PD8.3: Innate auto-immuunziekte Flashcards
meningococcensepsis
- circulerende microdeeltjes die afkomstig zijn van bloedplaatjes of granulocyten, hebben procoagulante activiteit
- proteine C deficientie veroorzaakt door de sepsis
- IV ceftriaxone moet voor meningococcen worden gebruikt
autoimmuun diseases (AID)
- auto-antilichamen en autoreactieve T-cellen leidend tot structurele of functionele schade aan orgaanweefsel
auto-inflammatoire syndromen
ziekten mbt andormale innate immuunrespons zonder de betrokkenheid van auto-antilichamen of autreactieve T-cellen
tekenen van primaire immuundeficiëntie
- > 2 pneumonie
- > 4 bacteriele infecties /jaar
- bronchiectasis
- therapie resistente astma
- infecties in ongewone plekken
- ongebruikelijke pathogenen (oppertunistisch)
- te ernstig en te lang
- familiegeschiedenis. cosanguinity
tekenen van primaire immuundeficientie
- recurrent skin abscesses
- recureent of persistente wratten
- chronische diarree
- failure to thrive
- hepatosplenomegalie
- chronische huidproblemen
- vaccinatie complicaties (BCG)
- dysmorfische features
- allergische condities
diagnosis, where to look?
- recurrent respiratory and ENT infections … Ig defecten
- oppertunistische infecties, malaise, failure to thrive … T-cel dysfunctie
- recurrent infections of skin, mucal membranes, organs, skeletons … granulocyte disorders
secundaire immuundeficienties
- chemo
- nierinsufficientie
- lever dysfunctie
- DM
- leeftijd
defectieve leucocyte function
- production:
=severe neutropenia
=cyclic neutropenia - migration:
=leukocyte adhesion deficiency - destruction:
=CGD
=IFNgamma defect
=IL12 defect
chronic granulomatous disease (CGD)
- infections
=bacterial : phagocytosis is essential
=fungi: Tcells and neutrophils - granulomatous processes
clinic CGD
- pneumonia
- lymphadenitis
- cutaneus abcesses
- perirectal abcesses
- liver abcesses
- osteomyelitis
caused by especially: staphyocuccus aureus; salmonella ; aspergillus
mostly catalase positive microorganisms
diagnosis CGD
- flowcytometrie
- DNA
treatment CGD
- profylactic antibiotics + anti-fungal drugs (cotrimoxazol, itraconazol)
- IFN-gamma
- surgery; abcesses
- bone marrow transplant
- gene therapy ??
- steroids for granuloma formation
prognosis
- prognostic factors: Xlinked, age of presentation
- 20 year survival: 20-50%
- aspergillus frequently lethal
cyclic neutropenia
- autosomal dominant
- mutation in ELA2, encoding neutrophil elastase
- episodic severe neutropenia, lasts 3-6 days every 21 days
cyclic neutropenia clinically
- aphtous ulcers
- gingivitis
- stomatitis
- cellulitis
causes of neutropenia
- classification:
=hematological
=immunological/inflammatory disorders
=infections
=drugs/toxins - etiology:
=congenital
=MDS
=aplastic anemia
=leukemia
=autoimmune neutropenia
=cyclic
=malaria
=cytomegalovirus
=sepsis
STAT3 loss of function mutation
hyper-IgE syndromes
leukocyte adhesion deficiency type 1
periodonitis with early toothloss as part of a constellation of recurrent infections involving the gastrointestinal, urogenital, and respiratory tracts
genetic defect in CD18
gastro-enteric bacteria/fungi
IFN-gmma
mycobactria
specific asian PIDs
adult-onset immunodeficiency in thailand and taiwan
