1 Comparison Chart of Systemic Autoinflammatory Diseases (SAID). Cryopyrin-Associated Periodic Syndromes (CAPS) Pyrin Protein Folding Mevalonate Kinase Deficiencies Inflammatory Bone Diseases Pyogenic Diseases Granulomatous Monarch-1 Proteasome Idiopathic Macrophage Activation Diseases PLCG2-associated SLC29A3 related ADA2 deficiency Familial Cold Muckle-Wells Neonatal-Onset Schnitzler Familial Tumour Necrosis Hyperimmuno- Mevalonate Deficiency of Majeed Syndrome Chronic Recurrent Deficiency of Familial Psoriasis Pyogenic Sterile Juvenile Systemic NLRP12-Associat- Chronic Atypical Beh ets Disease Periodic Fever, Systemic -Onset Adult-Onset (Primary) Familial PLCG2-associated Autoinflammation SLC29A3 Spectrum Deficiency of Ad- Autoinflammatory Syndrome* Multisystem Syndrome Mediterranean Factor (TNF)- globulinemia D Aciduria (MA)
2 Interleukin-1 aka Chronic Recur- Multifocal Interleukin-36-Re- (PSORS2) aka Arthritis, Granulomatosis ed Periodic Fever Neutrophilic Aphthous Stoma- Juvenile Idiopathic Stills Disease aka Hemophagocytic Antibody Defi- & PLCG2-asso- Disorder aka H. enosine Deami- Syndrome* Autoinflammatory Fever* Associated with Periodic (IL-1 ) Receptor rent Multifocal Osteo- Osteomyelitis aka ceptor Antagonist CARD14-Mediated Pyoderma aka Blau syndrome, Syndrome aka Dermatosis w/ titis, Pharyngitis, Arthritis aka Still's, Adult Still's, Wissler- Lymphohistiocy- ciency & Immune ciated Antibody syndrome; Pigmented nase 2 (DADA2). Hypertrichosis w/IDDM;. Disease aka Chronic Periodic Sydrome Fever Syndrome (Mevalonate Kinase Antagonist (DIRA) myelitis, Congenital Synovitis, Acne, (DITRA) aka Pustular Psoriasis Gangrenosum, & Pediatric Granuloma- Familal Cold Autoin- Lipodystrophy & & Cervical Ad- Systemic Juvenile Fanconi Syndrome tosis aka Familial Dysregulation, Deficiency & Faisalabad Histiocytosis aka Fever w/Early Infantile Neurological aka Familial Hiber- (HIDS)* Deficiencies, such as aka Osteomyelitis, Dyserythropoietic Pustulosis, Hyperosto- Generalized Pustular Acne Syndrome tous Arthritis (PGA), flammatory Syndrome Elevated Temper- enitis (PFAPA) Idiopathic Arthritis Erythrophagocytic (PLAID) aka Familial Immune Dysregu- & Sinus Histiocytosis Onset Stroke (FEOS).)
3 HIDS & MA are also Anemia, & Neutro- sis, Osteitis Syndrome Early Onset Sarcoido- 2, or Guadaloupe Cutaneous Articular nian Fever* Sterile Multifocal Psoriasis (GPP) ature aka Nakajo- aka Marshall Lymphohistiocytosis Atypical Cold Urticaria lation (APLAID) w/Massive Lymphade- referred to as MKD) philic Dermatosis sis, or Jabs Syndrome Periodic Fever nopathy Syndrome (CINCA)* w/Periostitis Pustulosis Nishimura Syndrome Syndrome (FACU) or FCAS3. ACRONYM FCAS MWS NOMID/CINCA SCHNITZLER FMF TRAPS HIDS MA DIRA/OMPP MAJEED CRMO/SAPHO DITRA/PSORP CAMPS/PSORS2 PAPA BLAU/PGA/EOS NLRP12/FCAS2 CANDLE/PRAAS BEH ETS/BD PFAPA soJIA/sJIA AOSD 1 HLH/ FHL PLAID/FCAS3 APLAID SLC29A3 DADA2. GENE NLRP3 NLRP3 NLRP3 Currently unknown. MEFV TNFRSF1A MVK MVK IL1RN LPIN2 Currently unknown. IL36RN CARD14 PSTPIP1 NOD2 NLRP12 PSMB8; also ERAP1 (with HLA-B51); Currently unknown.
4 Currently unknown. Currently unknown. PRF1, STX11, STXBP2, Heterozygous genomic PLCG2 mutation SLC29A3 CECR1. (Some pts. w/somatic PSMB4, PSMB9, also variants near: CCR1, HLA-DRB1 in some pts. MUNC13-4 , RAB27A deletions within the NLRP3 mutations.)76 PSMA3, POMP 59 KLRC4, STAT4 42 w/European ancestry57 X link: SH2D1A, BIRC4 PLCG2 gene64. INHERITANCE Autosomal Dominant. Large familial groups, Autosomal Dominant. Autosomal Dominant. Spontaneous mutations, Spontaneous mutations, Unknown. Autosomal Recessive. Some cases are gene- Autosomal Dominant. Spontaneous mutations, Autosomal recessive. Some cases w/only one Autosomal recessive. Autosomal recessive. Autosomal recessive. Currently unknown. Autosomal recessive. Autosomal Dominant. Spontaneous mutations, Autosomal Dominant.
