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FD9 > 39 - Autoinflammatory Disorders > Flashcards

39 - Autoinflammatory Disorders Flashcards

1
Q

Autoinflammatory disorders are diseases of the _____ immune system

A

Innate

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2
Q

Cryopyrin-associated periodic syndromes (CAPS) are caused by gain of function mutations in ______, the gene encoding ______

A

NLRP3

NLRP3 or cryopyrin

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3
Q

The spectrum of Cryopyrin-associated periodic syndromes (CAPS) includes

A
  1. Familial cold autoinflammatory syndrome (FCAS)
  2. Muckle-Wells syndrome (MWS)
  3. Chronic infantile neurologic cutaneous and articular syndrome (CINCO) or Neontal-onset multisystem inflammatory disease (NOMID)
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4
Q

Inheritance pattern:

  1. Familial cold autoinflammatory syndrome (FCAS)
  2. Muckle-Wells syndrome (MWS)
  3. Chronic infantile neurologic cutaneous and articular syndrome (CINCO) or Neontal-onset multisystem inflammatory disease (NOMID)
A
  1. Inherited
  2. Inherited
  3. Sporadic
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5
Q

Common characteristic feature in cryopyrin-associated periodic syndromes (CAPS), and usually the first sign of disease

A

Urticarial skin lesions

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6
Q

Cryopyrin-associated periodic syndromes (CAPS) and Schnitzler syndrome vs common urticaria

A

CAPS and Schnitzler syndrome - usually nonpruritic or only slightly itchy; unresponsive to antihistamines

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7
Q

Triggers:

  1. Familial cold autoinflammatory syndrome (FCAS)
  2. Muckle-Wells syndrome (MWS)
  3. Chronic infantile neurologic cutaneous and articular syndrome (CINCO) or Neontal-onset multisystem inflammatory disease (NOMID)
A
  1. Cold induced
  2. None
  3. None
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8
Q

Neurological involvement of:

  1. Familial cold autoinflammatory syndrome (FCAS)
  2. Muckle-Wells syndrome (MWS)
  3. Chronic infantile neurologic cutaneous and articular syndrome (CINCO) or Neontal-onset multisystem inflammatory disease (NOMID)
A
  1. None
  2. None
  3. Chronic aseptic meningitis
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9
Q

Auditory involvement:

  1. Familial cold autoinflammatory syndrome (FCAS)
  2. Muckle-Wells syndrome (MWS)
  3. Chronic infantile neurologic cutaneous and articular syndrome (CINCO) or Neontal-onset multisystem inflammatory disease (NOMID)
A
  1. None
  2. Sensorineural hearing loss
  3. Sensorineural hearing loss
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10
Q

Amyloidosis:

  1. Familial cold autoinflammatory syndrome (FCAS)
  2. Muckle-Wells syndrome (MWS)
  3. Chronic infantile neurologic cutaneous and articular syndrome (CINCO) or Neontal-onset multisystem inflammatory disease (NOMID)
A
  1. Rare
  2. Frequent
  3. Frequent
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11
Q

CAPS: Radiographs of the long bones reveal epiphyseal overgrowth that is characteristic and unique to

A

Chronic infantile neurologic cutaneous and articular syndrome (CINCO) or Neontal-onset multisystem inflammatory disease (NOMID)

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12
Q

Genetic testing for NLRP3 mutations:

  1. Familial cold autoinflammatory syndrome (FCAS)
  2. Muckle-Wells syndrome (MWS)
  3. Chronic infantile neurologic cutaneous and articular syndrome (CINCO) or Neontal-onset multisystem inflammatory disease (NOMID)
A
  1. Almost all are mutation-positive
  2. Almost all are mutation-positive
  3. Not all have a detectable mutation
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14
Q

First drug use to treat Cryopyrin-associated periodic syndromes (CAPS)

A

Anakinra

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15
Q

Two longer-acting IL-1 antagonists

A

Rilonacept

Canakinumab

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16
Q

Coexistence of a monoclonal IgM gammopathy is a diagnostic feature of

A

Schnitzler syndrome

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17
Q

Some Schnitzler syndrome patients have been shown to have mosaicism of ______ mutations

A

NLRP3

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18
Q

Patients with Schnitzler syndrome present with the first syndrome around

A

50 years of age or older

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19
Q

Usually the first sign of Schnitzler syndrome

A

Recurrent urticarial skin lesions

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20
Q

Characteristic feature of Schnitzler syndrome and distinguishes it from Cryopyrin-associated periodic syndromes (CAPS)

A

Monoclonal gammopathy, mostly IgM kappa light chain

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21
Q

Prognosis of Schnitzler syndrome depends on the

A

Possible evolution to lymphoproliferative disorder

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22
Q

Deficiency of the IL-1 receptor antagonist (DIRA) is cause by mutations in _____, the gene coding ______

A

IL1RN

IL-1Ra

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23
Q

Manifests as perinatal to several months of age-onset pustular skin eruption, with oral mucosal lesions, failure to gain weight and painful joint swelling

A

Deficiency of the IL-1 receptor antagonist (DIRA)

