Immunology Flashcards
X linked agammaglobulinemia is caused by mutation in which gene/protein
Brutons tyrosine kinase BTK
When does x linked agammaglobulinemia present
6 months when mothers immunoglobulins run out
X linked agammaglobulinemia. Maturation arrest at which stage of development of b cell
Pre b cell. Thus cannot mature and cannot go out into peripheral blood.
MPA and GPA (wegener)
MPA associated with MPO /p-ANCA
GPA associated with Proteinase 3 / c- ANCA
Chronic granulomatous disease
Dihydrorhodamine test
Hyper IgE clinical presentation
Pruritic eosinophilic dermatitis
staph abscesses
Sinopulmonary infections
Osteopenia
Clinical presentatin hyper IgM
PCP
Onset before 6 months suggests
T cell
Onset at 6 to 12 months suggests
combined B- and T-cell defects
or a B-cell defect
which becomes evident when maternal antibodies are disappearing (at about age 6 mo).
Onset much later than 12 months
B-cell defect or secondary immunodeficiency.
Wiskott aldrich
Thrombocytopenia
Eczema
Immune deficiency
X linked
Neisseria infection
Certain complement disorders
Chronic granulomatous disease lab findings
Flow cytometric
oxidative (respiratory) burst measurement
using dihydrorhodamine 123 (DHR) or nitroblue tetrazolium (NBT)
can detect whether oxygen radicals are produced during phagocytosis;
no production is characteristic of chronic granulomatous disease
Cervical LN, adenoid, tonsils are small in
X-linked agammaglobulinemia, X-linkedhyper-IgM syndrome,
severe combined immunodeficiency(SCID), and other T-cell immunodeficiencies
Low IgG caused by
Nephrotic syndrome
Protein losing enteropathy
Conplement testing
CH50 - classical
AH50 - alternative
How to prevent GvHD post transfusions
use blood products from CMV-negative donors; Leukodepletion and irradiated (15 to 30 Gy).
Chediak higashi syndrome
iant lysosomal granules develop in neutrophils
Occulocutaneous albinism
Recurrent resp and other bacterial infections
LyST mutation
Phagocytic cell defect
Hyper IgE mutstions
Autosomal dominant
Stat3
Autosonal recessive
Tyk2
Dock8
Hyper IgE treatment
Bactrin prophylaxis
Interferon gamma for life threatening infections
Monitor bone health
Omenn syndrome inheritance
Autosomal recessive
Form of scid
Omenn syndrome clinical features
Erythroderma
Diarrhea
FTT
Omenn syndrome genetics
Rag 1 or 2 mutation
–> impairment of V(D)J recombination
Omenn syndrome lab
Oligoglonal expansion of t cell (cause hepatosplenomegaly/LN) and ABSENT b cells
Hypogammaglobulinemia
Paradox: high IgE level and eosinophils
