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Inborn Errors of Immunity Presenting with Early-Onset Severe Atopy.

Medicina (Kaunas)

January 2025

Division of Allergy/Immunology, Department of Pediatrics, Jackson Memorial Holtz Children's Hospital, University of Miami Miller School of Medicine, Miami, FL 33136, USA.

Inborn errors of immunity (IEIs), also known as primary immunodeficiencies, are a group of genetic disorders affecting the development and function of the immune system. While IEIs traditionally present with recurrent infections, an increasing number of cases manifest with early-onset severe atopy, including atopic dermatitis, food allergies, asthma, and allergic rhinitis-features that are often overlooked. This can lead to delayed diagnosis and treatment, which is crucial for IEI patients due to the risk of severe infections.

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Introduction: Preschool wheeze and school-aged asthma present a large healthcare burden. Both conditions are now recognized to be heterogeneous, with similar symptom presentation but likely different underlying lung pathology.

Areas Covered: Current treatment options for preschool wheeze are constrained by extrapolations from the management of school-aged children with asthma.

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Chronic rhinosinusitis is divided into two groups, which are Chronic rhinosinusitis with nasal polyps (CRSwNP) and without nasal polyps (CRSsNP). The rate of post-surgical recurrence in the CRSwNP is high, and predicting factors are unknown. This study aims to identify and evaluate risk factors associated with treatment-resistant and recurrent CRSwNP.

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Article Synopsis
  • Primary atopic disorders (PAD) are rare genetic conditions caused by specific gene variants that affect skin and immune function, making diagnosis challenging among common allergic disease cases.
  • Identifying PAD requires recognizing clinical red flags like family history and unusual infections, as conventional lab tests are inadequate for definitive diagnosis.
  • Whole-genome sequencing (WGS) enhances diagnostic efficiency and accuracy, but requires careful interpretation and collaboration among specialists to effectively manage PAD cases.
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Vernal keratoconjunctivitis is a persistent allergic ocular disease predominantly mediated by the T-helper 2 lymphocyte-associated immune response. The standard therapeutic approaches for vernal keratoconjunctivitis include topical corticosteroids and immunosuppressive eye drops. However, managing vernal keratoconjunctivitis with only topical treatments becomes challenging during seasonally exacerbated periods.

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