Publications by authors named "Pooja Purswani"

Allergen-specific immunotherapy for the treatment of immunoglobulin E mediated food allergies, specifically oral, epicutaneous, and sublingual immunotherapies, are promising options that may provide an alternative to strict avoidance of the dietary allergen. Of these potential therapies, oral immunotherapy is the furthest along in development, with strong evidence of efficacy in clinical trials, and has achieved regulatory approval. Nevertheless, oral immunotherapy may not be a suitable therapy for some patients due to the risk of adverse effects.

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Background: Exposure to adverse childhood experiences (ACEs) is associated with many childhood diseases and poor health outcomes in adulthood. However, the association with childhood obesity is inconsistent. We investigated the association between reported cumulative ACE score and body mass index (BMI) in a large sample of patients at a single institution.

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Autoimmunity is becoming an increasingly recognized complication in patients with primary immunodeficiencies (PIDs), including a variety of combined immune deficiencies such as Recombination Activating Gene (RAG) defects. The approach to treating autoimmunity in PID patients is complex, requiring a balance between immunosuppression and susceptibility to infection. Inflammatory arthritis is a feature of immune dysregulation in many PIDs, and the optimal treatment may differ from first line therapies that usually consist of disease-modifying anti rheumatic drugs (DMARDs).

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Article Synopsis
  • The text discusses the importance of connecting SCID symptoms to specific genetic causes, especially with advances in newborn screening and gene therapy options.
  • In western countries, X-linked IL2RG and ADA deficiency SCID are prevalent types that can be treated with gene therapy, but diagnosing genetic variants can be challenging due to their polymorphic nature and complexities in coding and non-coding regions.
  • The authors provide examples of X-linked SCID cases where initial tests did not reveal pathogenic variants, highlighting the need for further functional studies and maternal X-inactivation tests to confirm diagnosis and ensure timely eligibility for gene therapy.
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