Clinical and immunophenotypic features of atypical complete DiGeorge syndrome

Vu, Quang Van; Wada, Taizo; Toma, Tomoko; Tajima, Hanako; Maeda, Miho; Tanaka, Risa; Oh‐ishi, Tsutomu; Yachie, Akihiro

doi:10.1111/j.1442-200x.2012.03722.x

Cited by 23 publications

(18 citation statements)

References 24 publications

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“…In addition to the “classic” HIESs with a common clinical phenotype and interconnected molecular mechanisms, there are a number of primary immunodeficiency disorders with distinct clinical symptoms and laboratory findings that resemble HIES. Examples of these disorders include complete DiGeorge syndrome, Omenn syndrome, Wiskott–Aldrich syndrome and immune dysregulation, polyendocrinopathy, enteropathy, X‐linked (IPEX) . Primary skin disorders like Comel–Netherton syndrome and severe atopic dermatitis can also result in recurrent skin infections and elevated IgE levels, imitating their HIES counterparts …”

Section: Hies Impersonatorsmentioning

confidence: 99%

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Hyper IgE syndromes: clinical and molecular characteristics

2018

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Hyper IgE syndromes comprise a group of rare primary immunodeficiency disorders characterized by a triad of atopic dermatitis, recurrent skin and lung infections along with elevated IgE levels. Job syndrome or autosomal dominant hyper IgE syndrome because of heterozygous loss-of-function mutations with dominant negative effect in signal transducer and activator of transcription-3 is the prototype of these disorders. However, several other genetically characterized immunodeficiency disorders have been identified over the past decade and joined the umbrella of hyper IgE syndromes including autosomal recessive mutations in the DOCK8, ZNF431 and PGM3 genes and heterozygous mutations with dominant negative effect in the CARD11 gene. Moreover, a number of phenotypically distinct immunodeficiency disorders can mimic hyper IgE syndromes, adding to the diagnostic challenge. Herein, we will concisely review these disorders, their molecular bases, highlighting key distinguishing clinical and laboratory findings and therapeutic options.

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Section: Hies Impersonatorsmentioning

confidence: 99%

“…DiGeorge syndrome is caused by hemizygous 22q11 deletion, resulting in variable developmental defects affecting the thymus, heart and parathyroid glands. Athymic patients are classified as having complete DiGeorge syndrome and ~1/3 of those patients can present with an Omenn‐like phenotype …”

Section: Hies Impersonatorsmentioning

confidence: 99%

Hyper IgE syndromes: clinical and molecular characteristics

2018

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“…These have included include RAG1/2, Artemis, IL-7Rα, DNA ligase IV, RNA-processing endoribonuclease, ADA, and γc [85, 111]. Patients with atypical DiGeorge syndrome (due to a microdeletion at chromosome 22q11.2) may also present with a clinical phenotype that resembles Omenn syndrome [112–114]. …”

Section: Severe Combined Immunodeficiency and Related Disorders Assmentioning

confidence: 99%

Eosinophilia Associated with Disorders of Immune Deficiency or Immune Dysregulation

Williams

Milner

Freeman

2015

Immunology and Allergy Clinics of North America

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Synopsis Elevated serum eosinophil levels have been associated with multiple disorders of immune deficiency or immune dysregulation. Although primary immunodeficiency diseases (PIDD) are rare, it is important to consider these in the differential diagnosis of patients with eosinophilia. This review discusses the clinical features, laboratory findings, diagnosis, and genetic basis of disease of several disorders of immune deficiency or dysregulation – all which have documented eosinophilia as part of the syndrome. The article includes autosomal dominant hyper IgE syndrome, DOCK8 deficiency, PGM3 deficiency, ADA-SCID, Omenn syndrome, Wiskott-Aldrich syndrome, Loeys-Dietz syndrome, autoimmune lymphoproliferative syndrome, immunodysregulation, polyendocrinopathy, enteropathy, X-linked syndrome, Comel-Netherton syndrome, and severe dermatitis, multiple allergies, and metabolic wasting syndrome (SAM).

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“…Atypical complete DiGeorge syndrome (which occurs in <1% of those with DiGeorge syndrome) and Omenn syndrome are both characterized by lymphadenopathy, elevated IgE and a severe eczematous skin eruption [29–31]. These patients have very few recent thymic emigrants, consistent with the diagnosis of SCID or athymia; however, they develop an oligoclonal T-cell population with an activated phenotype that infiltrates the skin [29,31]. Omenn syndrome is frequently due to hypomorphic mutations in SCID-causing genes that result in a combination of immunodeficiency and autoimmunity [31].…”

Section: Introductionmentioning

confidence: 99%

Genetics of allergy and allergic sensitization: common variants, rare mutations

Bønnelykke

Sparks

Waage

et al. 2015

Current Opinion in Immunology

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Our understanding of the specific genetic lesions in allergy has improved in recent years due to identification of common risk variants from genome-wide association studies (GWAS) and studies of rare, monogenic diseases. Large-scale GWAS have identified novel susceptibility loci and provided information about shared genetics between allergy, related phenotypes and autoimmunity. Studies of monogenic diseases have elucidated critical cellular pathways and protein functions responsible for allergy. These complementary approaches imply genetic mechanisms involved in Th2 immunity, T-cell differentiation, TGFβ signaling, regulatory T-cell function and skin/mucosal function as well as yet unknown mechanisms associated with newly identified genes. Future studies, in combination with data on gene expression and epigenetics, are expected to increase our understanding of the pathogenesis of allergy.

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Clinical and immunophenotypic features of atypical complete DiGeorge syndrome

Abstract: The Omenn syndrome-like manifestations might be associated with the oligoclonal proliferation of activated T cells. Analysis of the immunophenotype and TCR Vβ repertoire is helpful to establish the early diagnosis of atypical complete DiGeorge syndrome.

Cited by 23 publications

References 24 publications

Hyper IgE syndromes: clinical and molecular characteristics

Hyper IgE syndromes: clinical and molecular characteristics

Eosinophilia Associated with Disorders of Immune Deficiency or Immune Dysregulation

Genetics of allergy and allergic sensitization: common variants, rare mutations

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