Immunodeficiencies (edited)

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64.

____ 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

Chediak higashi syndrome (CHS)

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.

_____ for CGD is more accurate than NBT

57.

CD3delta/CD3eta

50.

DHR
53.

_____ is the main signal transducer for common gamma chain

nucleoside phosphorylase deficiency PNP

14.

______ is a defect in surface expression of CD55 and CD59

Paroxysmal nocturnal hemoglobinuria

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

Bare lymphocyte syndrome (BLS) type I; I

29.

CVID

58.

61.

Wiskott-aldrich Syndrome (WAS)

15.

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.

T; MHC class I; CD8

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?

pus; 1-2 months; WBC (leukocytosis)

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.

hypocalcemia (secondary to parahypothyroidism)

23.

hyper-IGM

5.

CD15; CD18 22q11

21.

40.

18.

protected with mother's IgG

35.

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.

CD4+ T-cells capillary vessels $

16.

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

scaly rash; IgE

25.

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-/+

neutropenia; IGIV (broad specificity)

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.

X-linked lymphoproliferative syndrome (XLP)

4.

Rebuck skin window; neutrophils

49.

31.

GC; mitogens and antigens

47.

adenosine deaminase and purine nucleoside phosphorylase

adenosine deaminase deficiency ADA

38.

52.

T-, B+, NK-

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.

Which two types of skid are both T- and B-

65.

apoptosis

ADA and Artemis

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.