PAMI syndrome : A rare cause that can be easily misdiagnosed

© 2021 Wiley Periodicals LLC..

PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome caused by mutations in PSTPIP1 is a rare inflammatory disorder that can be easily misdiagnosed. It is characterized by anemia, arthritis, cutaneous inflammation, recurrent infections, growth failure, hepatosplenomegaly, lymphadenopathy, hyperzincemia/hypercalprotectinemia, neutropenia, thrombocytopenia, and elevated inflammatory indicators. This study describes the cases of two pediatric female patients with long-standing recurrent arthralgia in different parts of the extremities and severe anemia, respectively, who were misdiagnosed and treated for aseptic necrosis of the femoral head and severe autoimmune hemolytic anemia, respectively. High-throughput sequencing analysis revealed a de novo heterozygous missense mutation (c.748G > A, p. Glu250Lys) in exon 11 of PSTPIP1 (NM_003978.5) in both patients, which supported a diagnosis of PAMI. The patients were treated with prednisone and etanercept, which improved their symptoms, but neutropenia remained unchanged. These cases highlight the importance of genetic assessment for the accurate diagnosis of PAMI and to ensure adequate and timely treatment of these patients.

Medienart:

E-Artikel

Erscheinungsjahr:

2021

Erschienen:

2021

Enthalten in:

Zur Gesamtaufnahme - volume:185

Enthalten in:

American journal of medical genetics. Part A - 185(2021), 10 vom: 05. Okt., Seite 3074-3082

Sprache:

Englisch

Beteiligte Personen:

Xu, Xue-Mei [VerfasserIn]
Huang, Hua [VerfasserIn]
Ding, Fei [VerfasserIn]
Yang, Zhen [VerfasserIn]
Wang, Jian [VerfasserIn]
Jin, Yan-Liang [VerfasserIn]

Links:

Volltext

Themen:

Adaptor Proteins, Signal Transducing
Anemia
Arthritis
Case Reports
Cytoskeletal Proteins
Neutropenia
PAMI syndrome
PSTPIP1
PSTPIP1 protein, human
Research Support, Non-U.S. Gov't

Anmerkungen:

Date Completed 17.01.2022

Date Revised 17.01.2022

published: Print-Electronic

Citation Status MEDLINE

doi:

10.1002/ajmg.a.62367

funding:

Förderinstitution / Projekttitel:

PPN (Katalog-ID):

NLM325957460