immuno test 3

Question 1

multiple sclerosis

Answer 1

T cell mediated auto immunity-> demylinated CNS tissue
cd4 and cd8 cells and many MHC-II cells
relapse remitting- myelin destroyed then Na channel increase to compensate
others are chronic
previous EBV, Hep B, Adenovirus 2, HLA -DR2 linked`

Question 2

DM1

Answer 2

T cell mediated autoimmunity
CD8 t cell destroy B cells
HLA-A2 presented to CD8 will destroy B cells
may be some Ab function too

Question 3

RA

Answer 3

both Ab and T cell mediated
auto immune disease- chronic inflammation of
onset of fever, fatigue, anorexia, joint pain and swelling
initiated by deposition of IC and chronic inflammation response-> infiltrate of Macrophage, T cell, and plasma cells
ACPA’s and RF( an IgM against IgG) for IC in joint and activate compliment

Question 4

Hashimotos thyroditis

Answer 4

most likely a T cell mediated( type 4 hyper sensitivity)
but there are auto antibodies to thyroid peroxidase and thyroglobulin
dry skin, puffy ace, brittle hair and nails, and constantly cold
HLA_ DR5, DR3, and B8 associated

Question 5

bone marrow transplant and ablation

Answer 5

treatment of scleroderma and SLE

Question 6

MS treatment

Answer 6

IFN-B

humanized antibody against integrin a4 ( natalizumab)

Question 7

immuno deficiency

Answer 7

characterized by increased, persistent, and /or recurrent infections with unusual organisms- opportunistic infections

Question 8

phagocytic deficiencies

Answer 8

infections characterized by opportunistic extracellular pathogens( S. aureus, Strep. pneumo, E COli, pseudomonas) and fungi ( canidida and aspergillis)

Question 9

normal range of PMN in blood

Answer 9

2000 to 6000

Question 10

congenital graulocytosis (kostmanns syndrome)

Answer 10

primary neutrophil deficiency
almost complete absence of peripheral Neutrophils maturation arrest at amyloid progenitor stage
manifest with severe bacteria and fungal infections
G-CSF and bone marrow transplant indicated

Question 11

new congenital neutrophil defect charcteristics

Answer 11

mutation in VPS45 gene, in 7 patients
neutropenia
neutrophil disfunction
nephromegaly

Question 12

secondary neutropenia

radiation or chemo induced neutropenia

Answer 12

quicker recovery

Question 13

qualative deficiency in neutrophils

Answer 13

defect in any point in the process of phagocytosis

1. adherence defect
2. chemotactic defect
3. killing defect

Question 14

Myasthenia Gravis

Answer 14

organ specific auto immunity
Ab produced to the ACh receptors at neuromuscular junction
-drooping eyelids, difficult chew, swallowing and breathing and eventually respiratory failure
some neonates have transient symptoms if mother has dx
HLA-DR3

Question 15

Autoimmune hemolytic anemia (AIHA)

Answer 15

Ab produced to the Rh antigen or I antigen and target RBC for destruction
RBC destroyed by compliment or Mphage phagocytosis
presence of anemia, hemolysis with reticulocytosis, low haptoglobin, ^ LDH, ^IBIL, + direct antiglobin test
warm Hemoglutinnins- IgG class to the Rh antigen at 37C
cold hemaglutinnins- IgM class to the I antigen below 37C

Question 16

SLE pathology

Answer 16

Systemic multi organ autoimmune disease w/Ab to DS DNA
ANA Abs for IC with DSDNA and other nuclear proteins then trapped in BM of Kidney, artery wall, synovium to induce inflammation
compliment deficiency->lack of C3B-> less phag of IC
HLA-DR3 and DR2

Question 17

SLE clinical presentation

Answer 17

fever, joint pain, malar rash, CNS damage, damage to heart and Kidney
women 15-45 10x more than men
diag test ANA indirect fluorescence on HEP-2

