Immuno Deficiencies Flashcards Preview

Pathology Review COPY > Immuno Deficiencies > Flashcards

Flashcards in Immuno Deficiencies Deck (30)
Loading flashcards...
1

Bruton x linked agammaglobulinemia

Defect

Clinical manif (3)

Btk gene ch xq21.22
Brutons tyrosine kinase

B cells stay as progenitor cells: no plasma cells; no germinal centers

After 5 months: when maternal IG is gone; Enterovirus, respiratory inf, giardia

2

SCID mutation x2

Labs

Clinical

Treatment

Xlinked cytokinecreceptor deficinecy ; Autosomal recessive ADA def

No Tcell; both CTL and THelper; low T cell, low antibodies

Oral trush; GVHD; HIV like

Hsc transplant

3

Di george mutation

Clinical PE

Lab

Pathology

Chromosome 22; TBX1 gene; branchial arch 3 and 4

No thymus, no PALS, no paracortical area

Low t cell count; normal to low Ig (depends on which t cell is gone)

Fungal and viral; cardiac abnormality abnormal facies thymic hypoplasia cleft lit hypocalcemia


4

Hyper IgM syndrome

Defect

Labs

Clinical

X linked cd40 defect

B cell cant class switch; tcells dont secrete il4-5

High igm low iga igg ige

Clinical: PYOGENIC infections (no IgG no opsonization)

5

CVID

Defect

Lab

Clinical

b and t cell defects??

Hypogammaglobulinemia all classes

Like brutons; diagnosis of exclusion

6

IgA deficiency

Defect

Clinical: respiratory infections

Most common primary immunodeficiency

Dec serum iga

(Mucosal infections) Respiratory infections, GIT and GUT infections

Cant give iga replacement;

7

Wiskott aldrich syndrome

Defect

Triad

Labs

X linked xp11 WASP protein

Thrombocytopenia Infections Eczema

Paradoxical: low IgM, normal IgG increased IgA and IgE

8

Ataxia telangiectasia

Mutation

Triad

Clinical

ATM gene ch11

Ataxia
Vascular malformations
Neurologic deficit

Thymic hypoplasia; Iga and igg deficiency respiratory tract infections

9

HIV

Genus
Family

Attach
Fusion

Possible cure??

Lenvtivirus
Retroviridae


Cd120
Cd41

CCR5

10

HIV

Illness 1
2
3

Neoplams
1
2

Cns
1

Candidiasis
Toxoplsma gondii cns mass lesion
Cmv retinitis <50

B cell lymphoma sec to EBV
Kaposi sarcoma (KHSV HHV8)

11

1.SLE pathology

2.Specific test
Screening test

3.Which corrlares with disease activity

4.Which corrleates with congenital heart block

5.Type of valve problem

Loss of self tolerance

Anti dsdna anti smith
ANA

Anti dsdna

Anti ro anti la

Libmansacks endocarditis

12

1. Sjogren syndrome main pathology

2. Triad

3. Autoantibodies

4. Diagnosis

1.Autoimmune Destruction of lacrimal and salivaryglands

2.Dry eyes dry mouth cavities

3.Anti ro SS A anti La SS B (target ribonucleoprotien)| RF | ANA

4. Lip biopsy

13

In sjogren syndrome

1. Bilateral inflammation of the parotid glands + then unilateral growth of one of them may have?

2. Early glands
Late glands

3. DIFFERENTIAL of ss

4. Is usually associated with which other autoimmune disease?

B cell lymphoma

Lymphocytic infiltration
Fibrosis

Mikulicz syndrome: lacrimal and salivary inflammation due to any other cause

Rheumatoid arthritis

14

Scleroderma

Triad

Common clinical pres

Death is caused by?


Chronic inflammation
Small blood vessel damage
Progressive skin fibrosis and multiple organs

Raynauds phenomenon + skin thickening

Pulmomary hypetension cause of death
Oliguria scleroderma renal crisis

15

Diffuse scleroderma

Patho

Widspread skin involvement plus early visceral involvement

Anti DNA topoisomerase I antiscl70

16

Limited scleroderma

Patho

CREST syndrome

Calcinosis, raynauds phenomenon, esophageal dysmotility, sclerodactyly, telangiectasia

Anti centomere

17

Sclerodema renal crisis

Anti RNA polymerase III

18

Scleroderma

Skin morpho = loss of _____ , ____ thckening of dermal vessels

Joints look like _____ but without ____

Rete ridges, hyaline

RA, destruction

19

Mixed connective tissue disease clincal

Autoantibody

Mixed features of SLE, systemic sclerosis

U1 RNP

20

Gell and coombs hypersensitivity classification

1. Myasthenia gravis
2. Graves disease
3. Insulin resistant diabetes
4 .pernicious anemia

Type II

1. Antibody vs ach receptor
2. Antibody vs TSH receptor
3. Antibody vs Insulin receptor
4. Antibody vs intrinsic factor

21

Gell and coombs classification

Autoimmune hemolytic anemia
Autoimmune thrombocytopenic purpura

Type II

1. RH antigen = opsonization and phagocytosis of RBCs
2. Gp IIb IIIa antigen = opsonization and phagocytosis of platelets

22

Acute rheumatic fever gell and coombs type

PSGN gell and coombs type

1. Type II hypersensitivity
2. Type III hypersensitivity

23

Gell and coombs classification

1. RA
2. MS
3. Type1 DM
4. Contact derm
5.IBD
6.psoriasis

Type IV

1. TH1, TH17 destruction of joints
2. Myelin destruction via macrophages
3. CD8 desturction of islets
4. Cytokine mediated inflammation of skin
5. Cytokine mediated inflammation of GI mucosa
6. TH17 mediated inflammation of skin

24

Gell and coombs classification
1. Autoimmune hemolytic anemia
2. Autoimmune thrombocytopenic purpura
3. Pernicious anemia
4. MG
5. Graves disease
6. Goodpasture
7. SLE
8. Type 1 DM
9. MS
10. RA

1-6. Type II
7. Type III
8-10: Type IV

25

In SLE

1.ANA is for?
2. Anti SM, anti dsDNA for?
3. anti Ro, Anti La for?

1. Screening
2. Disease activity
3. Correlation with congenital heartblock

26

Fibrinoid necrosis is associated with which gell and coombs type?

1. Type III

27

Hyperacute kidney rejection onset and mechanism

Onset: minutes to hours after
Mech: antibody mediated (preformed anti donor antibodies)
Type II, Type III

28

Acute cellular kidney rejection

Onset: months or years after cessation of immunosuppresion
Mechanism : cell mediated type I, Type II

29

What is the setup in GVHD?

1. Patient undergoes chemo / radiotherapy to weaken own immune system
2. Donor immune cells in graft attacked new host.

30

What disease?

+ congo red,
Apple green birefringence on polarized light

Amyloidosis
- excessive beta sheet proteins
- kidney (nephrotic syndrome)
- spllen