Immunodeficiency

Question 0

Low levels of all immunoglobulins due to tyrosine kinase mutation

Answer 0

Bruton’s disease

B cell

Question 1

B cell disorders

Answer 1

X Linked Hypogammaglobulinemia or Bruton’s Disease
Selective IgA deficiency
Common Variable deficiency

Question 2

6 month old male with recurrent pyogenic bacterial (S pneumoniae and H influenzae) and enteroviral infections

Answer 2

Bruton’s disease

Pooled gamma globulin

Question 3

Failure of isotype switching

Answer 3

Selective IgA deficiency

B cell

Question 4

Recurrent bacterial sinus and lung infections

Answer 4

Selective IgA deficiency

Question 5

Defect in B cell maturation

Answer 5

Common Variable Immunodeficiency

B cell

Question 6

Most common form of severe antibody deficiency

Answer 6

CVID

Pooled gamma globulin

Question 7

T cell disorders

Answer 7

DiGeorge

Chronic mucocutaneous candidiasis

Question 8

Failure of development of thymus and parathyroids due to defect in 3rd and 4th pharyngeal pouches

Answer 8

DiGeorge
T cell
Transplant of fetal thymus

Question 9

CATCH 22

Answer 9

Cardiac TOF
Abnormal facies
Thymic aplasia
Cleft palate 
Hypocalcemia 
22q11.2 chromosomal deletion

Question 10

Recurrent candidiasis in children

Answer 10

Chronic mucocutaneous Candidiasis

Azole

Question 11

Combined B and T cell

Answer 11

SCID
Wiskott-Aldrich
Ataxia- Telangiectasia

Question 12

SCID
X linked
Autosomal

Answer 12

Gamma chain/IL-2 receptor gamma

Adenosine deaminase deficiency

Question 13

Recurrent viral, bacterial, fungal and protozoal infection at 3 months of age

Answer 13

SCID
Plastic bubble
BM transplant

Question 14

Inability to mount IgM response

Answer 14

Wiskott Aldrich

B and T cell

Question 15

Wiskott Aldrich

Symptomatology

Answer 15

TIE Me a WASP
Thrombocytopenia
Infections
Eczema

Question 16

Mutations in DNA repair enzymes

IgA deficiency

Answer 16

Ataxia-Telangiectasia

B and T cell

Question 17

Ataxia
Telangiectasia
Infections before 2 yo

Answer 17

Ataxia Telangiectasia

BM transplant

Question 18

Phagocyte disorders

Answer 18

Chronic Granulomatous Disease
Chediak Higashi
Leukocyte Adhesion deficiency

Question 19

Lack of NADPH oxidase activity

Answer 19

Chronic Granulomatous Disease

Phagocyte

Question 20

Recurrent infections with catalase positive bacteria and fungi (A fumigatus)
Widespread granulomas

Answer 20

Chronic Granulomatous Disease

Question 21

Failure of phagolysosomal fusion

Faulty microtubules

Answer 21

Chediak Higashi

Question 22

Delayed separation of umbilical cord

Answer 22

Leukocyte Adhesion Deficiency

Phagocyte

Question 23

C1 deficiency leading to increased C3a and C5a

Answer 23

Hereditary angioedema

Complement

Question 24

Widespread angioedema | Fatal larngeal edema

Answer 24

Hereditary angioedema | Corticosteroids

Question 25

Most common complement defect

Answer 25

C2 deficiency

Question 26

Bacteremia with Neisseria

Answer 26

Terminal Complement Deficiency Cannot form MAC Vaccination

Question 27

Hemoglobinuria upon waking up

Answer 27

PNH

Question 28

Deficiency of decay accelerating factor

Answer 28

PNH

Question 29

AIDS | Screening test

Answer 29

ELISA | Anti gp120

Question 30

AIDS | Confirmatory test

Answer 30

Western blot | P24 antigen and gp41 antibodies

Question 31

AIDS | Monitoring immune status

Answer 31

CD4 Count

Question 32

AIDS Test for active replication Marker for progression Most sensitive test for acute HIV before seroconversion

Answer 32

HIV viral load

Question 33

CD4<500

Answer 33

M tb HSV Candida albicans HHV-8

Question 34

CD4<200

Answer 34

``` PCP Toxoplasma gondii Cryptococcus neoformans Coccidioides immitis C parvum ```

Question 35

CD4<50

Answer 35

M aviun Histoplasma capsulatum CMV

Question 36

Marked follicular hyperplasia with viral DNA in the nuclei of CD4 cells in the LN

Answer 36

Early AIDS

Question 37

Burnt out lymph nodes - follicular depletion - disrupted organization

Answer 37

Late AIDS

Question 38

``` Amyloidosis proteins Primary Secondary Senile cardiac T2-DM associated Medullary thyroid ```

Answer 38

``` AL from light chain AA from acute phase reactants Transthyretin from AF old folks Amylin from AE endocrine A-CAL from calcitonin ```

Question 39

Amyloidosis | Tissue biopsy

Answer 39

Abdominal fat aspirate

Question 40

Most common and serious form of amyloidoses

Answer 40

Renal amyloidosis

Question 41

Tapioca like granules in the splenic follicles | Map like areas in walls of splenic sinuses

Answer 41

Sago spleen Lardaceous spleen Amyloidosis