ImmunoDef

Question 1

LAD

Answer 1

CD 18 def, lack LFA1 therefore lack tight binding. No Inflamm response leading to recurrent bact infections. Skin test shows no leuk/ flow cyto shows CD18/

Question 2

CGD

Answer 2

NADPH oxidase def X linked, leads to chronic bacterial and fungal infections. Nitro blue test (red cells pos)

Question 3

CHS

Answer 3

Lack LYST, lysosomal traffic def, Partial albinism with recurrent bact infections and impaired NK cell activity. Inclusion bodies present

Question 4

Classical Path

Answer 4

Immune complex disorder and susceptibility to pyogenic bact

Question 5

Alt Path

Answer 5

1. Factor DP def - encapsulated bact (Neiserria) no ICs

2. Factor HI - prevents C3 cleavage

Question 6

C3

Answer 6

Recurrent bact infections with ICs, serious to peds

Question 7

MAC def

Answer 7

Recurrent Neisseiria, and coccal bact infections

Question 8

Hereditary Angioedema

Answer 8

C1 esterase def, AD, No C3 convertase formed and edema at mucosal surfaces

Question 9

XLA (Burtons)

Answer 9

mut in btk gene blocking B cell maturation, lack of heavy chain rearrangement. Ig non detectable in serum with low circ CD19 (B cells) with CD3 cells present. No tonsils or lymph nodes and recurrent staph pneu infections with normal viral responses. Tests = immunoelectroph = lack IgG

Question 10

X linked hyper IgM

Answer 10

CD40L defect on T lymphocytes therefore no class switching of B cells. Suscept to EC bacteria and fungal opportunists. Lymph nodes lack secondary follicles and germ centers

Question 11

AICDD

Answer 11

AR form of XLHIgM lack of Ig somatic hypermutations therefore lack of class switch, lymph node hyperplasia

Question 12

Selective IgA def

Answer 12

B cells cant mature to IgA plamsa cells, mucosal surfaces weakened

Question 13

CVID

Answer 13

low lvls of serum Ig with increased susceptible to sinopulm infections onset at late childhood. Norm CD19 and CD3 but no plasma cells

Question 14

Digeorge

Answer 14

Thymic Aplasia. Recurrent all infections. Low number of CD3 cells, lack thymic shadow. Presents as hypocalcemia and tetany

Question 15

BLS 1

Answer 15

LAck MHC 1 due to mutation in TAP1/2 therefore failure of transport of peptides to ER leading to lack of CD8 cells with norm CD4. Chronic Lung disease at late childhood with rec bact infections

Question 16

BLS 2

Answer 16

no CD4 T cells therefore only IgM produced (Is a SCID)

Question 17

ADA

Answer 17

accum of adenosine and dATP toxic to T and B cells Tx = PEG-ADA or BMT

Question 18

PNP

Answer 18

Purine nucleoside Phosphorylase def leading to accum of dGTP toxic to only T cells. Ataxia with def cell immunity

Question 19

X linked SCID

Answer 19

mut of IL2R-gamma on B cells so T cells cant detect them. Differs from XLA via T lymphocytopenia

Question 20

JAK3 def

Answer 20

no T cell signal 3

Question 21

CD45 (LCA def)

Answer 21

Receptor Tyrosine C def T-B+

Question 22

IL7R-alpha def

Answer 22

sig for VDJ rearrange so T-B+

Question 23

CD3 gamme/epsilon

Answer 23

def TCR signal path

Question 24

Omenn Syndrome

Answer 24

AR mut in RAG1/2 - def VDJ rearrange leading to familial reticuloendoth with eosinophilia. Presents as scaly rash, IgE elevated, no CD19 few CD3. no thymic shadow

Question 25

Wiskott Aldrich

Answer 25

WASP cytoskl protein def. def response to polysacc bact (strep, flu) due to decreased IgM. Triad of thrombocytopenia, eczema due to increased E, and pyogenic infections. WASP needed for T cell interactions

Question 26

AT

Answer 26

AR, def in ATM, prone to rad breaks. IgA and E def. increased rate of neoplasia

Question 27

X linked Lymphoproliferation Syndrome (XLP)

Answer 27

Def in SapSlam path. leads to increased T cell prolif and act and def in B cell memory. CAused by EBV

Question 28

Multiple Myeloma

Answer 28

increased monoclonal IgG with bone reabsorb

Question 29

Waldenstroms Macroglob

Answer 29

monoclonal IgM tumor

Question 30

HIV

Answer 30

Decreased CD4 cells