immune deficiencies Flashcards
no B cell maturation, incr incidence in boys, recurrent bacterial and enteroviral infections after 6 months. what is absent?
x-linked (bruton) agammaglobinemia; CD19+ B cell is absent
x-linked (bruton) agammaglobinemia d/t defect in?
BTK, a tyr kinase
most common primary immunodeficiency
selective IgA deficiency
generally healthy, with recurrent sinus and lung infxns, atopy, asthma
selective IgA deficiency
major risk assc’d with selective IgA deficiency
anaphylaxis to Ig-A containing blood products
22q11 deletion
thymic aplasia (digeorge)
tetany, recurrent viral/fungal infxns
thymic aplasia (digeorge)
which type of conotruncal abnormalities are assc’c with digeorge syndrome?
tetralogy of fallot or truncus arteriosus
noninvasive candida infxns of skin and mucous membranes
chronic mucoutaneous candidiasis
chronic mucoutaneous candidiasis is d/t
t cell dysfxn
hyper-IgM syndrome d/t defective____
CD40L on Th cells
most common mode of inheritance of hyper-IgM syndrome
x-linked recessive
incr susceptibility to mycobacterial and fungal infxns
IL-12 receptor deficiency
adenosine deaminase deficiency
SCID
chronic mucocutaneous candidiasis, recurrent RSV, VZV, HSV, measles, flue, parainfluenza, PCP, chronic diarrhea, FTT
SCID
absent thymic shadow in what dz (2)
- digeorge syndrome
2. SCID
immunodeficiency, thrombocytopenic purpura, eczema, recurrent infxns
wiskott aldrich syndrome
which Ig level is decr in wiskott aldrich syndrome
IgM, IgG
x-linked immunodeficiencies (4)
- wiskott aldrich
- bruton agammaglobulinemia
- chronic granulomatous dz
- hyper IgM syndrome
cerebellar ataxia and poor smooth pursuit of moving target, IgA deficiency, telangiectasias on face
ataxia-telangiectasia
ppl with ataxia-telangiectasia have an incr risk of?
lymphoma & acute leukemias
elevated AFP assc’d with which immune deficiency
ataxia-telangiectasia
lack of nadph oxidase activity
chronic granulomatous dz
chronic granulomatous dz characterized by incr susceptbility to what types of pathogens?
catalase+
