Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation

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Synonyms: APLAID

A rare mixed autoinflammatory and autoimmune syndrome disorder characterized by recurrent neutrophilic blistering skin lesions arthralgia ocular inflammation inflammatory bowel disease absence of autoantibodies and mild immunodeficiency manifested by recurrent sinopulmonary infections and deficiency of circulating antibodies. Inflammatory phenotype is not provoked by cold temperatures.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation?

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