Atopic Dermatitis and Allergic Urticaria

Gaudinski, Martin R.; Milner, Joshua D.

doi:10.1016/j.iac.2016.08.016

Cited by 14 publications

(22 citation statements)

References 39 publications

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“… 6 , 7 , 8 Moreover, asthma can provide clues to the diagnosis of cartilage‐hair hypoplasia (CHH), CVID, SIgAD, DOCK8 deficiency, and selective IgM deficiency (SIgMD). 9 , 10 , 11 , 12 , 13 Chronic cough and pleurisy are noticed in CVID, X‐linked agammaglobulinemia (XLA), and SIgAD. 14…”

Section: Respiratorymentioning

confidence: 99%

“…Bronchiectasis is noticed in primary antibody deficiency (PAD), CVID, IgG subclass deficiency (Ig GSD), defects of antigen presentation, chronic granulomatous disease (CGD), cystic fibrosis (CF), primary ciliary dyskinesia (PCD), Bloom syndrome, Phosphoglucomutase‐3 (PGM3) deficiency, CHH, or Hyper‐IgE syndrome (HIES). 9 , 11 , 15 , 16 , 17 , 18 , 19 , 20 , 21 Bronchitis is reported in CVID, XLA, SIgAD, defects of antigen presentation, IgG3 deficiency, and IgG4 deficiency. 20 , 21 …”

Section: Respiratorymentioning

confidence: 99%

“…Atopic dermatitis (AD) is reported to be correlated with AD‐HIES (job's syndrome), IPEX, Netherton syndrome, PGM3 deficiency, DOCK8 deficiency, STAT3 GOF, Omenn syndrome, activated leukocyte cell adhesion molecule (ALCAM), and hypereosinophilia. 6 , 11 , 63 The eczematous‐like rash is presented in IPEX, WAS, Omenn syndrome, CHH, or Netherton syndrome. 6 , 9 , 16 Urticaria‐like rashes can appear in patients with APECED, PLAID, ADGRE2 mutation, familial cold autoinflammatory syndrome (FCAS), Muckle‐Wells syndrome (MWS), and neonatal‐onset multisystem inflammatory syndrome (NOMID).…”

Section: Dermatologicmentioning

confidence: 99%

“… 6 , 9 , 16 Urticaria‐like rashes can appear in patients with APECED, PLAID, ADGRE2 mutation, familial cold autoinflammatory syndrome (FCAS), Muckle‐Wells syndrome (MWS), and neonatal‐onset multisystem inflammatory syndrome (NOMID). 6 , 11 Recurrent urticarial rashes are reported in HIES (Hiob syndrome or Buckley syndrome). 64 Sun‐sensitive skin lesions and hypo or hyperpigmented skin lesions are detected in Bloom syndrome.…”

Section: Dermatologicmentioning

confidence: 99%

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Organ‐based clues for diagnosis of inborn errors of immunity: A practical guide for clinicians

Mohammadi

Yadegar

Mardani

et al. 2023

Immunity Inflam & Disease

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Inborn errors of immunity (IEI) comprise a group of about 490 genetic disorders that lead to aberrant functioning or the development of distinct immune system components. So far, a broad spectrum of IEI‐related manifestations has been noted in the literature. Due to overlapping signs and symptoms of IEI, physicians face challenges in appropriately diagnosing and managing affected individuals. The last decade has witnesses improving in the molecular diagnosis of IEI patients. As a result, it can be the mainstay of diagnostic algorithms, prognosis, and possibly therapeutic interventions in patients with IEI. Furthermore, reviewing IEI clinical complications demonstrates that the manifestations and severity of the symptoms depend on the involved gene that causes the disease and its penetrance. Although several diagnostic criteria have been used for IEI, not every patient can be explored in the same way. As a result of the failure to consider IEI diagnosis and the variety of diagnostic capabilities and laboratory facilities in different regions, undiagnosed patients are increasing. On the other hand, early diagnosis is an almost essential element in improving the quality of life in IEI patients. Since there is no appropriate guideline for IEI diagnosis in different organs, focusing on the clues in the patient's chief complaint and physical exams can help physicians narrow their differential diagnosis. This article aims to provide a practical guide for IEI diagnosis based on the involved organ. We hope to assist clinicians in keeping IEI diagnosis in mind and minimizing possible related complications due to delayed diagnosis.

