Mutation in the proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1) gene in a patient with acute lymphoblastic leukemia

Autoinflammatory syndromes are disorders characterized by recurrent or chronic inflammation caused by the dysregulation of the innate immune system. Hemophagocytic lymphohistiocytosis (HLH) is an aggressive and life-threatening syndrome of overactivation of the immune system.

We present a case of a 20-month-old boy who was referred to an oncology clinic because of HLH suspicion. In the preceding time, our patient suffered from a severe form of chickenpox with prolonged fever. Tests including myelogram, cerebrospinal fluid, and magnetic resonance (MR) of the brain gave a diagnosis of acute lymphoblastic leukemia from B lymphocyte precursors, without occupying the central nervous system. To exclude inherited HLH in our patient, next-generation sequencing was performed, which revealed a heterozygous missense mutation in exon 15 of the PSTPIP1 gene (c.1213C>T, R405C). No mutations of genes associated with familial HLH syndrome were found.

Our patient may be evidence that autoinflammatory diseases caused by PSTPIP1 gene mutations are not limited to the classical pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) phenotype but may have a different clinical presentation, and the spectrum of the PSTPIP1-associated inflammatory diseases (PAID) syndrome is more extensive than previously thought.