5 Spontaneous mutations, Autosomal Dominant. Autosomal Dominant. Spontaneous mutations, Autosomal recessive. Complex. Currently unknown. Complex. Currently unknown. Autosomal recessive, but if X-linked: inheri- Autosomal Dominant. Autosomal Dominant. Autosomal recessive. Autosomal recessive. some spontaneous some familial few familial dosage-dependent some familial mutation some familial some familial ,30 some familial ,30 tance is dominant. autosomal ETHNICITY Affects all races, but many are of European Affects all races, but many are of European Any present in all Affects all races, but most cases are in Turk, Armenian, Arab, Sephardic Jew, Affects all races. 2nd most common inherited Mostly of Dutch descent, Mostly of Dutch or Northern descent, or Northern Carriers in population of Newfoundland & Currently, the only documented cases are Affects all races, but the majority of patients have May affect all races.
6 Pts. w/Caucasian, Spanish, Most w/European or Asian ancestry. Pts. in US, Currently, the only docu- Affects all races. mented cases are from Unknown. Cases in Gua- Unknown. Caucasian, deloupe, US, Martinique, Hispanic, Japanese Rare in the USA. More common in the Middle Affects all Affects all races. soJIA accounts for 10%. Rare. Affects all Affects all races. 80% of Unknown. Most reported Unknown. African Americans, & 20% cases w/European Unknown. Many pts. w/ Unknown. Middle Eastern ancestry. More men than Most common inherited SAID (after FMF.)1 in Puerto Rico. Also Dutch of Middle Eastern European ancestry; more Asian, African, Algerian EU, Canada (Newfound- Europe, New Zealand & France, Italy, & Armenia. pts. & one case in East, Asia & Japan. of all of pts. w/European decent ancestry.)
7 Some from India, Paki- women are affected. periodic fever syndrome. Brazilian & Lebanese female pts. than ,22 & Tunisian ,75,77 land), Haiti, & the 38,39,75. South ,60 (Silk Road Route.)42,43 have PRF1 ,48 stan, Spain, FREQUENCY IN 1:1 million, or more. In USA 300+ diagnosed . 1:1 million, maybe more. Some large family Estimated frequency 1:1 million, mostly due Unknown. Over 150. known cases, mostly in In specific ethnic groups, the carrier Unknown. TRAPS affects :10,000 people in the Unknown, but very rare. Unknown, but very rare. >200-300 known patients <100 known patients Unknown, but very Unknown, but very rare. rare. In some regions of Very few documented Unknown, but rare. Unknown but rare. 1% of Unknown, but rare. Sfax, Tunisians are car- Unknown, but rare. Unknown, but rare.
8 Unknown, but rare. Unknown, but rare. Prevalence is 80- 370:100,000 people in Unknown. Most common Uncommon. non-infectious recurrent cases per 100,000. France: estimated that 1 HLH affects 1:50,000. :100,000 people have people Unknown but rare. Unknown but rare. Unknown but rare. Unknown but rare. THE WORLD most cases are from Frequency of to spontaneous genetic frequency of MEFV vari- European >1000 worldwide, (>300, when Aricibo, Puerto Rico cases at this ,53 riers, w/ a chance Turkey, 10:100,000 in fever people, per AOSD. AOSD affects large family ,5 CAPS in France is ants is up to 1:5 pts. suspected cases are w/more DIRA carriers, of having the disease in Japan & :100,000 in more women than 1:360, also included.)12 DIRA may occur 1 this Yorkshire, TIMING OF 12-24 hours, or longer.
9 Onset of fever & flares Often lasts 2-3 days. Random onset flares of Continuous w/increased symptoms & fever 12-36 hours. Rash is present first. Intermit- 12-72 ,9 Days to weeks. Recurrent fever & flares Average flare is 3. 3-7 days. Recurrent bouts of fever & flares every 4-5 days. Recurrent flares & fever every 2-3. Continuous inflamma- tion from birth/fetal Flares last for a few days, w/1-4 exacerba- At least 6 months w/chronic or relapsing Flares last days weeks. Some w/chronic symp- Continuous chronic pustular or plaque Early-onset, destructive, recurrent inflamma- Intermittent-persistent daily fevers, rash &. 1-3, to up to 7-15 days of fevers 39 40 C, rash &. Frequent fevers w/dis- ease flares. Inflammatory Mouth ulcers are pres- ent in almost all patients Periodic fevers & symp- toms lasting 3-6 days, Fevers often > 39 C 1-2.
10 Times/day for >2 weeks, High fevers > 39 C that last for <4 hours, Fevers often > 39 C 1-2. times/day for >2 weeks, Onset <5 minutes after exposure to cold air Recurrent skin lesions, chronic inflammation, Fever 39 C w/flares that last 7-10 days w/joint &. Intermittent, recurrent fevers, livedo reticularis SYMPTOMS is often 1-3 hours after fever & symptoms are during Chronic tent fevers, that often can occur weekly, or ,9 2-12 ,9 Some weeks. Patients have development. Untreated tions a month of high symptoms. Often 7-25 toms. Most flare w/infec- psoriasis, triggered by tion of the joints, skin & arthritis. pain. Onset after expo- flares & symptoms are during flares, for around recurring every 21-28 most often occuring in recurring more than most often occurring in (evaporative cooling).