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Clinical Approach to the Diagnosis of Autoinflammatory Diseases

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Book cover Textbook of Autoinflammation

Abstract

In this chapter, we present the clinical approach to patients with a suspected autoinflammatory syndrome. We describe a systematic approach to the history, physical examination, system involvement and laboratory testing and offer an algorithm on investigative pathways for these patients. We discuss the various diagnostic criteria currently used for specific autoinflammatory diseases. Finally, we propose an approach, including empiric treatment and management, to the many patients with suspected autoinflammatory syndromes who remain undiagnosed, despite a comprehensive work-up, including genetic testing.

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Abbreviations

AGS:

Aicardi-Goutières syndrome

AIDAI:

Autoinflammatory diseases activity index

AP1S3:

Adaptor related protein complex 1 sigma 3 subunit

APLAID:

Autoinflammation and PLAID

CAPS:

Cryopyrin-associated periodic syndromes

CARD:

Caspase activation and recruitment domain

CNO:

Chronic non-bacterial osteomyelitis

DADA2:

Deficiency of adenosine deaminase 2

DIRA:

Deficiency of the IL-1 receptor antagonist

DITRA:

Deficiency of the IL-36 receptor antagonist (generalized pustular psoriasis)

FCAS:

Familial cold autoinflammatory syndrome

FMF:

Familial Mediterranean fever

IBD:

Inflammatory bowel disease

IL:

Interleukin

MAS:

Macrophage activation syndrome

MKD:

Mevalonate kinase deficiency

MWS:

Muckle-Wells syndrome

NLRC:

Nucleotide-binding oligomerization (NOD), leucine rich repeats and CARD domain containing

NLRP:

Nucleotide-binding domain, leucine-rich repeat, and pyrin domain containing

NOMID:

Neonatal-onset multisystem inflammatory disease

PAAND:

Pyrin-associated autoinflammation with neutrophilic dermatosis

PAPA:

Pyogenic sterile arthritis, pyoderma gangrenosum, and acne

PFAPA:

Periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis

PFIT:

Periodic fever, immunodeficiency and thrombocytopenia

PLAID:

PLCγ2-associated antibody deficiency and immune dysregulation

PSTPIP1:

Proline-serine-threonine phosphatase-interacting protein 1

SAPHO:

Synovitis, acne, pustulosis, hyperostosis and osteitis

SAVI:

STING-associated vasculopathy with onset in infancy

SIFD:

Sideroblastic anemia, immunodeficiency, fevers, and developmental delay

sJIA:

Systemic juvenile idiopathic arthritis

TNF:

Tumor necrosis factor

TRAPS:

Tumor necrosis factor receptor-associated periodic syndrome

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Author information

Authors and Affiliations

  1. Pediatric Rheumatology Unit, Shaare Zedek Medical Center and Hebrew University, Jerusalem, Israel

    Philip J. Hashkes

  2. National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA

    Karyl S. Barron

  3. Department Paediatrics, Division of Rheumatology, The Hospital for Sick Children and University of Toronto, Toronto, ON, Canada

    Ronald M. Laxer

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  1. Philip J. Hashkes
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  2. Karyl S. Barron
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  3. Ronald M. Laxer
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Corresponding author

Correspondence to Philip J. Hashkes .

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Editors and Affiliations

  1. Pediatric Rheumatology Unit, Shaare Zedek Medical Center and Hebrew University, Jerusalem, Israel

    Philip J. Hashkes

  2. Department Paediatrics, Division of Rheumatology, The Hospital for Sick Children and University of Toronto, Toronto, ON, Canada

    Ronald M. Laxer

  3. Department of Internal Medicine, Radboudumc Expertisecenter for Immunodeficiency and Autoinflammation, Radboud University Medical Center, Nijmegen, The Netherlands

    Anna Simon

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Hashkes, P.J., Barron, K.S., Laxer, R.M. (2019). Clinical Approach to the Diagnosis of Autoinflammatory Diseases. In: Hashkes, P., Laxer, R., Simon, A. (eds) Textbook of Autoinflammation. Springer, Cham. https://doi.org/10.1007/978-3-319-98605-0_11

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  • DOI: https://doi.org/10.1007/978-3-319-98605-0_11

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  • Print ISBN: 978-3-319-98604-3

  • Online ISBN: 978-3-319-98605-0

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