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24
Q

Characteristic radiographic findings include balloon-like widening of the anterior rib ends, periosteal elevation of multiple long bones, and multifocal osteolytic lesions

A

Deficiency of the IL-1 receptor antagonist (DIRA)

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25
Q

Not a typical feature of Deficiency of the IL-1 receptor antagonist (DIRA)

A

High fever

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26
Q

Deficiency of the IL-36 receptor antagonist (DITRA) is caused by mutations in _____, the gene coding ______

A

IL36RN

IL-36 receptor antagonist (IL-36Ra)

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27
Q

Lack of the negative regulator IL-36Ra leads to aberrant IL-36 signaling and subsequent overproduction of _____, a strong neutrophil chemoattractant, in keratinocytes

A

IL-8

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28
Q

Deficiency of the IL-36 receptor antagonist (DITRA) is termed as a monogenic form of

A

Generalized pustular psoriasis

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29
Q

Deficiency of the IL-36 receptor antagonist (DITRA) disease flares are thought to be triggered by

A 
Viral or bacterial infections
Medications (amoxicillin)
Mensturation
Pregnancy
Withdrawal of retinoid therapy
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30
Q

Deficiency of the IL-36 receptor antagonist (DITRA) vs Generalized pustular psoriasis

A

DITRA - no joint involvement

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31
Q

CARD14-mediated pustular psoriasis (CAMPS) or psoriasis 2 (PSORS2) is caused by a gain-of-function mutations in

A

CARD14 or CARMA2

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32
Q

CARD14 is primarily expressed in

A

Epidermal keratinocytes

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33
Q

Most common and the first genetically characterized monogenic autoinflammatory disorder

A

Familial Mediterranean fever (FMF)

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34
Q

Familial Mediterranean fever (FMF) is caused by mutations in _____, the gene encoding _____

A

MEFV

Pyrin

35
Q

Pyrin is expressed predominantly in the

A

Cytoplasm of cells of myeloid lineage including neutrophils, along with synovial fibroblasts and dendritic cells

36
Q

Characterized by recurrent short febrile attacks associated with peritonitis, pleuritis, synovitis, and erysipelas-like skin lesions

A

Familial Mediterranean fever (FMF)

37
Q

May trigger an attack of Familial Mediterranean fever (FMF)

A

Cold exposure
Fatigue
Emotional stress
Mensturation

38
Q

Most severe complication is _____, which can lead to _____, a major cause of mortality in patients with Familial Mediterranean fever (FMF)

A

Secondary amyloidosis

Renal failure

40
Q

Some do not tolerate colchicine mainly because of its

A

Gastrointestinal side effects

41
Q

Elderly patients and those with renal impairment treated with colchicine may develop

A

Myopathy or neuropathy

42
Q

Hyperimmunoglobulinemia D with periodic fever syndrome (HIDS) or Mevalonate kinase deficiency (MKD) is caused by mutations in _____, the gene encoding _____

A

MVK

Mevalonate kinase

43
Q

Severe and fatal form of Hyperimmunoglobulinemia D with periodic fever syndrome (HIDS) or Mevalonate kinase deficiency (MKD) in which the enzyme activity of mevalonate kinase is below 1%

A

Mevalonic aciduria

44
Q

FDA-approved therapy for Hyperimmunoglobulinemia D with periodic fever syndrome (HIDS) or Mevalonate kinase deficiency (MKD) and Tumor necrosis factor receptor-associated periodic syndrome (TRAPS)

A

Anti-IL-1 therapy with canakinumab

45
Q

Hyperimmunoglobulinemia D with periodic fever syndrome (HIDS) or Mevalonate kinase deficiency (MKD) flares are generally triggered by

A

Immunizations
Trauma including surgery
Physical and emotional stress

46
Q

Most common skin lesions in Hyperimmunoglobulinemia D with periodic fever syndrome (HIDS) or Mevalonate kinase deficiency (MKD)

A

Widespread erythematous macules and papules

47
Q

Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is caused by mutations in ______, the gene coding _____

A

TNFRSF1A

TNF receptor-1 (TNFR1)

48
Q

Initially termed familial Hibernian fever

A

Tumor necrosis factor receptor-associated periodic syndrome (TRAPS)

49
Q

Second most common known inherited periodic fever syndrome

A

Tumor necrosis factor receptor-associated periodic syndrome (TRAPS)

50
Q

TNF receptor-1 (TNFR1) is expressed on

A

Leukocytes

Endothelial cells

51
Q

Episodes of Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) usually occur spontaneously, but may also be triggered by

A

Infection
Minor injury
Stress
Exercise

52
Q

Most frequent skin lesions in Tumor necrosis factor receptor-associated periodic syndrome (TRAPS)

A

Erythematous patches and plaques that can be migratory and associated with underlying myalgia

53
Q

Haploinsufficiency of A20 (HA20) is caused by loss-of-function mutations in _____, the gene encoding _____

A

TNFAIP3

A20/TNFAIP3

54
Q

The symptoms of Haploinsufficiency of A20 (HA20) are indistinguishable from

A

Behcet’s disease

55
Q

Otulipenia or OTULIN-related autoinflammatory syndrome (ORAS) is caused by loss-of-function mutations in

