Maturasi

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Hyper-IgE Recurrent Infection Syndrome (Job's Syndrome)
netrofil, monosit, sel T, sel B, osteoklas affected
1. mutasi di signal transducer and activator of transcription 3 (STAT3)
- autosom dominan
- terjadi inhibisi signaling STAT normal
- sel T yg memproduksi IL17 (utk infeksi mukosa dan ekstraseluler) menurun
- Gx:
+ broad nose, kifoskoliosis, eczema
+ sinopulmonary and cutaneous infection yg tddk terlalu inflamed (cold abscess
es)
+ pneumonias cavitate > pneumatoceles
+ aneurisma a. koroner & cerebral demyelinated plague are common
+ IgE tinggi tapi tdk punya elevated levels of allergy
2. Defek di dedicator of cytokinesis 8 (DOCK8)
- autosom resesif
- IgE elevation is joined to severe allergy, viral susceptibility, increased ra
tes of cancer
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Lab Dx and Management
1. WBC studies and diff count
2. bone marrow
3. bone marrow reserves (steroid challenge test)
4. marginated circulating pool of cells (epinephrine challnege test)
5. marginating ability (endotoxin challenge test)
6. In vivo assessment of inflammation (Rebuck skin window test or in vivo skin
blister asssay): kemampuan leukosit dan mediator invlamasi utk berkumpul di kuli
t
7. In vitro: agregasi, adhesi, fagositosis, degranulasi, microbicidal activity
dari fagosit (utk S. aureus): utk pinpoint cellullar or humoral lesions
8. defisiensi metabolisme oksidatif:
- Nitroblue tetrazolium (NBT) dye test, tes oksidasi dihydrorhodamide (DHR)
- berdasarkan kemampuan produk metabolisme oksidatif mengubah oxidation states
of reporter molecules sehingga bisa dideteksi secara mikroskop (NBT) atau flow
cytometry (DHR)
- studi kualitatif superoksida dan H2O2
Leukopeni/disfungsi leukosit: delayed inflammatory response:
- CGD:
+ AB (kotri) dan antifungi (itrakonazole) profilaksis
+ glukokortiko: utk relieve obstruksi GUT atau GIT
+ hati2 penggunaan TNF-a-blocking agents (me^ suseptibilitas thdp infeksi
+ recombinant human IFN-gamma
= stimulates fungsi sel fagositik
= kurangi frekuensi infeksi CGD (70%) dan kurangi keparahan infeksi
= 50 ug/m2 SC 3x seminggu
= utk leprosy, mycobacteria nonTB, leishmanias visceral
- Oral hygiene: dgn pasta hydrogen peroxide-sodium bicarbonate
+ Job's syndrome: flu, itra, vorico, posaconazole oral utk kurangi kandida muk
okutaneus
- Neutropenia krna produksi V (trmasuk chemo)
+ restore myelopoiesis: G-CSF
+ kalo bone marrow reserve cukup, tdk perlu antibiotik profilaksis
- chronic or cyclic neutrophil <500:
+ AB (kotri atau levo/cipro) dan G-CSF selama neutropenia
 - disfungsi limfosit persisten dan persisten pada kemoterapi sitotoksik
+ AB (kotri utk cegah pneumonia dari pneumocystis jiroveci)
+ pasien2 ini, jg yg dgn disfungsi sel fagositik: hindari heavy exposure to ai
rborne soil, dust, or decaying matter (mulch, manure) (mengandung Nocardia dan
spora aspergillus serta fungi lain)
+ restriksi aktivitas atau kontak sosial tdk berperan dlm mengurangi resiko in
feksi (bagi disfungsi sel fagositik)