Top

Journal of Clinical Immunology

Published in:

Open Access 19-04-2022 | Neutropenia | Letter to Editor

PAMI Syndrome: Two Cases of an Autoinflammatory Disease with an ALPS-Like Phenotype

Authors: Fionnuala Cox, Venetia Bigley, Alan Irvine, Ronan Leahy, Niall Conlon

Published in: Journal of Clinical Immunology | Issue 5/2022

Excerpt

To the Editor, …

Demidowich AP, et al. Genotype, phenotype, and clinical course in five patients with PAPA syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, and acne). Arthritis Rheum. 2012;64(6):2022–7. https://doi.org/10.1002/art.34332.CrossRefPubMed

Marzano AV, Borghi A, Meroni PL, Cugno M. Pyoderma gangrenosum and its syndromic forms: evidence for a link with autoinflammation. Br J Dermatol. 2016;175(5):882–91. https://doi.org/10.1111/bjd.14691.CrossRefPubMed

Holzinger D, et al. Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)-associated inflammatory diseases. J Allergy Clin Immunol. 2015;136(5):1337–45. https://doi.org/10.1016/j.jaci.2015.04.016.CrossRefPubMedPubMedCentral

Takagi M et al. (2018) Genetic heterogeneity of uncharacterized childhood autoimmune diseases with lymphoproliferation. Pediatric Blood Cancer 65(2)

Shoham NG, et al. Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway. Proc Natl Acad Sci U S A. 2003;100(23):13501–6. https://doi.org/10.1073/pnas.2135380100.CrossRefPubMedPubMedCentral

Title: PAMI Syndrome: Two Cases of an Autoinflammatory Disease with an ALPS-Like Phenotype
Authors: Fionnuala Cox
Venetia Bigley
Alan Irvine
Ronan Leahy
Niall Conlon
Publication date: 19-04-2022
Publisher: Springer US
Keywords: Neutropenia
Lymphadenopathy
Published in: Journal of Clinical Immunology / Issue 5/2022
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI: https://doi.org/10.1007/s10875-022-01265-x

ACC 2024 Congress Coverage

Cardiology Video

Highlights from the ACC 2024 Congress

Watch now

Watch official videos from the ACC congress summarizing key highlights from the last year in heart failure, cardiomyopathies, valvular disease, pulmonary vascular disease, and pediatric cardiology.

Semaglutide benefits people with type 2 diabetes and obesity-related heart failure

16-04-2024 Type 2 Diabetes News

Incentivised to exercise

11-04-2024 Lifestyle Modifications News

New intervention for STEMI-related cardiogenic shock

10-04-2024 Myocardial Infarction News

» View more highlights on the ACC 2024 congress hub page

Image Credits

ACC 2024 Pediatric and Congenital Heart Disease: Year in Review/© 2024 American College of Cardiology, ACC 2024 Pulmonary Vascular Disease: Year in Review/© 2024 American College of Cardiology, ACC 2024 Valvular Heart Disease: Year in Review/© 2024 American College of Cardiology, ACC 2024 HF and Cardiomyopathies: Year in Review/© 2024 American College of Cardiology, Woman out walking/© Seventyfour / stock.adobe.com (symbolic image with model), Woman checking smartwatch /© saltdium / stock.adobe.com (symbolic image with model), Cardiac catheterization/© Damian / stock.adobe.com

ACC 2024 Congress

Springer Medicine

Excerpt

Please log in to get access to this content

Other articles of this Issue 5/2022

Mutations in RNU7-1 Weaken Secondary RNA Structure, Induce MCP-1 and CXCL10 in CSF, and Result in Aicardi-Goutières Syndrome with Severe End-Organ Involvement

Clinical and Laboratory Factors Affecting the Prognosis of Severe Combined Immunodeficiency

Impact of JAK Inhibitors in Pediatric Patients with STAT1 Gain of Function (GOF) Mutations—10 Children and Review of the Literature

SARS-CoV-2-Specific and Functional Cytotoxic CD8 Cells in Primary Antibody Deficiency: Natural Infection and Response to Vaccine

Interpretation of Dihydrorhodamine-1,2,3 Flow Cytometry in Chronic Granulomatous Disease: an Atypical Exemplar