A

OTULIN or GUMBY/FAM105B

56
Q

_____ is a deubiquitinase that negatively regulates the NF-kB signaling pathway by cleaving linear ubiquitin chains, whereas _____ deubiquitinase does so by cleaving K63 ubiquitin chains

A

OTULIN

A20

57
Q

Relapsing nodular panniculitis with neutrophil infiltrate are typically observed

A

Otulipenia or OTULIN-related autoinflammatory syndrome (ORAS)

58
Q

Otulipenia or OTULIN-related autoinflammatory syndrome (ORAS) can be treated with

A

TNF-alpha inhibitor

62
Q

Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE) or proteasome-associated recessive disorder (PRAAS) is caused by homozygous or compound heterozygous mutations in

63
Q

Recurrent fever, pernio-like and nodular erythema-like eruptions, long, clubbed fingers, and progressive lipodystrophy are characteristic features

A

Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE) or proteasome-associated recessive disorder (PRAAS)

64
Q

Sporadic form of Blau syndrome (BS)

A

Early-onset sarcoidosis (EOS)

65
Q

Blau syndrome (BS) or early-onset sarcoidosis (EOS) are caused by mutations in _____, the gene encoding _____

A

NOD2 or CARD15

NOD2

66
Q

Typically the first sign of Blau syndrome (BS) or early-onset sarcoidosis (EOS), occurring before 4 years of age

A

Granulomatous dermatitis

67
Q

Triad of granulomatous dermatitis, arthritis and uveitis

A

Blau syndrome (BS) or early-onset sarcoidosis (EOS)

68
Q

NOD2 or CARD15 is mainly expressed in the

A

Cytoplasm of monocytes, macrophages, granulocytes, and dendritic cells

69
Q

NOD2 recognizes _____, a cell wall component of both gram-positive and gram-negative bacteria

A

Muramyl dipeptide

70
Q

_____, often present in sarcoidosis, is absent in Blau syndrome (BS) or early-onset sarcoidosis (EOS)

A

Bilateral hilar lymphadenopathy

71
Q

Arthritis in Blau syndrome (BS) or early-onset sarcoidosis (EOS) has a characteristic phenotype of

A

Chronic, symmetrical, and mostly painless polyarthritis

72
Q

Can be the most difficult manifestation to treat and is the main cause of long-term complications in Blau syndrome (BS) or early-onset sarcoidosis (EOS)

73
Q

Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome (PAPA) syndrome is caused by mutations in _____, the gene encoding _____

A 
PSTPIP1
PSTPIP1 (proline-serine-threonine phosphatase interacting protein 1)
74
Q

PSTPIP1 can interact with _____, mutations of which cause _____

A

Pyrin

Familial Mediterranean fever (FMF)

75
Q

Typically, the symptoms of Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome (PAPA) syndrome get (milder/more severe) with age

76
Q

Majeed syndrome is caused by mutations of the _____ gene, the gene encoding _____

A

LPIN2

Lipin-2

77
Q

Symptom triad of Majeed syndrome

A

Chronic recurrent multifocal osteomyelitis (CRMO)
Congenital dyserythropoietic anemia (CDA)
Neutrophilic dermatosis resembling Sweet syndrome

78
Q

Congenital dyserythropoietic anemia presents as

A

Hypochromic, microcytic anemia

79
Q

Most frequent cutaneous manifestation of Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome

A

Palmoplantar pustulosis

Severe acne

80
Q

Major osteoarticular manifestation of Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome are

A

Oligoarthritis and osteitis mainly affecting the anterior chest wall

81
Q

Onset of Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome

A

Middle-aged adults

82
Q

First line of treatment in Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome

89
Q

Treatment for:
Cryopyrin-associated periodic syndromes (CAPS)
Schnitzler syndrome
Deficiency of the IL-1 receptor (DIRA)

A

IL-1 antagonists

115
Q

Treatment for familial Mediterrenean fever (FMF)

A

Colchicine

117
Q

Autosomal recessive disorders

A

Deficiency of the IL-1 receptor antagonist (DIRA)
Deficiency of the IL-36 receptor antagonist
Familial Mediterranean fever (FMF)
Hyperimmunoglobulinemia D with periodic fever syndrome (HIDS) or Mevalonate kinase deficiency (MKD)
Otulipenia or OTULIN-related autoinflammatory syndrome (ORAS)
Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE) or proteasome-associated recessive disorder (PRAAS)

125
Q

Sporadic disorders

A

Schnitzler syndrome
Early-onset sarcoidosis (EOS)
Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome

137
Q

Autosomal dominant disorders

A

Cryopyrin-associated periodic syndromes (CAPS)
CARD14-mediated pustular psoriasis (CAMPS) or psoriasis 2 (PSORS2)
Less common AD Familial Mediterranean fever (FMF)
Tumor necrosis factor receptor-associated periodic syndrome (TRAPS)
Haploinsufficiency of A20 (HA20)
Blau syndrome (BS)
Pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome
Majeed syndrome

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