Do you know this syndrome?

Lima, Alexandre Moretti de; Sperandio, Vitor Arantes; Rocha, Sheila Pereira da; Ribeiro, Beatriz Medeiros de; Reis, Carmélia Matos Santiago

doi:10.1590/abd1806-4841.20132112

An. Bras. Dermatol.

2013

DOI: 10.1590/abd1806-4841.20132112

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Do you know this syndrome?

Alexandre Moretti de Lima

Vitor Arantes Sperandio

Sheila Pereira da Rocha³

et al.

Abstract: The hyperimmunoglobulin E syndrome, or Job's syndrome is a rare primary immunodeficiency characterized by recurrent skin abscesses, recurrent respiratory tract infections, and high levels of IgE, eosinophilia, bone and dental changes. We report the case of a fourteen-year-old male patient presenting this disease, with both typical and also some relatively sporadic manifestations. We performed a literature review on the syndrome and its associated clinical findings.

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Primary immunodeficiencies associated with eosinophilia

Navabi

Upton

2016

Allergy Asthma Clin Immunol

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BackgroundEosinophilia is not an uncommon clinical finding. However, diagnosis of its cause can be a dilemma once common culprits, namely infection, allergy and reactive causes are excluded. Primary immunodeficiency disorders (PID) are among known differentials of eosinophilia. However, the list of PIDs typically reported with eosinophilia is small and the literature lacks an inclusive list of PIDs which have been reported with eosinophilia. This motivated us to review the literature for all PIDs which have been described to have elevated eosinophils as this may contribute to an earlier diagnosis of PID and further the understanding of eosinophilia.MethodsA retrospective PubMed, and Google Scholar search using the terms “eosinophilia” and “every individual PID” as classified by Expert Committee of the International Union of Immunological Societies with the limit of the English language was performed. Results were assessed to capture case(s) which reported eosinophilia in the context of PID conditions. Absolute eosinophil counts (AEC) were retrieved from manuscripts whenever reported.ResultsIn addition to the typical PID conditions described with eosinophilia, we document that MHC class II deficiency, CD3γ deficiency, STAT1 deficiency (AD form), Kostmann disease, cyclic neutropenia, TCRα deficiency, Papillon-Lefevre syndrome, CD40 deficiency, CD40L deficiency, anhidrotic ectodermal dysplasia with immune deficiency, ataxia-telangiectasia, common variable immunodeficiency disorders (CVID), Blau syndrome, CARD9 deficiency, neonatal onset multisystem inflammatory disease or chronic infantile neurologic cutaneous and articular syndrome (NOMID/CINCA), chronic granulomatous disease, MALT1 deficiency and Roifman syndrome have been noted to have elevated eosinophils. Severe eosinophilia (>5.0 × 109/L) was reported in Omenn syndrome, Wiskott Aldrich syndrome, ADA deficiency, autoimmune lymphoproliferative syndrome, immunodysregulation polyendocrinopathy enteropathy X-linked, STAT3 deficiency, DOCK8 deficiency, CD40 deficiency, MHC II deficiency, Kostmann disease, Papillon-Lefevre syndrome, and CVID.ConclusionsThis literature review shows that there is an extensive list of PIDs which have been reported with eosinophilia. This list helps clinicians to consider an extended differential diagnoses when tasked with exclusion of PID as a cause for eosinophilia.Electronic supplementary materialThe online version of this article (doi:10.1186/s13223-016-0130-4) contains supplementary material, which is available to authorized users.

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Primary immunodeficiencies associated with eosinophilia

Navabi

Upton

2016

Allergy Asthma Clin Immunol

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Orthodontic management of delayed permanent tooth eruption and a case report of hyper-IgE syndrome

2017

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This article aims to look at the treatment and management of patients presenting with delayed tooth eruption of the permanent dentition. We describe the case of a 17-year-old girl who presented having been diagnosed with Hyper-IgE syndrome. The patient was positive for the STAT-3 gene and presented with a history of some classic Hyper-IgE features. There was a history of multiple skin abscesses and she was on long-term antibiotics. She presented in the mixed dentition with multiple retained deciduous teeth and a full complement of unerupted and fully formed permanent teeth. This article will describe features of this syndrome and discuss management strategies for patients presenting with delayed eruption. Clinical Relevance: This case study highlights the difficulties in managing patients who present with retained primary dentition at an older age. It also presents a rare case presentation of a patient with Hyper-IgE.

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Do you know this syndrome?

Cited by 2 publications

References 8 publications

Primary immunodeficiencies associated with eosinophilia

Primary immunodeficiencies associated with eosinophilia

Orthodontic management of delayed permanent tooth eruption and a case report of hyper-IgE syndrome

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