Frommherz Leonie, Akçetin Larissa, Hauck Fabian, Giehl Kathrin
Zentrum für seltene und genetische Hautkrankheiten, Klinik und Poliklinik für Dermatologie und Allergologie, LMU Klinikum - Campus Innenstadt | Frauenlobstr. 9-11, 80337, München, Deutschland.
Immundefektambulanz, Kinderklinik und Kinderpoliklinik im Dr. von Haunerschen Kinderspital, LMU Klinikum, München, Deutschland.
Dermatologie (Heidelb). 2024 Jul;75(7):577-586. doi: 10.1007/s00105-024-05331-w. Epub 2024 Jun 10.
Inborn errors of immunity (IEI) can affect different parts of the immune system and manifest especially through pathological infection susceptibility and immune dysregulation. Cutaneous manifestations of IEI can hint at the underlying immunodeficiency and the tendency for infection and inflammation. These manifestations can present as recurring eczema, erythema, abscesses, and hair loss with poor response to therapy. Cutaneous manifestations can be specific for certain IEI, or rather unspecific. Together with clinical course and severity, they can indicate the diagnosis. Early and accurate recognition, diagnosis, and treatment are crucial for optimizing patient outcomes. The diagnosis can be determined through a detailed patient history, clinical examination, and immunological diagnostics. Collaboration between immunologists and dermatologists is vital for comprehensive care and improvement of life quality.
遗传性免疫缺陷病（IEI）可影响免疫系统的不同部位，尤其表现为对病理性感染易感性增加和免疫失调。IEI的皮肤表现可提示潜在的免疫缺陷以及感染和炎症倾向。这些表现可为反复出现的湿疹、红斑、脓肿和脱发，且治疗反应不佳。皮肤表现可能对某些IEI具有特异性，也可能相当不具特异性。结合临床病程和严重程度，它们可提示诊断。早期准确的识别、诊断和治疗对于优化患者预后至关重要。可通过详细的患者病史、临床检查和免疫学诊断来确定诊断。免疫学家和皮肤科医生之间的合作对于全面护理和提高生活质量至关重要。