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Section: Respiratorymentioning

confidence: 99%

Section: Respiratorymentioning

confidence: 99%

Section: Dermatologicmentioning

confidence: 99%

Section: Dermatologicmentioning

confidence: 99%

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Organ‐based clues for diagnosis of inborn errors of immunity: A practical guide for clinicians

Mohammadi

Yadegar

Mardani

et al. 2023

Immunity Inflam & Disease

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“…For example, “Eczematous dermatitis,” characterized by erythema, inflammatory papules or plaques, scale, and pruritus, is a common cutaneous presentation of a subset of PIDs [e.g., Omen syndrome, severe combined immunodeficiency (SCID)] ( 1 – 5 ). In addition, primary immunodeficiencies may present with nonspecific inflammatory eruptions, including granulomatous nodules, cold abscesses, urticaria, and ulcers ( 2 , 6 , 7 ).…”

Section: Introductionmentioning

confidence: 99%

A horse or a zebra? Unusual manifestations of common cutaneous infections in primary immunodeficiency pediatric patients

Ollech

Simon²,

Lev³

et al. 2023

Front. Pediatr.

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BackgroundPatients with primary immunodeficiency disorders (PIDs) often suffer from recurrent infections because of their inappropriate immune response to both common and less common pathogens. These patients may present with unique and severe cutaneous infectious manifestations that are not common in healthy individuals and may be more challenging to diagnose and treat.ObjectiveTo describe a cohort of patients with PIDs with atypical presentations of skin infections, who posed a diagnostic and/or therapeutic challenge.MethodsThis is a retrospective study of pediatric patients with PID with atypical presentations of infections, who were treated at the immunodeficiency specialty clinic and the pediatric dermatology clinic at the Sheba Medical Center between September 2012 and August 2022. Epidemiologic data, PID diagnosis, infectious etiology, presentation, course, and treatment were recorded.ResultsEight children with a diagnosis of PID were included, five of whom were boys. The average age at PID diagnosis was 1.7 (±SD 3.2) years. The average age of cutaneous infection was 6.9 (±SD 5.9) years. Three patients were born to consanguineous parents. The PIDs included the following: common variable immunodeficiency, severe combined immunodeficiency, DOCK8 deficiency, ataxia telangiectasia, CARD11 deficiency, MALT1 deficiency, chronic granulomatous disease, and a combined cellular and humoral immunodeficiency syndrome of unknown etiology. The infections included the following: ulcerative-hemorrhagic varicella-zoster virus (two cases) atypical fungal and bacterial infections, resistant Norwegian scabies, giant perianal verrucae (two cases), and diffuse molluscum contagiosum.ConclusionsIn this case series, we present unusual manifestations of infectious skin diseases in pediatric patients with PID. In some of the cases, recognition of the infectious process prompted life-saving treatment. Increasing familiarity with these dermatological manifestations, as well as keeping a high index of suspicion, is important to enabling early diagnosis of cutaneous infections in PIDs and initiation of prompt suitable treatment.

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Persistent methicillin-resistant Staphylococcus aureus bacteremia in an adult patient with Netherton's syndrome: A case report

Takahashi

Hagiya

Tanaka

et al. 2022

Journal of Infection and Chemotherapy

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Atopic Dermatitis and Allergic Urticaria

Cited by 14 publications

References 39 publications

Organ‐based clues for diagnosis of inborn errors of immunity: A practical guide for clinicians

Organ‐based clues for diagnosis of inborn errors of immunity: A practical guide for clinicians

A horse or a zebra? Unusual manifestations of common cutaneous infections in primary immunodeficiency pediatric patients

Persistent methicillin-resistant Staphylococcus aureus bacteremia in an adult patient with Netherton's syndrome: A case report

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