and TLR-9 genes in Polish patients with mastocytosis. Objectives: The study comprised 137 patients with mastocytosis (102 cutaneous [60 children and 42 adults] and 35 systemic cases); 171 disease-free individuals were used as controls. Method: The frequency of polymorphisms R753Q (rs5743708) of TLR-2, 896 A>G (rs496790) of TLR-4, and –1237C>T (rs5743836) of TLR-9 genes were determined with the use of the amplification refractory mutation system polymerase chain reaction method. Results: It was found that the R753Q TLR-2 gene polymorphism was significantly more frequent in patients with mastocytosis in comparison to healthy controls (p = 0.037) and in the group of SM versus controls (p = 0.0076). The presence in the genotype 753Q variant of TLR-2 gene increased the risk of mastocytosis more than 2-fold (OR 2.51; p = 0.04), and the risk of SM more than 4-fold (OR 4.22; p = 0.01). TLR-4 and TLR-9 polymorphisms were not associated with mastocytosis. Conclusions: Our results suggest that the R753Q polymorphism of the TLR-2 gene may be involved in the pathogenesis of mastocytosis.

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Section: Discussionsupporting

confidence: 81%

The Possible Role of Gene Variant Coding Nonfunctional Toll-Like Receptor 2 in the Pathogenesis of Mastocytosis

Nedoszytko

Lange

Renke

et al. 2018

Int Arch Allergy Immunol

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“…There are publications reporting transient hypogammaglobulinemia in infants with a frequency of 16% to 18% since the age of the first diagnosis of patients with CM is generally less than 2 years old. 6,17,25 Similarly, Ertugrul et al 17 reported hypogammaglobulinemia (18.8%), isolated IgM deficiency (3%), and transient hypogammaglobulinemia of infancy (3%) in their study with CM patients. The incidence of different types of gammaglobulinemia in our group seems to be more frequent than in comparison with the general pediatric population.…”

Section: Discussionmentioning

confidence: 85%

“…Although screening of Ig levels was not recommended in the follow-up of patients with CM, we analyzed Ig levels in 11 (24%) patients, and we found 3 patients had IgA deficiency and 1 patient had persistent high IgE levels. There are publications reporting transient hypogammaglobulinemia in infants with a frequency of 16% to 18% since the age of the first diagnosis of patients with CM is generally less than 2 years old 6,17,25. Similarly, Ertugrul et al17 reported hypogammaglobulinemia (18.8%), isolated IgM deficiency (3%), and transient hypogammaglobulinemia of infancy (3%) in their study with CM patients.…”

Section: Discussionmentioning

confidence: 87%

Clinical and Demographic Characteristics of Cutaneous Mastocytosis in Childhood: Single-center Experience

Erdem

Özyörük

Emir

et al. 2021

Journal of Pediatric Hematology/Oncology

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Introduction: Mastocytosis is a rare and heterogenous disease, and in children it is generally limited to the skin and tends to regress spontaneously in adolescence. Aim: In this study, demographic, clinical, and laboratory characteristics of pediatric patients with mastocytosis, and also coexisting diseases were investigated. Results: A total of 61 pediatric patients were included in the study. The male-to-female ratio was 2.2, the median age was 2 years (range, 0.25 to 19 y), and the median follow-up period was 2.0 years (range, 0.25 to 19 y). Types of clinical presentation at diagnosis consisted of mainly urticaria pigmentosa (45.9%). Seven patients were further investigated with suspicion of systemic mastocytosis, they were followed up, median of 9 years (range, 2.5 to 16 y), and none of them developed systemic disease. Coexisting allergic diseases were recorded in total 5 patients (8.2%). Three patients had immunoglobulin A deficiency, 1 patient had elevated immunoglobulin E level. A patient developed mature B-cell lymphoma with a heterozygous mutation in c-KIT exon 11. Discussion: Cutaneous mastocytosis in children may present as a complex disease with different clinical signs and symptoms. Standardized clinical criteria and guidelines for the follow-up of children with mastocytosis are required.

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Pediatric Mastocytosis: Recognition and Management

Schaffer

2021

Am J Clin Dermatol

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Hypogammaglobulinemias in infants and toddlers with mastocytosis – a new aspect to analyze?

Cited by 5 publications

References 10 publications

The Possible Role of Gene Variant Coding Nonfunctional Toll-Like Receptor 2 in the Pathogenesis of Mastocytosis

The Possible Role of Gene Variant Coding Nonfunctional Toll-Like Receptor 2 in the Pathogenesis of Mastocytosis

Clinical and Demographic Characteristics of Cutaneous Mastocytosis in Childhood: Single-center Experience

Pediatric Mastocytosis: Recognition and Management

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