Question 18

Scleroderma

Answer 18

systemic autoimmune characterized by fibrosis, arthritis, hair loss, and arteritis
ANA are present, not to DNA or RNA but to DNA and RNA synthesis enzymes-topoisomerase 1 and RNApolymerase1 and sometimes centromeres
more common in women 30-50
diag test ANA indirect fluorescence on HEP-2 with different staining that SLE

Question 19

Sjorgren syndrome

Answer 19

systemic autoimmune disease of the exocrine glands especially salivary and lacrimal
present with dry eyes and dry mouth, 50% OF PTS HAVE ANOTHER AUTOIMMUNE DISEASE
dial-presence of Ab to cytoplasmic agent SS-a(RO) and SS-B(LA) (both are cytoplasmic protein- RNA complexes
detected on elisa/western blot,new research on anti M3Rab

Question 20

Graves disease

Answer 20

Antibody mediated autoimmunity, manifest as hyperthyroid
TSI_ thyroid stimulating immunoglobulin activates the TSH receptor
women 4:1 and presents with low TSH and high T3 and T4
HLA-DR3
can cross the placenta leading to transient hyperthyroid in neonate

Question 21

Goodpastures syndrome

Answer 21

Type 2 hypersensitivity
Abs are produced against the a3chain of the basement membrane collagen(IV collagen)
Ab bind to Renal BM and alveolar BM-> rapid fatal if untreat
Fc portion also ligates Fcgama receptors on monocytes, PMN, tissue basophil, and mast cells ->activation of these cells
also Ab lead to compliment activation to exacerbate injury

Question 22

Congenital Agranulocytosis (Kostmann’s syndrome)

Answer 22

1o phagocytic immunodeficiency, neutrophils
50% B/C OF ELANE(19) gene and 15% B/C HAX1 gene(1)
-Maturation arrest at myeloid progenitor stage
-Manifest with severe bacterial and fungal infections within the first month of life
-Recombinant G-CSF or bone marrow transplant

Question 23

induced Neutropenia

Answer 23

2o phagocytic immunodeficiency

Question 24

LAD

Answer 24

qualitative deficiency
autosomal recessive primary, defect in selectin/integrin binding
LAD1 - defective B chain of integrin CD18(ch1)
LAD2- defective selectin cd11a or cd11b
PMN cannot extravasate to extravascular tissue
recurrent bacterial infection with abnormal inflammation and no pus - soft tissue and periodontitis
ALLOgenic stem cell transplant is only treatment
also can happen in NKand CTL and the interacting with B cells

Question 25

Lazy leukocyte syndrome

Answer 25

primary defect defect in the PMN ability to respond to cheekiness or an inability to produce C3a, C5a Can’t recognize chemotactic signals to leave the vasculature and thus they don’t leave the circ NO PUS ALLOgenic stem cell transplant is only treatment

Question 26

killing defects

Answer 26

Chronic granulomatous disease | Chediak higashi syndrome

Question 27

Chronic granulomatous disease

Answer 27

most prevalent primary defect of iintracell killing X linked recessive, first 2 years of life defect in cytochrome B and NADPH oxidase, also in myeloperoxidase and G6PD Can’t kill phagocytosed pathogens decrease H2O2- allows for the survival of catalase- producing bacteria (e.g. Staph aureus) Actimmune® (r IFN- gamma) but ultimately require allogeneic bone marrow stem cell transplant

Question 28

myeloperoxidase deficiecy

Answer 28

manifest same way as chronic granulomatous disease

Question 29

Chediak higashi syndrome

Answer 29

autosomal recessive primary defect mutatein LYST gene(Ch1)->codes micritubule polymerization defect in producing lysosomes and killing present cells with large granules in cytoplasm resurrent pyogenic infections(staph and strep) (silver hair and eyes BMT required

Question 30

Bruton’s X-linked agammaglobulinemia

Answer 30

primary defect of B cell development, defect BTK gene Block in B cell development at the pre-B cell stage due to inability of mu heavy chain to signal with surrogate light chain, thus severely decreased mature B cell numbers and decreased Ig levels Severe recurrent bacterial infections with Streptococcus pneumonia, Staphylococcus aureus, Haemophilus influenza, and other bacteria that form capsules HISG monthly

