Comparison Chart

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Acronym Name SAID group Gene Inheritance Ethnicity Frequency Timing of symptoms Age of onset Skin cutaneous Neurologic Auditory Ophthalamic Cardiopulmonary Abdominal Lymphatic Joints bones muscles cartilage Vasculitis Amyloidosis Abnormal labs
X-linked familial hemophagocytic lymphohistiocytosis; XIAP deficiency; X-linked lymphoproliferative syndrome type 2 (XLP-2)-MAS Macrophage Activation Diseases XIAP (BIRC4) X-linked. X-linked dominant male inheritance (typical presentation). There are some female carriers with some symptoms. Testing recommended for XIAP (and also SAP) in males with symptoms of HLH after Epstein-Barr virus (EBV) infections, or HLH presenting in childhood or adolescence. [84] Unknown Unknown-rare Onset of HLH may be the first sign of this disease, and may occur after Epstein-Barr infections (that can be severe). [85] Some cases developed pancytopenia and splenomegaly after MMR vaccine. [88] Infancy to early childhood. A few with school-age onset. [84] [88] Some patients may have erythema nodosum, including female carriers of an XIAP deficiency. [85] One case of recurrent rashes with fevers. [83] Prolonged, periodic fevers >7 days. [84] A few with pathologic cerebrospinal fluid (CSF). [85] Uncommon. One case with sensorineural hearing loss in childhood. [83] Hearing loss not noted in other cases. [84] [85] Uveitis [83] [87]. One case with bilateral cataracts in early childhood. [83] Severe cases of infectious mononulcleosis leading to HLH is common. [84] [85] Some with increased risk for severe, recurrent or rare respiratory infections. [88] Higher risk for early-onset inflammatory bowel diseases (Crohns, colitis, IBD), even in female carriers of the XIAP deficiency mutation. [85] Hepatomegaly, splenomegaly, granulomatous hepatitis. [83] [88] Chronic and/or hemorrhagic colitis that can be fatal (one case with portal hypertension). [88] Crohns-like disease, celiac-like disease. [87] Some patients with chronic liver failure and/or hepatitis. [85] Cholangitis (sometimes associated with colitis). [88] Splenomegaly (may be the first presenting symptom). [88] Hemophagocytic lymphohistiocytosis (HLH) affects 90% of cases [85] and many can have recurrent HLH. HLH can occur after Epstein-Barr virus (EBV). [85] [88] No known patients with lymphoma or aplastic anemia. [84] Uncommon. [84] [85] [88] One case with arthritis in the hips and knees that also developed myositis. [83] Not noted. [83] [84] [88] One case with elevated serum amyloid. [83] Not tested in other cases in the literature. High: ESR, CRP, liver function tests (LFTs), triglycerides, ferritin, [85] IL-18 [86] cytopenia. [85] Low: fibrinogen, platelets, anemia, neutropenia, hemophagocytosis. [88] Normal NK cell function [85] Variable NKT cell defects. [84] IgG normal in untreated patients. [85] Low IgG secondary to treatments. [84] [85]

Main authors:

Karen Durrant RN, BSN–President of The Autoinflammatory Alliance (autoinflammatory.org), & Dr Juan Ignacio Aróstegui MD–Immunologist at the CDB Hospital Clínic in Barcelona, Spain & Director of La Unidad de Enfermedades Autoinflamatorias (autoinflamatorias.com)

Acknowledgements: A special thanks to the many medical doctors who have helped to make voluntary suggestions in regards to the original comparative chart, and suggestions for our new Autoinflammatory Search Database: Dr Juan Ignacio Aróstegui, Dr Hal Hoffman, Dr Raphaela Goldbach-Mansky, Dr Scott Canna, Dr Anna Simon, Dr Polly Ferguson, Dr Rebecca Marsh, Dr Daniel Kastner, Dr Luca Cantarini, Dr Véronique Hentgen, Dr Nico M. Wulffraat, Dr Kieron Leslie, Dr Lori Broderick, Dr Mikail Kostik, Dr Beata Wolska, Dr Joost Frenkel, Dr Dan Kastner, Dr Helen Lachmann, Dr Jonathan Hausmann, Dr Phillip Kahn, Dr Israel Andrews, and to all that have been using our materials to educate others about autoinflammatory diseases worldwide.

Thank you to Black Peacock SE, especially David Schwieler, Tommy Westerberg and Lotti Ungerth Fastmarken for all your amazing work on this database. Also to Nathan Durrant and Jennifer Tousseau for all your help on this, the original chart, and many projects. Our deepest thanks to all of The Autoinflammatory Alliance Board of Directors, & to all the patients & families who have supplied images for this chart, & support for the Autoinflammatory Alliance. You are our greatest inspiration and strength!

Great thanks to all of the doctors from the International Society of Systemic Auto-Inflammatory Diseases (ISSAID) for their research & dedication to patients with autoinflammatory diseases, plus the opportunity to present the original chart in a poster session at the Autoinflammation 2013 Congress. Thanks for the inspiration for this chart also go to: The Translational Autoinflammatory Disease Section at the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) & The National Human Genome Research Institute at the National Institutes of Health (NIH); The Spanish Society of Pediatric Rheumatology (SERPE) & La Unidad de Enfermedades Autoinflamatorias; The French Centre de Référence des Maladies Auto-inflammatoires (CeRéMAI) & Le Club Rhumatismes et Inflamations; Dermatology Online Atlas. (DermIS Dermatology Information System), the Pediatric Rheumatology European Society (PReS),European League Against Rheumatism(EULAR), PRINTO, the EUROFEVER Project, the SHARE Consortium, The National Amyloidosis Centre, UK, The Interuniversity autoinflammation workgroup & Nijmegen center for Immunodeficiency and Autoinflammation (NCIA) of the Radboud Nijmegen University Medical Center, Nijmegen, The Netherlands, The American College of Rheumatology (ACR), CARRA, FAVOR & the many other research centers and doctors around the world.

Disclosure: All of the doctors involved in the authorship, review, editing and creation of this chart voluntarily donated their help for this educational reference, & received no financial compensation. Karen Durrant, RN has only received reimbursement only for for out-of-pocket travel costs from SOBI to attend a few meetings as a patient representative, but has received no personal financial compensation from any pharmaceutical company.

Swedish Orphan Biovitrum AB (Sobi), of Stockholm, Sweden provided the Autoinflammatory Alliance with an unrestricted grant in 2014 to support the development of this Autoinflammatory Search Database to help to educate medical professionals, and a future collection of disease-specific websites for patients. This grant, along with donated funds from the general public and patient community has helped to make this monumental project a reality, and we are so thankful!

Novartis Pharmaceuticals Canada Inc. provided The NOMID Alliance (now known as the Autoinflammatory Alliance) with an unrestricted grant in 2012 to help with the initial development & printing costs for the first comparative chart in print. An unrestricted grant from Swedish Orphan Biovitrum AB (Sobi) in 2013 supported many projects, including: the printing of the final comparative chart that we distributed at the 2013 ACR meeting, and 2014 PRYSM meeting, in addition to mailings to doctors worldwide. The NOMID Alliance has received a number of unrestricted grants at various times from Regeneron, Novartis & Sobi for grant-specific projects.

List of abbreviations:

Autoinflammatory Chart References