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Micro > immuno: primary and secondary immune deficiencies > Flashcards

immuno: primary and secondary immune deficiencies Flashcards

1
Q

primary immunodeficencies (congenital, less common)

A 
IgA (1:700)
hereditary angioedema (1:1000)
DiGeorge syndrome (1:3000)
common variable hypogammaglobulineima (1:70,000)
SCID (1:100,000)
X-linked agammaglobulinemia (1:200,000)
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2
Q

causes of secondary (induced) imm. defs

A

malnourishment(world), neoplasia, med interventions*(US): chemo, irradiation, NSAIDs, anti-rheums, cortsters

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3
Q

immunodeficiencies charac. by..

A

inc., persistent, and/or recurrent infections

and by unusual orgs (opportunistic pathogens)

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4
Q

phagocytic deficiencies from infections w.

A

EC pathogens, “opportunists”
S. aureus, S. pneumo, E. coli, Pseudomonas
fungi: candida, Aspergillus

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5
Q

quantitative neutrophil deficiencies: neutropenias

A

det. by absolute neutrophil count, lower ANC, higher inf. risk (inc. if neutropenia persists >3 days)
NR: 2-6000/mm3
mild: 1-1500 mod: 500-1000 sev:

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6
Q

quantitative defs: primary neutrophil deficiency (congenital agranulocytosis, Kostmann’s syndrome)
gene assoc.??

A

almost complete absence mature blood neutros (Abs/granulo transfusions help but eventually succumb
50% ELANE gene (chrom 19)
15% HAX1 gene (chrom 1)
G-CSF, BM transplants

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7
Q

new congenital neutrophil defect syndrome w. homozygous mutations in gene

A

VPS45

neutropenia, neutro dysfunction, nephromegaly

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8
Q

secondary (radiation/chemo induced) neutropenia

also specifically in this ca??

use of ??? allows neutrophil count recovery

??? predominate in a neutropenic pt

A
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9
Q

??? : Abs that attack neutrophils

??? : transient/temp. neutropenia following certain infections

A 
autoimmune neutropenia
cyclical neutropenia (freq: 10^-5, unknown etio)
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10
Q

qualitative neutrophil deficiencies

A

defects in phagocytosis process that limits defense mech

adherence–>chemotaxis–>killing

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11
Q

leukocyte adherence deficiency (LAD)
what integrins?

what is defective/deficient?

how does this limit the leuko?

A

autosomal recessive prim. immdef
mediated by selectins and integrins: CD11a/CD18 and CD11b/CD18
Beta chain of CD18 in LAD1 (chrom. 1) and selectin ligands deficient in LAD2
unable to adhere to endo cells–>inhib. extravasation into extravasc. tissue

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12
Q

LAD consequences ??

also affects nonphagos, how?

A

recurrent bac infections w. abnormal inflammatory reactions and inability to form pus i.e. ST inf, periodontitis
impairs CTL and NK adherence to target cells and Th2 and B cells to form conjugates needed for T cell med B cell help

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13
Q

LAD individuals: lasting consequences ??

tx?

A

impaired wound healing

allogeneic stem cell transplant (cure)

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14
Q

chemotactic defects: lazy leukocyte syndrom

chemotactic signals involved??
manifests similar to ?? cure is ???

A

defect in neutrophil’s response to chemotactic signals, or deficiency in production of those factors:
C3a, C5a, chemokines or chemokine receptors
LAD, cure is allogeneic stem cell transplant

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15
Q

killing defects: chronic granulomatous disease (CGD)

manifests in who??

A

most prevalent primary defect in IC killing of ing. bac
boys in first 2 yrs, X-linked recessive
disseminated granulomatous lesions in various organs–>dies of septicemia by 6,7

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16
Q

CGD genetic defect

A

cytochrome b and NADPH oxidase
also G6PD and myeloperoxidase–>can’t produce H2O2 during phago–>allows survival of catalase-producing bac (S. aureus)
acts as “Trojan horse”: transports pathogen around

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17
Q

CGD tx

what manifests like CGD ???

A

Actimmune (recombinant IFN-y), BM transplant usually req.

myeloperoxidase deficiency

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18
Q

Chediak-Higashi Syndrome

mutation where ??

A

autosomal recessive, phago killing defect
mutation in LYST gene on chrom. 1 (1q42.1-q42.2)
encodes protein for microtublule polymerization
w.out: defect in lysozome generation in function
neutros defective in IC killing and CTLs defective in making lysozomes w. granules and perforins

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19
Q

pts w. Ched-Hig Synd present with ??? in cytoplasm
manifest with ??
unusual appearance?
cure ??

A

granulocytes and platelets w. giant granules
recurrent pyogenic infections (Staph, Strep)
may have silver hair and light colored eyes
BM transplant, can use abx to fight off inf

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20
Q

quantitative humoral immune deficiency: Bruton’s X-linked agammaglobulinemia
affects who ?? how ??
what specific bac ??

