Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels

Sassi, Asma; Lazaroski, Sandra; Wu, Gang; Haslam, Stuart M.; Fliegauf, Manfred; Mellouli, Fethi; Patıroğlu, Türkan; Ünal, Ekrem; Özdemır, Mehmet Akif; Jouhadi, Z.; Khadir, K.; Ben-Khemis, Leila; Ben-Ali, Meriem; Ben‐Mustapha, Imen; Borchani, Lamia; Pfeifer, Dietmar; Jakob, Thilo; Khémiri, M.; Asplund, Anna; Gustafsson, Manuela O.; Lundin, Karin E.; Falk-Sörqvist, Elin; Moens, Lotte; Gungor, Hatice; Engelhardt, Karin R.; Dziadzio, Magdalena; Stauss, Hans J.; Fleckenstein, Bernhard; Meier, Rebecca; Prayitno, Khairunnadiya; Maul-Pavicic, Andrea; Schaffer, Sandra; Rakhmanov, Mirzokhid; Henneke, Philipp; Kraus, Herbert; Eibel, Hermann; Kölsch, Uwe; Nadifi, Sellama; Nilsson, Mats; Béjaoui, Mohamed; Schäffer, Alejandro A.; Smith, C. I. Edvard; Dell, Anne; Barbouche, Mohamed‐Ridha; Grimbacher, Bodo

doi:10.1016/j.jaci.2014.02.025

Cited by 166 publications

(201 citation statements)

References 52 publications

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“…In addition to the human IPEX syndrome, dysregulated Th2 responses, atopy, and elevated IgE levels occur in a range of primary human immunodeficiencies, some of which are phenocopied in the corresponding mouse models (13)(14)(15)(16)(17)(18). The variety of genes that are affected in these disorders -e.g., STAT3, DOCK8, PGM3 and multiple genes involved in TCR signaling such as LAT, ZAP70, or RAG -suggests that hyper IgE phenotypes can result from alterations in a number of distinct immunological pathways.…”

Section: Sensitization To Food Antigens and Food Allergy Are Enrichedmentioning

confidence: 99%

FOXP3+ Tregs require WASP to restrain Th2-mediated food allergy

Lexmond¹,

Goettel²,

Lyons³

et al. 2016

Journal of Clinical Investigation

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Section: Sensitization To Food Antigens and Food Allergy Are Enrichedmentioning

confidence: 99%

FOXP3+ Tregs require WASP to restrain Th2-mediated food allergy

Lexmond¹,

Goettel²,

Lyons³

et al. 2016

Journal of Clinical Investigation

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“…However, null mutations in DOCK8 are responsible for most cases, and to date only two patients with TYK2 deficiency have been identified [7,55,56]. In addition, very recent reports have added mutations in the gene PGM3 to the list of genetic etiologies of AR-HIES [8,9]. In comparison with AD-HIES, notable differences exist, even within the group of AR-HIES.…”

Section: Ar-hiesmentioning

confidence: 99%

“…Most recently, a novel PID was described with homozygous PGM3 mutations causing impaired immunity, increased IgE levels, atopy, autoimmunity and neurocognitive impairment [8,9]. The nine patients from four families of Tunesian, Turkish or Moroccan descent described in one of the articles experienced recurrent pneumonias, staphylococcal skin abscesses and highly increased IgE levels [9].…”

Section: Clinical Phenotype Of Ar-hies/pgm3 Deficiencymentioning

confidence: 99%

“…Already in 2006, a homozygous mutation in Tyrosine kinase (TYK)2 was described, and subsequently impaired function of dedicator of cytokinesis (DOCK)8 and another patient with TYK2 deficiency have been implicated in HIES with autosomal recessive inheritance [4][5][6][7]. In addition, very recent reports have added mutations in the gene encoding phosphoglucomutase (PGM)3 to the list of genetic etiologies of AD-HIES [8,9]. These important advances gained during the past few years in our understanding of the genetic and molecular basis for the immunodeficiency and infectious susceptibility observed in these patients are described in the following sections.…”

Section: Introductionmentioning

confidence: 99%

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Primary Immunodeficiencies with Elevated IgE

Mogensen¹

2015

International Reviews of Immunology

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In recent years a number of primary immunodeficiencies (PIDs) characterized by elevated Immunoglobulin E (IgE) levels have been uncovered and termed as Hyper-IgE syndrome (HIES). In addition to the elevated levels of IgE, patients with these PIDs display a spectrum of infections by staphylococci and fungi, and in some cases viruses, particularly affecting skin and lungs. Most of these PIDs also have a non-infectious phenotype, comprising musculoskeletal, vascular, and neurological abnormalities. The genetic basis for the majority of conditions with elevated IgE has now been established and includes mutations in STAT3, DOCK8, TYK2, and most recently PGM3 molecules. However, in some patients with the relevant phenotype, mutations in these molecules are not identified, suggesting additional genetic etiologies of HIES not yet discovered. As the immunological and molecular basis of HIES is being unraveled, important insights are emerging that may have implications for our understanding of basic principles of immunology and protective immunity as well as for the pathogenesis and clinical management of patients with these complex and challenging PIDs. In this review, are presented the current knowledge on the clinical presentation, infectious phenotype, and the genetic and immunological pathogenesis of hyper-IgE syndromes as well as some other PIDs with elevated levels of IgE.

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“…Los pacientes con fenotipo similar al síndrome hiper-IgE muestran atopia, elevación de IgE, alteraciones neurológicas y del desarrollo. 44,45 …”

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Síndrome hiper-IgE. Lecciones de la función y defectos de STAT-3 o DOCK-8

Alcántara-Montiel

Vega-Torres

2016

RAM

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Este artículo debe citarse como: Alcántara-Montiel JC, Vega-Torres BI. Síndrome hiper-IgE. Lecciones de la función y defectos de STAT-3 o DOCK-8. Rev Alerg Mex. 2016;63(4):385-396 AbstractIn the classification of primary immunodeficiencies, hyper-IgE syndrome, identified with OMIM code # 147060 in the Online Mendelian Inheritance in Man catalog, belongs to the group of syndromes associated with combined immunodeficiencies. It is characterized by elevated levels of IgE, eosinophilia, recurrent skin abscesses, pneumonia, lung parenchyma lesions, recurrent infections, rashes in newborns, eczema, sinusitis, otitis, and mucocutaneous candidiasis. Hyper-IgE syndrome can be transmitted by autosomal dominant or autosomal recessive modes of inheritance. Hyper-IgE syndrome in its dominant form includes non-immunological manifestations like characteristic facies, pathological dentition, scoliosis, bone disorders, and joint hyperextensibility. The reported cause of the dominant form is the loss of function of the signal transducer and activator of transcription 3 (STAT-3, with MIM # 102582). Mutations in dedicator of cytokines 8 (DOCK-8) is the most common cause of the autosomal recessive form of hyper-IgE syndrome.

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Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels

Cited by 166 publications

References 52 publications

FOXP3+ Tregs require WASP to restrain Th2-mediated food allergy

FOXP3+ Tregs require WASP to restrain Th2-mediated food allergy

Primary Immunodeficiencies with Elevated IgE

Síndrome hiper-IgE. Lecciones de la función y defectos de STAT-3 o DOCK-8

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