199 - PSTPIP1-Associated Myeloid-Related Proteinemia Inflammatory Syndrome (PAMI Syndrome)

Abstract: PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome (PAMI Syndrome)

Alcaraz A, Mahmoodi L, Lopez, S

University of Southern California, Los Angeles, CA



Introduction: PAMI syndrome is a rare autoinflammatory condition that begins early in life and is caused by pathogenic variants in the PSTPIP1 gene, most commonly p.E250K and p.E257K. The PSTPIP1 protein acts as a regulatory phosphatase involved in immune signaling, including T-cell regulation, activation of phagocytic cells, cytoskeletal organization, and interleukin-1–driven inflammatory pathways. Clinically, PAMI syndrome is characterized by chronic systemic inflammation and hematologic abnormalities such as anemia, neutropenia, and thrombocytopenia. Additional features include arthritis, skin inflammation, growth impairment, hepatosplenomegaly, lymphadenopathy, and elevated zinc and calprotectin levels.

Case Report: A 4-year-old female was referred to the Children’s Hospital Los Angeles dental clinic for evaluation of dental caries, gingival bleeding, and mobile teeth. Her medical history was significant for PAMI syndrome, iron deficiency, arthralgia, anemia, neutropenia, and Factor XII deficiency. Medications included chlorhexidine (Peridex) and the patient had no known drug allergies.

Initial examination revealed multiple dental caries, heavy plaque with moderate calculus, and extensive alveolar bone loss. Given the patient’s complex medical history and significant dental treatment needs, comprehensive dental care under general anesthesia was recommended. Clinical and radiographic findings included caries, severe gingival inflammation, and advanced bone loss. As a result of the extensive bone loss, all remaining primary teeth were extracted. This case highlights the oral and radiographic manifestations of PAMI syndrome and describes the dental management provided.

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