A

primary deficiency, level of passively act. maternal IgG declines (6 mos age)
male infants–>severe recurrent bac inf (strep, staph, h. flu) and others that produce anti-phago capsules

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21
Q

Bruton’s X-linked agammaglobulinemia: pts lack ??

defect in ??? gene

have how much circulating immglobulin ??
tx??
does not protect from ??? why ??

A

pts have normal pre-B cell levels, lack mature B cells and plasma cells
defect in BTK gene, involved in B cell rec. cytoplasmic signaling
0-20% normal levels of circ. Igs
gamma globulin (HISG) to protect from bac infections
not much for sinus/pulm/intestinal bac infections, can’t get to mucosal sites

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22
Q

qualitative humoral immune deficiency: X-linked hyper-IgM syndrome
mutation in ???

A

low, no IgG, E, A but elevated IgM

mutation to CD40 ligand gene: on surface of T helper cells, norm. binds to CD40 and initiates B cell prolif, isotope switch and germinal center formation

23
Q

X-linked hyper-IgM syndrome pts also have ???

typ. present with ???

A

autoAbs against neutrophils, platelets, RBCs (note before transfusing!)
pyogenic infections w. staph, strep
OM, septicemia, pneumonia

24
Q

qualitative humoral immdef: IgA deficiency
present with ???

this is more common in these pts ??
may also have ??

A

most common isotype def. 1/600-800 ppl
GI/resp infections, sev. allergies; inc. penetration of allergens at mucosal surfaces–>IgE stimulation
AI disease: lupus, celiac
Abs agains IgA (dangerous when infusing plasma!!)

25
Q

common variable immunodeficiency (qual. humoral)

defects in ???

present with ??? how old ???
tx?

A

normal levels mature B cells, defect in maturation to functional plasma cells
defects in cytokine rec. expression and Th2 cytokine prod. (IL-5)

present w. resp. inf., 20-40 yo
HISG (gamma globulin) to protect from bac inf

26
Q

B or T cell deficiencies more severe?

assoc. with…??

A

T cell: impact both humoral and CMI
inc. susceptibility to viral protozoan, fungal, and opportunistic infections (virus, Mycobacteria, Candida, Pneumocystis) IC pathos

27
Q

quant. primary T cell deficiency: DiGeorge syndrome
(congenital thymic aplasia)

genetic deletion ??

A

dev. of 3rd, 4th pharyngeal pouches 10-12 wks gest–>abnormal thymic dev (some complete athymia), hypoPTH, CV, facial anomalies

deletions in chromosome 22 (22q11.2 region)

28
Q

DiGeorge presentation

tests ??

if complete athymia, req ???

A

repeated viral, fungal, protozoan infections with v. low T cell CD3+ counts
no/low DTH rxn to skin test Ags, dec. response leukocytes to T cell mitogens (PHA and ConA), dec. MLR rxns
thymus transplant (or die around 2)

29
Q

quant. primary T cell deficiency: ZAP70 Deficiency

inheritance?

present with ?? why can’t fight off??

only cure ??

A

Zeta assoc. protein: tyrosine kinase critical for signalling thru T cell rec
autosomal recessive: inherit 2 mutated genes

opportunistic inf. loss of CD8+ T cells, presence of non-func CD4+ (can’t signal thru TCR)
BM transplant

30
Q

qual. primary T cell deficiency: Chronic Mucutaneous Candidiasis
two genetic forms ??

present with ???
tx ??

A

heterogenous group, chronic C. albicans infections
autosomal dominant form: mutations in STAT1
recessive form: mut. in AIRE
def. in T cell ABILITY to respond spec. to candida
skin, nails, mucous mem infections (not disseminated)
anti-fungals, and tx for CMI restoration

31
Q

qual. primary T cell def: Job syndrome (hyper IgE)

A

autosomal dominant
defect in STAT3 gene (chrom. 17q21.31)
failure of CD4+ T cells to become Th17 cells

32
Q

Job syndrome presentation

A

high levels IgE, eczema, recurrent inf. with Staph, Candida, abcesses, pneumonia, retained primary teeth, tissue and blood eosinophilia

33
Q

AIDS (secondary T cell immunodeficiency) mech

A

HIV infects cells w. CD4 marker: T cells and dendritic macros

34
Q

hallmarks of AIDS: latent infection

s/s?

A

+HIV: HIV p24 Ag or Abs, ELISA and western blot +

no s/s, normal CD4+ count (>10^3/mm3)

35
Q

hallmarks of AIDS: progression
“pre-AIDs”/ARC symptoms ???
besides low CD4+ see these labs ???

A

progressive reduction in CD4+ T cells btw 200-500/mm3

FUOs, wl, diarrhea, LAD, fatigue, night sweats

36
Q

in progressing AIDS, besides low CD4+ see these labs ??

