Haematological involvement associated with a mild autoinflammatory phenotype, in two patients carrying the E250K mutation of PSTPIP1

Research output: Contribution to journalArticle

Abstract

Objective. Hyperzincaemia/hypercalprotectinaemia (Hz/Hc) syndrome is a recently described condition caused by a specific de novo mutation (E250K) affecting PSTPIP1 gene. It has a phenotype distinct from classical pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome that includes severe systemic and cutaneous inflammation, hepatosplenomegaly, arthritis without sequelae, pancytopenia and failure to thrive. Methods. We describe an 8-year-old boy who presented recurrent right knee swelling mimicking septic arthritis and persistent bone marrow involvement, without cutaneous involvement. Results. Molecular analysis of the PSTPIP1 gene revealed the presence of a heterozygous E250K mutation. No growth failure was detected nor in the patient neither in his mother, carrying the same variant. Blood zinc and calprotectin MRP8/14 concentrations of the patient were found to be markedly increased. Therapy with anakinra was started with rapid disappearance of clinical symptoms and normalisation of CRP levels in 24 hours, but persistence of bone marrow involvement. Conclusion. The patient described has a milder phenotype, with no skin features, minor episodes of arthritis with no sequelae and normal growth. Compared to the patients with de novo mutations described in the literature, familial cases seem to have a milder phenotype. Our case further confirms the lack of efficacy of anakinra on bone marrow involvement.

Original languageEnglish
Pages (from-to)S113-S115
JournalClinical and Experimental Rheumatology
Volume35
Publication statusPublished - Jan 1 2017

Fingerprint

Interleukin 1 Receptor Antagonist Protein
Phenotype
Mutation
Bone Marrow
Skin
Arthritis
Leukocyte L1 Antigen Complex
Failure to Thrive
Pancytopenia
Infectious Arthritis
Growth
Genes
Zinc
Knee
Mothers
Inflammation
Therapeutics
Pyogenic arthritis, pyoderma gangrenosum, and acne

Keywords

  • And acne (PAPA) syndrome
  • Bone marrow
  • E250K
  • Pyoderma gangrenosum
  • Pyogenic arthritis

ASJC Scopus subject areas

  • Rheumatology
  • Immunology and Allergy
  • Immunology

Cite this

@article{7cb5055c3f5c4dd6bb7b70a14120ad22,
title = "Haematological involvement associated with a mild autoinflammatory phenotype, in two patients carrying the E250K mutation of PSTPIP1",
abstract = "Objective. Hyperzincaemia/hypercalprotectinaemia (Hz/Hc) syndrome is a recently described condition caused by a specific de novo mutation (E250K) affecting PSTPIP1 gene. It has a phenotype distinct from classical pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome that includes severe systemic and cutaneous inflammation, hepatosplenomegaly, arthritis without sequelae, pancytopenia and failure to thrive. Methods. We describe an 8-year-old boy who presented recurrent right knee swelling mimicking septic arthritis and persistent bone marrow involvement, without cutaneous involvement. Results. Molecular analysis of the PSTPIP1 gene revealed the presence of a heterozygous E250K mutation. No growth failure was detected nor in the patient neither in his mother, carrying the same variant. Blood zinc and calprotectin MRP8/14 concentrations of the patient were found to be markedly increased. Therapy with anakinra was started with rapid disappearance of clinical symptoms and normalisation of CRP levels in 24 hours, but persistence of bone marrow involvement. Conclusion. The patient described has a milder phenotype, with no skin features, minor episodes of arthritis with no sequelae and normal growth. Compared to the patients with de novo mutations described in the literature, familial cases seem to have a milder phenotype. Our case further confirms the lack of efficacy of anakinra on bone marrow involvement.",
keywords = "And acne (PAPA) syndrome, Bone marrow, E250K, Pyoderma gangrenosum, Pyogenic arthritis",
author = "Elena Belelli and Chiara Passarelli and Manuela Pardeo and Dirk Holzinger and {De Benedetti}, Fabrizio and Antonella Insalaco",
year = "2017",
month = "1",
day = "1",
language = "English",
volume = "35",
pages = "S113--S115",
journal = "Clinical and Experimental Rheumatology",
issn = "0392-856X",
publisher = "Clinical and Experimental Rheumatology S.A.S.",

}

TY - JOUR

T1 - Haematological involvement associated with a mild autoinflammatory phenotype, in two patients carrying the E250K mutation of PSTPIP1

AU - Belelli, Elena

AU - Passarelli, Chiara

AU - Pardeo, Manuela

AU - Holzinger, Dirk

AU - De Benedetti, Fabrizio

AU - Insalaco, Antonella

PY - 2017/1/1

Y1 - 2017/1/1

N2 - Objective. Hyperzincaemia/hypercalprotectinaemia (Hz/Hc) syndrome is a recently described condition caused by a specific de novo mutation (E250K) affecting PSTPIP1 gene. It has a phenotype distinct from classical pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome that includes severe systemic and cutaneous inflammation, hepatosplenomegaly, arthritis without sequelae, pancytopenia and failure to thrive. Methods. We describe an 8-year-old boy who presented recurrent right knee swelling mimicking septic arthritis and persistent bone marrow involvement, without cutaneous involvement. Results. Molecular analysis of the PSTPIP1 gene revealed the presence of a heterozygous E250K mutation. No growth failure was detected nor in the patient neither in his mother, carrying the same variant. Blood zinc and calprotectin MRP8/14 concentrations of the patient were found to be markedly increased. Therapy with anakinra was started with rapid disappearance of clinical symptoms and normalisation of CRP levels in 24 hours, but persistence of bone marrow involvement. Conclusion. The patient described has a milder phenotype, with no skin features, minor episodes of arthritis with no sequelae and normal growth. Compared to the patients with de novo mutations described in the literature, familial cases seem to have a milder phenotype. Our case further confirms the lack of efficacy of anakinra on bone marrow involvement.

AB - Objective. Hyperzincaemia/hypercalprotectinaemia (Hz/Hc) syndrome is a recently described condition caused by a specific de novo mutation (E250K) affecting PSTPIP1 gene. It has a phenotype distinct from classical pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome that includes severe systemic and cutaneous inflammation, hepatosplenomegaly, arthritis without sequelae, pancytopenia and failure to thrive. Methods. We describe an 8-year-old boy who presented recurrent right knee swelling mimicking septic arthritis and persistent bone marrow involvement, without cutaneous involvement. Results. Molecular analysis of the PSTPIP1 gene revealed the presence of a heterozygous E250K mutation. No growth failure was detected nor in the patient neither in his mother, carrying the same variant. Blood zinc and calprotectin MRP8/14 concentrations of the patient were found to be markedly increased. Therapy with anakinra was started with rapid disappearance of clinical symptoms and normalisation of CRP levels in 24 hours, but persistence of bone marrow involvement. Conclusion. The patient described has a milder phenotype, with no skin features, minor episodes of arthritis with no sequelae and normal growth. Compared to the patients with de novo mutations described in the literature, familial cases seem to have a milder phenotype. Our case further confirms the lack of efficacy of anakinra on bone marrow involvement.

KW - And acne (PAPA) syndrome

KW - Bone marrow

KW - E250K

KW - Pyoderma gangrenosum

KW - Pyogenic arthritis

UR - http://www.scopus.com/inward/record.url?scp=85035791795&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85035791795&partnerID=8YFLogxK

M3 - Article

C2 - 28628471

AN - SCOPUS:85035791795

VL - 35

SP - S113-S115

JO - Clinical and Experimental Rheumatology

JF - Clinical and Experimental Rheumatology

SN - 0392-856X

ER -