Autoinflammatory syndromes

Question 1

most common monogenic inheritted autoninflam syndrome

Answer 1

FMF- familial mediterranean fever
AR
MUTATION IN MEFV

Question 2

fmf char by

Answer 2

recurrent attacks kf 12-72 hrs of fever and a monoarthitis w overlying erysipelas like erythema.

Question 3

fmf mainstay tx

Answer 3

colchicine

Question 4

fmf tx if colchicine failed

Answer 4

anti IL1 tx.

Question 5

AD disorder chat by pyogenic sterile arthiritis , PG AND ACNE.
caused by
PSTP1P1 or CD2BP1

Answer 5

PAPA syndrome

Question 6

TNF rceptor assoc periodic syndrome (TRAPS) is assoc w

Answer 6

FMF. but shows AD inheritance , longer attacks; wnd alack of response to colchicine.
mutation: TNFRSF1A gene.

Question 7

TRAPS MANIF

Answer 7

Febrile ep 1-3 weeks acc by periorbital edema, abdominal pain, myalgia; painful distally migrating erythematous and uritcarial like plaques, myalgia.

NSAID AND PRED- Acute spisodes.

Question 8

DIRA ( Deficiency of il1 receptor antagonist)

Answer 8

AR
mutation in ILIRN
PRESENT: Neonatal sterile osteomyelitis, periostitis, pustulosis.

Question 9

def of ADA2( Dada2 subdrome) due to CECR1 Mutation desc as

Answer 9

early onset stroke; intermittent fever, systemic vaculopathy.

Question 10

HIDS( Huper IgD syndrome) mutation

Answer 10

MVK gene.
mvk deficiency.
inc IL1

present as periodic fever, lymphadenopathy, GI, musculoskeletal; neuro issues

Question 11

Blau syndrlme inheritsnce

Answer 11

AD

arthritis, ubeitis; grabulomatous inflamm; camptodactyly,
Mutation in NOD 2 gene.

Question 12

CANDLE

Answer 12

chronic atypical neutrophilic dermatosis w lipdystophy and elevated tempreture.

mutation in proteosone components leads to inc cell stress and pro inflaamm cytokines.

mutatuon in PSMB8 gene.

present i newborn oeriod as fever swollen purplish red eyelids red purplish papules and plaques of trunk nefk and extremities. lipodystrophy of face.

skim biopsy: Atypical cells of myelocytic lineage in dermis.