Differential Diagnosis for Potential Genetic Immune Disorder

Given the patient's history of kidney stones in early 20's and early onset of Eosinophilic Esophagitis (EoE), along with the consideration of a genetic immune disorder, the following differential diagnoses are considered:

• Single Most Likely Diagnosis

  • Atopic Disease: This includes conditions like atopic dermatitis, asthma, and allergic rhinitis, which often cluster in families and can be associated with EoE. The early onset of EoE and potential for other atopic conditions makes this a plausible diagnosis.

• Other Likely Diagnoses

  • Primary Immunodeficiency Diseases (PID): Conditions such as Hyper-IgE syndrome or Wiskott-Aldrich syndrome could explain the early onset of EoE and potentially other immune-related issues, including an increased susceptibility to infections or autoimmune phenomena.
  • Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED): Although rare, this condition involves autoimmune manifestations and could potentially explain a predisposition to autoimmune or immune dysregulation conditions, including EoE.

• Do Not Miss Diagnoses

  • Chronic Granulomatous Disease (CGD): This condition affects the immune system's ability to kill certain bacteria and fungi. While it might not directly cause EoE or kidney stones, it's a critical diagnosis due to its implications for recurrent life-threatening infections.
  • Hyperparathyroidism: This condition can lead to kidney stones due to elevated calcium levels. In the context of a potential genetic immune disorder, familial forms of hyperparathyroidism should be considered, especially as part of multiple endocrine neoplasia (MEN) syndromes.

• Rare Diagnoses

  • IPEX Syndrome (Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked): Characterized by severe autoimmune and allergic phenomena, this X-linked condition could potentially explain early onset EoE and other immune dysregulation issues.
  • STAT3 GOF (Gain of Function) Mutation: Associated with Hyper-IgE syndrome, this could lead to a range of immune and autoimmune issues, including potentially EoE, though it's less directly linked to kidney stones.

Each of these diagnoses has a different level of likelihood based on the provided history, but considering the genetic immune panel and the specific symptoms (early onset EoE and kidney stones), it's essential to keep a broad differential to ensure that no critical diagnoses are missed. The genetic panel results from Westmead hospital will be crucial in guiding further investigations and potentially pinpointing the exact nature of the condition.