Abstract
Background: Hyper IgE syndrome (HIES) is a rare primary immunodeficiency disorder characterized by elevated serum immunoglobulin E (IgE) levels. Autosomal dominant and autosomal recessive forms of HIES have been reported. Autosomal recessive HIES typically includes a history of asthma, atopic dermatitis, food allergy, and recurrent viral infection. HIES diagnosis requires genetic study, which is time-consuming and not always feasible.
Case Presentation: We report the case of an 8-year-old female. The patient recently presented to our emergency department with pallor and syncope. Upon examination, the hemoglobin level was 4.9 g/dl. Direct antiglobulin test showed a positive result. The patient had an admitting diagnosis of autoimmune hemolytic anemia, a rare complication of autosomal recessive HIES. The patient is a known case of asthma, herpetiformis dermatitis, nut allergy, and allergic rhinitis. HIES was the first possible diagnosis, which was further confirmed by clinical presentation and a high serum IgE count. The patient was referred to a tertiary care center for genetic counseling and further follow-up.
Conclusion: HIES is a rare immune deficiency disorder that can be inherited in either an autosomal dominant or recessive pattern. Although these two types show similar clinical presentations, certain features remain distinct, providing a valuable insight into the final diagnosis even without the gene study results. To the best of our knowledge, no study has evaluated HIES in general, and no case report has evaluated autosomal recessive HIES in Saudi Arabia. This case study will guide the medical community in the early-stage diagnosis and management of HIES.

Key words: Hyper IgE syndrome, immunological syndromes, autoimmune hemolytic anemia, case report, immunoglobulin E, DOCK8.