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DOI: 10.1055/a-2684-7920
When Immunodeficiency Isn’t the Whole Story: CTLA-4 Haploinsufficiency and Munchausen by Proxy Syndrome
Wenn Immundefizienz nicht die ganze Geschichte ist: CTLA-4-Haploinsuffizienz und das Münchhausen-Stellvertreter-SyndromAuthors

Introduction
Child abuse is defined as any behavior – intentional or unintentional – by an adult that negatively affects a child’s physical or psychosocial development (Violence Prevention Committee et al., Ann Emerg Med 2000; 36: 180). Among its various forms, Munchausen syndrome by proxy (MSBP) – formally classified as Factitious Disorder Imposed on Another (FDIA) in the DSM-5 – is a rare but severe form of abuse that is often difficult to diagnose and may lead to life-threatening outcomes.
The term “Munchausen” originates from Baron Karl Friedrich von Munchausen, an 18th-century figure known for telling exaggerated and fictitious stories about his adventures (Asher R et al., Lancet 1951; 1(6650): 339–341). The syndrome was first described by Roy Meadow in 1977 (Meadow R, Lancet 1977; 2(8033): 343–345).
MSBP is characterized by a caregiver – most commonly the mother – who fabricates or induces medical symptoms in a child. While the DSM-5 classifies this condition as FDIA, the term MSBP remains widely used in clinical pediatrics and child protection contexts (American Psychiatric Association, DSM-5, 2013).
Typically, the caregiver seeks frequent medical consultations, driven by a desire for attention, sympathy, or emotional validation. Meadow later outlined four essential diagnostic criteria for MSBP (Meadow R, Child Abuse Negl 2002; 26(5): 501–508):
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The illness is fabricated or induced by the caregiver.
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The child undergoes repeated medical evaluations without clinical justification, and the caregiver denies involvement.
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Symptoms improve when the child is separated from the caregiver.
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The caregiver’s motivation is to assume the sick role by proxy or to gain attention.
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Artikel online veröffentlicht:
22. September 2025
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