Professional Documents
Culture Documents
____ is caused by a defective ATM gene which causes recurrent sinus infections due to a selective IgA deficiency _____ deficiency affects girls and can disrupt the JAK-STAT signaling pathways _____ deficiency is expressed on all WBC
Ataxia-telangietasia (AT)
11.
______ AR disease caused by mutation in the LYST (lysosomal trafficking regulator) gene which results in giant granules seen in cells w/lysosomes ______ are deficient in CD4 T cells and have hypogammaglobulinemia and can lead to SCID
54.
Jak3
44.
55.
BLS type II
36.
______ deficiencies are almost never pure b/c they are necessary for optimal CD8 and B cell function ______ deficiency disrupts signal for VDJ joining ______ deficiency disrupts the preTCR/TCR signaling pathway ______ deficiency may lead to accumulation of dGTP which is toxic more for T cells than B resulting in decreased # of T cells and lymphopenia
T-cell
56.
IL-7Ralpha
CD45
10.
57.
CD3delta/CD3eta
50.
DHR
53.
Jak3
71.
______ manifests as 4 phenotypes: fatal infectious mononucleosis, malignant B cell lymphoma, aplastic anemia, and hypogammaglobulinemia ______ presents with low serum Ig with an unknown cause, and onset when teenager ______ presents with the classic triad of thrombocytopenia, eczema, and blood diarrhea
XLP
42.
________ is caused by mutations in TAP1 or TAP2 genes leading to a MHC Class ___ deficiency ________ syndrome also called SCID with hypereosinophilia is caused by a mutation of RAG1 or RAG2
29.
CVID
58.
61.
Omenn A -ray of a pt that has DiGoerge will reveal a lack of a ________ and low circulating # of ______ cells but normal _____ cell immunity
A _______ defect results in a defective GPI anchor and lack of DAF and HRF20 expression PIGA
41.
63.
_______ gene facilitates actin polymerization which is required for capping and ag-receptor induced proliferative responses _______ is a gamma c chain deficiency of IL-2 receptor with no T-cells and general susceptibility _______ is an AR disorder of neutrophil function from a deficiency of CD18 (also known as LFA-1)
WASP
Thymic shadow; T; B
9.
45.
X-linked SCID
A +ve NBT (nitro blue tetrazolium) test means you are ____ for CGD
negative BLS type I results in ______ cell deficiency with low expression of ______ molecules and low # of peripheral _____ Leukocyte adhesion deficiency (LAD) CTL Chronic granulomatous disease (CGD)
43.
1.
6.
_______ presents with recurrent infections with catalase +ve bacteria b/c unable to kill microbes w/phagocytes
3.
Clinical manifestation of LAD is failure to form ____ and age of onset is _______ with elevated _____ count Deficiency in ______ often goes with IgG 2 deficiency Digeorge is characterized by neonatal _______ and susceptibility to infection due to deficient t-cells Flow cytometery of LAD can present as a _____ deficiency as in LAD II or a ______ deficiency as in LAD I The gene defect in DiGeorge is a _____ deletion If born with a humoral deficiency why won't it show up until later?
2.
In LAD inflammatory responses are not mounted: _______ and ______ do not occur
33.
IgG4
26.
tethering; diapedesis In selective ____ deficiency mucosal defenses are weakened and GI/respiratory infections are common In x-linked _______, T-cells are unable to help B-cells class switch from IgM to IgG and IgA which causes elevated IgM compared to low IgG and IgA In XLA where the btk gene is defective is problematic b/c it encodes a protein which is crucial for _______ IgA
39.
23.
hyper-IGM
5.
40.
18.
IgG subclasses _____ and ____ are important for complement activation In CGD a deficiency of ________ enzyme results in a failure to generate superoxide anions
1 and 3
70.
signal transduction In XLP, the absence of effective T cell control of EBV infection can lead to uncontrolled _______ and _______ sxn The most common form of CGD is the ______ form lymphoproliferation; cytokine
7.
NADPH oxidase
8.
X-linked
68.
The mutant proteins in Btk, BLS I and BLS II are found in diseases dealing with _______ cells The mutant proteins in CD40L, WASP, ATM, SH2D1A, Jak3, and IL-2R are found in diseases dealing with activated ________ cells Of all the complement proteins ____ deficiency is the most serious and usually fatal Omenn syndrome physical presentation with _________ covering entire body at 1 mo. age and elevated ______ ab
20.
People with XLA should/should not receive live vaccines? Physical characteristic of AT is abnormal dilation of __________ in the eye
should not
66.
67.
13.
C3
59.
Primary B-cell deficiency also known as _________ appears mostly in males and results in low circulating B cells (CD19 absent) Pt was fine first 10 months of life, then had recurrent strep skin infections and low IG. He also had no tonsils and complete B-cell absence. What's the likely diagnosis? Pts with B-cell deficiencies present with recurrent septicemia caused by bacteria w/a __________ capsule SCID was first reported in 1950 with infants that had profound _____ and died of infection before their first or second bday
Bruton's agammaglobulinemia
22.
XLA
One histological finding in pts with Hyper-IgM is a lack of _________ in lymph nodes Patients with CHS present with partial _____ and are suseptable to recurrent _____ infections People with IgA deficiency may also present with ______ subclass deficiency IgG2
19.
polysaccharide
germinal centers
12.
albinism; bacteria
46.
lymphopenia $
27.
24.
Significant clinical presentation with X-linked hyper-IgM is increased susceptibility to infection and ______ and should be traved with _______ every 3-4 weeks To test for LAD a _________ is needed which skin is abraded and a cover slip applied to visualize adhered leukocytes, normally you would see _______ Two common defects in CVID are disorganized _____ and low proliferative response to ________ and _______ Two common enzyme deficiencies in SCID are ______ and ______ What's the correct sequence in those with Xlinked SCID? T-/+ B-/+ NK-/+
32.
Those with ____ subclass deficiency suffer recurrent infections and have low levels of IgG for their age compared to normal levels of other Igs Those with _____ can develop mono from infections caused by EBV and is caused by a defect in the SAP-SLAM assoc. protein Those with _____ deficiency will have T-, B-, and NK- and an underdeveloped thymus and accumulation of toxins that affect T cells
IgG
69.
4.
49.
31.
47.
52.
Those with _______ syndrome have an immune deficit caused by hypoplasia of the thymus Those with an ____ subclass deficiency are unable to produce abs when immunized w/polysaccharide vaccines Those with AT may have sensitivity to radiation which leads to defective ________
Digeorge
34.
IgG2
60.
65.
apoptosis
30.
With CVID as far as B and T cells go, they start out with normal _____ but Ig levels decrease with time; and have normal numbers of _____ circulating cells Those with IgA deficiency may develop anaphylaxis when given IgA transfusions because they have made _________ abs Those with SCID have severe B and T cell deficiencies and low serum immunoglobulins which may put them at risk for ___________ pathogens Those with T-cell deficiencies are susceptible from _____ and are commonly infected with _________ Those with WAS are susceptable to infections caused by ________ bacteria like strep pneumoniae and inheritance is _______ recessive Those with X-linked SCID lack benefit from _______ administration and lack _______ on surface of B-cells X-linked __________ syndrome is a primary B-cell deficiency
CD19 (B-cells); CD3 (Tcells) IgE anti-IgA opportunistic (fungal) birth; EBV, varicella or cytomegalovirus encapsulated; X-linked gamma globulin; IL2Rgamma hyper-IgM
28.
48.
37.
62.
51.
17.