A

leukopenia, thrombocytopenia, anemia, hypergammaglobulinemia w. polyclonal Ab prod but loss of sp. Ag responsiveness (no one controlling B cells! (dec. Tregs) but unfocused actions)

dec. response to mitogens
dec. skin test responsiveness (anergy): CMI measure (Ags from Candida, Trichophyton, tetanus, mumps, PPD)

37
Q

AIDS (full-blown)

A

HIV+

38
Q

most common OIs in AIDS pts

A

oral thrush: Candida
chronic or exacerbated oral, ana, genital HSV
CMV
Pneumocystix carinnii pneumonia (PCP, about 50% AIDs pts!)
typical and atypical TB

39
Q

death in AIDS pts when CD4+ falls below..

A

50/mm3

40
Q

combined humoral and CMI defs: reticular dysgenesis

A

rare, fatal congenital def.
goth myeloid and lymphoid stem cells fail to differentiate during hematopoiesis–>NO B cells, T cells, or neutros!
death after birth

41
Q

combined humoral and CMI defs: bare lymphocyte syndrome, 2 types:

labs ??

presentation ??

tx??

A

Type I: no HLA class I expression
Type II: no HLA class I OR II expression
faulty AG presentation to T cells–>no act. T cells develop
affects all adaptive IR
lymphopenia, low T cell # and Ag-sp T cell tests (DTH, MLR) BUT NORMAL mitogen responsiveness
recurrent bac, viral, fungal infections (OIs)
manifests like AIDS
die before 5 unless BM transplant

42
Q

comb hum/CMI def: SCID: severe comb. immunodeficiency

40-50% caused by this genetic mutation

A

depressed B and T cell counts, inc. susc. to infections, wasting, FTT
“bubble baby syndrome”: def. T-dep Abs and CMI
mutation of IL2RG gene on X chrom (XSCID) codes for gamma chain on cytokine receptors: IL-2r, IL-4r, IL-7r
-do not initiate cytoplasmic signaling/activation when bind

43
Q

20% of SCID cases caused by this genetic mutation

A

ADA gene on chromosome 20–> adenosine deaminase: toxic accumulation of metabolites–>loss of B and T cells

44
Q

SCID lab tests ??
CXR ??
presentation ???

tx ??

A

quant/qual depression B and T cells
thymic shadow absent on CXR
constant diarrhea, FTT, thrush, recur. bac, viral, fungal, protozoan inf
HLA-matched BM transplants

45
Q

OMENN syndrome
mutations ?
what’s produced ??

presentation ??
tx ??

A

autosomal recessive form of SCID
mutations in RAG1 and/or RAG2 gene (chrom 11)
no B cells produced, a few T cell clones (auto reactive, excessive)
LAD, eosinophilia, hepsplenmeg
BM transplant

46
Q

comb. hum/CMI def: Wiskott-Aldrich syndrome
mutation ??

occurs when, severity ??
presentation ??

labs ??
tx??
up to 1/3rd develop ??

A

X linked, mutation of gene encoding WASP protein–>cytoskel. reorganization for T cell act. of B cells and macros
impacts lymphos and platelet function
childhood disease, less sev. than SCID
recurring OIs, resp. inf
NORMAL number T, B cells
eczema, def. Ab prod (esp. against carb Ags), thrombocytopenia, small platelets
gamma globulin injections (Ab replacement), BM transplant
AI disease, lymphomas

47
Q

comb. hum/CMI def: Ataxia-Telangiectasia
mutation ??

at risk for ??

A

autosomal recessive
ATM gene on chrom. 11–>repair of dsDNA breaks
low B and T cells (ds breaks happen during dev.)
B cells struggle to switch classes, esp. to IgA
lung inf., inc. risk of leukemia, lymphoma
other organ systems involved (neurological)

48
Q

complement deficiencies

A

primary
affected functions:
Ab (class. compl pathway lysis) and phagocytes (opsonization)

49
Q

deficient in early classic complement components

present with ??

A

C1q, Cqr, C1s, C2, C4

inc. IC disease or rheumatic disease (dec. IC clearance) due to failure to gen. C3b

recurrent inf. w. EC pyogenic bac (staph, strep) due to failure to gen opsonins

50
Q

C3 deficiency manifests w.

A

recurrent EC encapsulated bac inf. and failure to clear ICs–>rheumatic disease

51
Q

alternative pathway deficiencies

A

Factor B, D, H Properdine

inc. incidence of Neisseria, meningococcal inf

52
Q

MAC complement components deficiency

A

C5, C6, C7, C8

recurrent/disseminated inf w. Neisseria meningitidis and N. gonorrhoeae

53
Q

Complement regulatory component deficiencies: hereditary angioedema

tx?

A

defect in C1 inhibitor (chrom. 11):
also reg. Hagemann factor activation and kinin and fibrinolytic system
overprod. of peptides that reg. vasc perm–>fluid leak from vasculature into tissue space
purified C1INH

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