Question 31

X-linked hyper- | IgM syndrome

Answer 31

-primary defect, little to no isotope switch -no functional CD40 L to bind to CD40 to induce isotope switch of B cells, so ^^^levels of IgM -also have high levels of auto antibodies to PMN, platelet and RBCs( careful in transfusing) -get Streptococcus, otitis media, septicemia and pneumonia need BMT

Question 32

IgA deficiency

Answer 32

- most common isotope deficiency, little or no IgA in serum - Repeated respiratory and GI infections; tend to have sever allergies and antibodies against IgA (risk of reaction against transfused plasma), also autoimmune dx-SLE and CD - Treat infections as arise (in chronic situations, treat prophylactically); also treat allergies

Question 33

Common variable 1o immunodeficiency (hypogammaglob ulinemia)

Answer 33

-primary deficiency -Significantly low levels of Ig and no plasma cells, but normal B cell numbers defect in cytokine receptor expression and TJ2 cytokines HISG treatment 20-40 w/ recurrent infections of Uand LRT also otitis media, diarrhea, pneumonia, and sinusitis

Question 34

digeorge syndrome

Answer 34

primary defeciency, defect in 3 and4th pharyngeal pouch deletion on the 22 chromosome, facial, hypo parathyroid, and cardiovascular defects decreased CD3 cells Repeated viral, fungal, and protozoan infections; no DTH reaction complete athymia need transplant or die by age 2

Question 35

zap 70 defect

Answer 35

primary defect, autosomal recessive -a tyrosine kinase vital to cell signaling thru TCR -Loss of CD8+ Tcells with non-functional CD4+ T cells BMT is only cure

Question 36

Chronic Mucutaneous Candidiasis

Answer 36

``` no t cells response to Candida infection autosomal dominant STAT1 mutation autosomal recessive AIRE mutation -Present with severe and repetitive candida infections of skin, nails, and mucous membranes without propensity for disseminated disease anti fungal treatment and boost CMI ```

Question 37

Job syndrome

Answer 37

Autosomal dominant STAT3 (ch17) mutation, so that T cells default to Th2’s. Manifest with High IgE, eczema, eosinophilia and recurrent infections Staph aureus and Candida, staph accesses, retained primary teeth BMT treatment

Question 38

bare lymphocyte syndrome

Answer 38

Loss of all CD8+ T cells (types I and II) and/or CD4+ T cells (Type II only) because they cannot be positively selected in the thymus Recurrent opportunistic viral, bacterial, and fungal infections. no antigen specifice t cell response but the is mitten response need BMT

Question 39

SCID

Answer 39

Loss of T cells and B cells. 40% of SCID is caused by mutations in IL2RG and 20% are due to mutations in ADA -Constant diarrhea, failure to thrive, thrush and recurrent viral, bacterial, fungal, and/or protozoan infections BMT

Question 40

OMENN syndrome

Answer 40

autosomal recessive mutation in RAG1 or RAG2( both ch11) no b cells and few t cells that can be auto reactive inability to generate heavy/light chains (B cells) or T cell receptors manifest with lymphadenopathy, eosinophilia, and hepatosplenomegaly need BMT

Question 41

Wiskott-Aldrich syndrome

Answer 41

B cells, T cells,macrophages, X linked - Mutations in WASP protein & results in normal B and T cell numbers, but defective Ab production and killing activity - Eczema, defective Ab production, decreased cytotoxic killing ability. thrombocytopenia and unusually small platelets; increased risk of AI dx and lymphomas - HISG to replace missing Ab, but ultimately a bone marrow transplant

Question 42

Ataxia Telangiectasia

Answer 42

autosomal recessive mutation in inATM gene on ch11 Atm encodes for DNA repair of dsDNA breaks low b and t cell numbers with no class switching, especially IgA Increased susceptibility to pneumonia, and increased risk of leukemia and lymphoma also possible neurologic and other organ system damage BMT needed

Question 43

symptoms of GVH disease

Answer 43

rash, hepato-splenomegaly,lymphadenopathy, anemia, weight loss and wasting, diarrhea