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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|
|Hyperimmunoglobulinemia D with Periodic Fever Syndrome||Mevalonate Kinase Deficiencies||MVK||Autosomal recessive. Some cases with only one mutation found. ||Mostly of Dutch descent, or Northern European. ||Unknown, but very rare. >200-300 known patients worldwide, (>300, when suspected cases are also included.) ||3-7 days duration. Recurrent bouts of fever and flares every 2-12 weeks.   Some flares occur after vaccines. ||>90% present with symptoms in infancy. ||Diffuse maculopapular rash. Polymorphous rashes. Some with petechiae or purpura present. ,  50% with apthous ulcers or genital ulcers.  Porokeratosis of Mibelli in one patient, and disseminated superficial actinic porokeratosis (DSAP) in a few cases of patients of Asian ancestry. ||Headaches and fevers with flares of symptoms are common.   More severe neurological symptoms are rarely present in HIDS. ||Uncommon – not believed to be caused by HIDS.  ||Uncommon.  Some with conjunctivitis.  and there are a few patients with retinitis pigmentosa (RP). ||Rare.  Some patients have developed severe respiratory infections. Higher risk for issues with S. pneumoniae infections. ||Extreme pain, vomiting and diarrhea with flares. ,  A few cases with colitis, including early-onset, and sometimes severe colitis in the neonatal period, with bloody diarrhea. . Some with hepatomegaly, splenomegaly, hepatosplenomegaly, or other gastrointestinal issues. ||Cervical lymphadenopathy with flares.  A few with splenomegaly.  A few patients have had macrophage activation syndrome (MAS.) ||Arthralgias are common, symmetric polyarthritis is frequently noted. ||Cutaneous vasculitis is common. Henoch-Schönlein purpura (HSP) is rare. ||<5-10% – uncommon. ||High: ESR, CRP, SAA with flares. Mevalonate aciduria noted during flares.  High IgD with IgA in 80% patients. IgD may be normal in infants and young children with HIDS. Note that there are other conditions where IgD may sometimes be elevated, (see also FMF, TRAPS, PFAPA on our chart) so this is not considered the most accurate diagnostic lab for MVK diseases.|
|Mevalonate Aciduria (MA) (Mevalonate Kinase Deficiencies, such as HIDS and MA are also referred to as MKD)||Mevalonate Kinase Deficiencies||MVK||Autosomal recessive.||Mostly of Dutch descent, or Northern European. ||Unknown, but very rare. <100 known patients worldwide. ||4-5 days. Recurrent flares with fevers every 2-3 weeks. Patients have chronic inflammation noted between flares. ||Most present with symptoms at birth, or in early infancy. Most have facial features noted at birth. ||Diffuse maculopapular or morbilliform rash. Some with petechiae or purpura present. A few with apthous ulcers. , , ||Fevers with flares. Microcephaly, dolichocephaly, intellectual disability, cognitive and/or developmental delays, cerebellar ataxia, cerebellar atrophy and seizures (epilepsy) often develop over time.  Patients with Mevalonate Kinase Deficiencies can have flares triggered by vaccines.||Uncommon–not believed to be caused by MA.   ||Uveitis, central cataracts, blue sclerae and tapetoretinal degeneration are often present, even in less severe cases. ||Rare.  ||Hepatomegaly, splenomegaly or hepatosplenomegaly. Cholestatic liver disease. Abdominal pain, vomiting and diarrhea with flares.    One case with hepatic fibrosis. ||Splenomegaly, and/or lymphadenopathy are common. , ||Congenital defects are often noted: microcephaly, dolichocephaly, wide irregular fontanels, low set and posteriorly rotated ears, downslanted palpebral fissures. Hypotonia, myopathy, arthralgia, arthritis and failure to thrive are common. ||Not noted. ||Not noted-unknown.  ||Anemia, leukocytosis, thrombocytopenia. High: ESR, CRP, SAA, CK, IgD, IgA, IgE; chronically high Mevalonate aciduria.  |
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)