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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|
|Autoinflammation & PLCG2-associated Antibody Deficiency and Immune Dysregulation (APLAID)||PLCG2-associated||PLCG2 mutation||Autosomal dominant.||Unknown||Unknown but rare.||Recurrent skin lesions, chronic inflammation, and progressive eye complications from this disease.   ||Onset in infancy with recurrent skin lesions, arthralgia, eye inflammation, and infections. Some with intestinal symptoms. ||Erythematous plaques and vesiculopustular blistering rash that intensifies with heat & sun exposure. Cellulitis often develops with rashes.  ||Not noted.    No fevers noted as a part of this disease (but fevers may be present with infections).   ||Not noted. ||Many develop corneal erosions, blisters, ulcerations, intraocular hypertension, and/or cataracts.   ||Mild humoral immunodeficiency with increased frequency of sinus and/or respiratory infections or interstitial pneumonia.  ||Some with bouts of abdominal pain, bloody diarrhea, enterocolitis, or ulcerative colitis.  ||Not noted.  ||Not noted.  ||Not noted.  ||Not noted.  ||Low circulating IgA, IgM antibodies, decreased class-switched memory B cells & NK T cells. ANA negative.  |
|PLCG2-associated Antibody Deficiency & Immune Dysregulation (PLAID) – aka Familial Atypical Cold Urticaria (FACU) or FCAS3||PLCG2-associated||Heterozygous genomic deletions within the PLCG2 gene. ||Autosomal dominant.||Unknown. Most reported cases with European ancestry.||Unknown but rare.||Onset <5 minutes after exposure to cold air (evaporative cooling).  Frequent sinusitis or pneumonia, and respiratory infections. Concurrent autoimmune diseases.  ||Onset in infancy-under 6 months of age. Lifelong symptoms, but some find the symptoms less severe in adulthood.  ||Cold-triggered. Cold urticaria, erythema and itching post cold exposure (air, wet skin, cold food). Some w/angioedema; chronic granulomata. Some with ulcerative and cutaneous lesions from cold exposure. Negative Ice cube test. ||Not noted.   No fevers noted with cold-induced urticaria.  ||Not noted.  ||Uncommon. ||44% with recurrent sinus and/or respiratory infections, >50% with allergies, asthma and/or autoimmune diseases. ||Not noted. Some have concurrent autoimmune diseases that may involve other organs. ||Not noted. Some need IVIG for low immunoglobulins & frequent infections. A few with combined variable immune deficiency (CVID). ||Not noted.   Some have concurrent autoimmune diseases that may involve the joints, such as inflammatory arthritis or undifferenciated connective tissue diseases. ||Not noted.  ||Not noted.  ||High IgE. Low serum IgA, IgG, IgM. Decreased circulating CD19+ B cells, IgG+ & IgA+ memory B cells, NK cells. >60% +ANA. WBC normal.  |
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:
- ACE: Angiotensin-converting enzyme (lab test)
- ADA2: Adenosine deaminase 2
- ANCA+ Vasculitis: Granulomatosis w/polyangiitis (GPA); Wegener’s
- ARDS: Acute Respiratory Distress Syndrome
- CD14+ monocytes: Cluster of differentiation 14 positive monocytes
- CD19: B-lymphocyte antigen CD19-aka Cluster of Differentiation 19
- CD25: Soluble interleukin-2-receptor
- CNS: Central Nervous System (involving the brain, spinal cord)
- CRP: C-reactive protein (lab test);
- DIC: Disseminated intravascular coagulation
- ESR: Erythrocyte sedimentation rate (lab test); Westergren ESR
- GI: Gastrointestinal (organs in the abdomen)
- HSP: Henoch–Schönlein purpura, anaphylactoid purpura
- ICP: Intracranial pressure
- IDDM: Insulin-Dependent Diabetes Mellitus
- IL-18: Interleukin 18
- LFTs: Liver function tests (lab test): AST, ALT, GGT, ALK Phos, Bilirubin
- NK cells: Natural killer cells
- PMNs: Polymorphonuclear leukocytes (on lab tests w/ WBC count)
- PTT: Partial thromboplastin time (lab test)
- SAA: Serum amyloid A protein (lab test)
- TSH: Thyroid-stimulating hormone (lab test); thyrotropin
- WBC: White Blood Count (lab test)