A rare case of Autosomal Dominant Hyper IgE syndrome
Keywords:
Hyper IgE Syndrome (HIES), Primary Immunodeficiency, STAT3 Mutation, Autosomal Dominant HIES, Genetic Testing, Recurrent InfectionsAbstract
Inborn Errors of Immunity (IEI), once called Primary Immunodeficiency Disorders, are rare genetic conditions that weaken the immune system, making individuals prone to frequent infections, allergies, or even autoimmune problems. These conditions usually show up in childhood and vary widely in how they affect people.
One such condition is Hyper IgE Syndrome (HIES), a rare disorder known for high levels of IgE antibodies, recurring skin and lung infections, and eczema-like rashes. It can also involve bone, dental, and connective tissue abnormalities. There are two main types: the autosomal dominant form (AD-HIES), caused by mutations in the STAT3 gene, and the more severe autosomal recessive form (AR-HIES), often involving other genes like DOCK8.
We present a case of a 7-year-old girl with the dominant form of HIES, who had a long history of skin infections, dry skin and recurrent otitis. Genetic testing confirmed a mutation in the STAT3 gene. With supportive care and preventive treatment, her condition improved significantly.
This case highlights how important it is to recognize signs of IEI early. Thanks to modern genetic testing, many of these disorders can now be identified sooner, leading to better outcomes through targeted treatments and ongoing care
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Kim, V.H.D., Upton, J.E.M., Derfalvi, B. et al. Inborn errors of immunity (primary immunodeficiencies). Allergy Asthma Clin Immunol 20 (Suppl 3), 76 (2024). https://doi.org/10.1186/s13223-024-00938-z
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Tangye SG, Al-Herz W, Bousfiha A, Cunningham-Rundles C, Franco JL, Holland SM, Klein C, Morio T, Oksenhendler E, Picard C, Puel A, Puck J, Seppänen MRJ, Somech R, Su HC, Sullivan KE, Torgerson TR, Meyts I. Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol. 2022 Oct;42(7):1473-1507. doi: 10.1007/s10875-022-01289-3. Epub 2022 Jun 24. PMID: 35748970; PMCID: PMC9244088.
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