Glossary

 

Defects affecting the inflammasome

  • FMF - Familial Mediterranean Fever

  • MKD - Mevalonate Kinase Deficiency (HIDS - Hyper IgD Syndrome / MA -Mevalonic Aciduria)

  • MW - Muckle-Wells syndrome

  • FCAS1 - Familial cold autoinflammatory syndrome 1

  • FCAS2 - Familial cold autoinflammatory syndrome 2

  • NOMID - Neonatal onset multisystem inflammatory disease OR CINCA - Chronic infantile neurologic cutaneous and articular syndrome 

  • NLRC4-MAS Familial cold autoinflammatory syndrome 4 - Macrophage Activating Syndrome

  • CAPS - Cryopyrin-associated periodic syndromes 

  • APLAID - autoinflammation and PLCγ2 associated antibody deficiency and immune dysregulation

Non inflammasome-related conditions

  • TNF receptor-associated periodic syndrome (TRAPS)

  • Pyogenic sterile arthritis, pyoderma gangrenosum, acne (PAPA) syndrome

  • Blau syndrome

  • ADAM17 deletion

  • Chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anemia (Majeed syndrome)

  • DIRA (Deficiency of the Interleukin 1 Receptor Antagonist)

  • DITRA – Deficiency of IL-36 receptor antagonist

  • SLC29A3 mutation (H syndrome)

  • CAMPS (CARD14 mediated psoriasis)

  • Cherubism

  • COPA defect

  • ADA2 deficiency

  • Chronic recurrent multifocal osteomyelitis (CRMO)

  • Defects in the complement system D84.1 (C1 esterase inhibitor [C1-INH] deficiency)

  • Familial cold autoinflammatory syndrome-2 (FCAS2)  E85.0

  • Outulin deficiency

  • Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA)

  • SAPHO Syndrome (synovitis, acne, pustulosis, hyperostosis, and osteitis)

  • Recurrent idiopathic pericarditis

Type 1 Interferonopathies

  • TREX1 deficiency, Aicardi-Goutieres syndrome 1 (AGS1)

  • Familial chillblain lupus 1

  • RNASEH2B deficiency, AGS2

  • RNASEH2C deficiency, AGS3

  • RNASEH2A deficienc y, AGS4

  • SAMHD1 deficiency, AGS5

  • Familial chillblain lupus 2

  • ADAR1 deficiency, AGS6

  • Aicardi-Goutieres syndrome 7(AGS7)

  • Spondyloenchondro-dysplasia with immune dysregulation (SPENCD)

  • STING–associated vasculopathy, infantileonset

  • CANDLE (chronic atypical neutrophilic dermatitis with lipodystrophy)

  • Autosomal recessive Systemic Lupus Erythematous

Monogenic Inflammatory bowel diseases

  • IL-10 deficiency

  • IL-10Rα deficiency

  • IL-10Rβ deficiency

  • NFAT5 haploinsufficiency

Miscellaneous

  • PLAID (PLCγ2 associated antibody deficiency and immune dysregulation) / Familial cold autoinflammatory syndrome 3

  • H syndrome

  • Defects in the complement system D84.1 (C1 esterase inhibitor [C1-INH] deficiency)

  • Chronic Inflammatory Demyelinating Polyneuropathy (CIDP)

  • Secondary AA amyloidosis

  • Systemic amyloidosis

Reference: http://rita.ern-net.eu//rare-diseases/

Genetic Terminology

  • Heterozygous - "Heterozygous alleles are both different for the same characteristic, for example Aa."

  • Homozygous - "Homozygous alleles are both identical for the same characteristic, for example AA or aa."

  • Dominant - "A dominant allele is always expressed, even if one copy is present. Dominant alleles are represented by a capital letter, for example, A. The allele for brown eyes is dominant. You only need one copy of this allele to have brown eyes. Two copies will still give you brown eyes."

  • Autosomal Recessive - "A recessive allele is only expressed if the individual has two copies and does not have the dominant allele of that gene. Recessive alleles are represented by a lower case letter, for example, a. The allele for blue eyes is recessive. You need two copies of this allele to have blue eyes."

Reference: https://www.bbc.co.uk/bitesize/guides/zcdfmsg/revision/1 

Other

IL-1 = Interlukin 1

IL - 6 = Interlukin 6

TNF = Tumor necrosis factor

Disability and Sickness Benefits

DLA - Disability Living Allowance (for children under 16 years)

PIP - Personal Independence Payment (for over 16 years)

ESA - Employment and Support Allowance

WTC - Working Tax Credits

CMS - Child Maintenance Service

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Disclaimer: Please note that RACC - UK provides this information for the benefit of the Autoinflammatory community. RACC - UK is not a medical provider or health care facility and thus can neither diagnose any disease or disorder nor endorse or recommend any specific medical treatments. Patients must rely on the personal and individual medical advice of their qualified health care professionals before seeking any information related to their particular diagnosis, cure or treatment of a condition or disorder.

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