Background: Hyper IgE syndrome (HIES) is a rare primary immune deficiency, described as Job(`)s syndrome characterized by increased serum levels of IgE, eczema, recurrent cutaneous and pulmonary infections. In this paper, we presented a case of Hyper IgE syndrome.
Case Presentation: A 16-year-old Iranian boy presented with a one year history of skin lesions in knees and elbows was diagnosed of psoriasis disease. He had a history of recurrent infections including otitis media, pneumonia, diarrea and skin infection. Laboratory results showed increased level of total IgE and normal in other immunoglobulin. Histologic finding showed hyperkeratosis, parakeratosis of acanthotic epidermis with regular elongation of rete ridges diagnose psoriasis disorder.
Conclusion: In conclusion, this is the first case of hyper IgE patient with psoriasis disorder. We addressed the important laboratory findings and actual theories explaining possible association between hyper IgE immunoglobulinemia and psoriasis disorder.
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World J Methodol
December 2024
Department of Pediatric Allergy and Immunology, Sakarya University, Medical Faculty, Adapazarı 54100, Sakarya, Türkiye.
Inborn errors of immunity (IEI) disorders, formerly primary immune deficiency diseases, are a heterogeneous group of disorders with variable hereditary transitions, clinical manifestations, complications and varying disease severity. Many of the clinical symptoms, signs and complications in IEI patients can be attributed to inflammatory and immune dysregulatory processes due to loss of microbial diversity (dysbiosis). For example, in common variable immunodeficiency patients, the diversity of bacteria, but not fungi, in the gut microbiota has been found to be reduced and significantly altered.
View Article and Find Full Text PDFImmunol Res
December 2024
Paediatric Immunology and Rheumatology Unit, Aster CMI Hospital, Bengaluru, India.
DOCK8 deficiency is the most common cause of autosomal recessive hyper-IgE syndrome (AR-HIES). The clinical spectrum is wide resulting in combined immunodeficiency, atopy, autoimmunity, and malignancies. To study the clinical and molecular profile of 20 patients with DOCK8 deficiency.
View Article and Find Full Text PDFCell Death Dis
December 2024
Department of Pathogen Biology, School of Basic Medicine, Tongji Medical College and State Key Laboratory for Diagnosis and Treatment of Severe Zoonotic Infectious Diseases, Huazhong University of Science and Technology, Wuhan, China.
DOCK8 deficiency has been shown to affect the migration, function, and survival of immune cells in innate and adaptive immune responses. The immunological mechanisms underlying autosomal recessive (AR) hyper-IgE syndrome (AR-HIES) caused by DOCK8 mutations remain unclear, leading to a lack of specific therapeutic options. In this study, we used CRISPR/Cas9 technology to develop a mouse model with a specific DOCK8 point mutation in exon 45 (c.
View Article and Find Full Text PDFTher Adv Respir Dis
November 2024
Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
Background: Immunodeficiencies (IDs) are conditions caused by immune system dysfunctions which predispose to chronic infections. Cystic fibrosis (CF) patients are characterized by the presence of bronchiectasis filled with hyper-viscous secretions that constitute the ideal environment for infections. Although CF and IDs might share similarities in the pathophysiological mechanism of bronchiectasis development, they each offer different treatment options.
View Article and Find Full Text PDFAnn Hum Genet
January 2025
Pediatrics Department, Faculty of Medicine, Cairo University, Cairo, Egypt.
Introduction: Activation-induced cytidine deaminase (AID) deficiency is a rare autosomal recessive inborn error of immunity (IEI) characterized by increased susceptibility to infections, autoimmunity, and/or autoinflammation. AID plays an important role in immunoglobulin class switching and somatic hypermutation. AID deficiency patients have very low or absent levels of IgG, IgA, and IgE, while IgM level is elevated.
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