Job\u27s syndrome with an atypical presentation

Hyper Immunoglobulin E syndrome also called Job\u27s or Buckley Syndrome is a rare primary immunodeficiency disease characterized by elevated serum IgE levels (\u3e 2000 IU/ml), recurrent infections and eosinophilia. Other features include coarse facies and non-immunologic abnormalities of the dentition, bones, vasculature and connective tissues. We are reporting a case of a twenty four years old male with coarse facies who presented with severe pallor and upper gastrointestinal bleeding. Investigations revealed markedly elevated serum IgE levels (11,800 IU/ml), severe anaemia, esophageoduodenal erosions, Helicobacter pylori (H. pylori) gastritis and oro-esophageal candidiasis

Rare and heterogeneous manifestations of leucocyte adhesion deficiency type 1: report of two cases with diagnostic dilemmas and novel ITGB2 mutation

Abstract Background Primary immunodeficiency disorders (PID) are rare disorders with heterogeneous manifestations, overlapping with other diseases such as autoimmunity, malignancy, and infections. This makes the diagnosis very challenging and delays management. Leucocyte adhesion defects (LAD) are a group of PIDs in which patients lack adhesion molecules on leukocytes needed for their emigration through blood vessels to the site of infection. Patients with LAD can present with diverse clinical features including severe and life-threatening infections, early in life, and the absence of pus formation around infection or inflammation. There is often delayed umbilical cord separation, omphalitis, late wound healing, and a high white blood cell count. If not recognized and managed early, can lead to life-threatening complications and death. Case Presentation LAD 1 is characterized by homozygous pathogenic variants in the integrin subunit beta 2 (ITGB2) gene. We report two cases of LAD1 with unusual presentations (post-circumcision excessive bleeding and chronic inflammation of the right eye) which were confirmed by flow cytometric analysis and genetic testing. We found two disease-causing ITGB2 pathogenic variants in both cases. Conclusions These cases highlight the importance of a multidisciplinary approach to recognizing clues in patients with uncommon manifestations of a rare disease. This approach initiates a proper diagnostic workup of primary immunodeficiency disorder leading to a better understanding of the disease, and appropriate patient counseling, and helps clinicians to be better equipped to deal with complications