Immunodeficiencies

Question 1

Immunodeficiency due to failed B cell Maturation

Answer 1

Bruton’s agammaglobulinemia

Question 2

Bruton’s agammaglobulinemia is due to

Answer 2

Recurrent Bacterial and Enteroviral infection after 6 months

Question 3

Bruton’s agammaglobulinemia is also known as

Answer 3

Bruton’s BTK (Bruton’s Thryosine Kinase) deficiency

Question 4

Bruton’s agammaglobulinemia lab significance

Answer 4

Decrease Immunoglobulins

Question 5

Most common congenital immunodeficiency

Answer 5

Selective IgA immunodeficiency

Question 6

Clinical Significance: Selective IgA deficiency

Answer 6

Majority are ASYMPTOMATIC

Question 7

Laboratory Significance: Selective IgA deficiency

Answer 7

Decrease IgA

Question 8

Impaired B cell differentiation

Answer 8

Common Variable Immunodeficiency

Question 9

Common Variable Immunodeficiency

Laboratory Significance:
Clinical Significance:

Answer 9

Laboratory Significance:
Decrease Immunoglobulin
Decrease Plasma Cells
Clinical Significance:
Occurs around 20-30 yrs of Age due
recurrent bacterial infection

Question 10

• There are presence of normal T cell
• But there is insufficient amount of mature T cells
• T cells are mature and normal but INSUFFICIENT

Answer 10

DiGeorge Syndrome

Question 11

Clinical significance:
- Tetani
- Recurrent Viral and Fungal Infection

Lab Significance:
- Decrease T cell
- Decrease PTH
- Decrease Calcium

Answer 11

DiGeorge Syndrome

Question 12

Condition by which there is deficient Th17 causing IMPAIRED CHEMOTAXIS

Answer 12

Job Syndrome / Hyper IgE syndrome

Question 13

In Job syndrome,

Increased IgE is associated in

Answer 13

Dermatologic problems

Question 14

Lab diagnosis of Job Syndrome:

Answer 14

Increase IgE
Decrease IFN-gamma

Question 15

Most SEVERE congenital immunodeficiency

Answer 15

SCID
Severe Combined ImmunoDeficiency

Question 16

Failture to thrive;
Treatment: BM transplant

Absent germinal center
Absent T cell

Answer 16

SCID
Severe Combined ImmunoDeficiency

Question 17

Impaired repair of Double strand of DNA = CELL CYCLE ARREST

Answer 17

Ataxia Telangiectasia

Question 18

Triple Triad

Ataxia
spider Angioma
IgA deficiency

Increase AFP
Decrease IgA IgG IgE

Answer 18

Ataxia Telangiectasia

Question 19

Class switching defect

Answer 19

Hyper-IgM syndrome

Question 20

Increase IgM
Decrease IgA IgG IgE

Associated w/ Severe pyogenic Infections in early life

Answer 20

Hyper-IgM syndrome

Question 21

Mutation in WAS gene

Answer 21

Wiskott-Aldritch Syndrome

Question 22

Clinical Significance of Wiskot-Aldritch Syndrome

Answer 22

WA-TIE
Thrombocytopenia
Immunodeficiency
Eczema

Question 23

Increase IgE IgA
Fewer or Smaller Platelets

Answer 23

Wiskot-Aldritch Syndrome

Question 24

• Impaired migration and chemotaxis
• defecient in CD18 receptor

Answer 24

Leukocyte Adhesion Deficiency

Question 25

Absent Pus formation
Impaired Wound Healing

Associated with
Increased neutrophils

Answer 25

Leukocyte Adhesion Deficiency

Question 26

Defect in LYST Gene
Dysfunction in fusion of phagosome and Lysosome

Answer 26

Chedlak-HIGAshi Syndrome

Question 27

Usually associated with Recurrent Pyrogenic infection by staphylococci, streptococci

LARGE GRANULES
Pancytopenia

Answer 27

Chedlak-HIGAshi Syndrome

Question 28

Defect in NADPH oxidase
Decrease Respiratory Burst in neutrophils

Answer 28

Chronic Granulomatous Disease

Question 29

A condition by which an individual is prone to have an infection from catalase (+) organism

Answer 29

Chronic Granulomatous Disease

Question 30

Clinical Findings:
- Failure to reduce dye in nitroblue tetrazolium test (NBT)

• Abnormal Dihydrorhodamine Test

Answer 30

Chronic Granulomatous Disease

Question 31

In the clinical diagnosis of Chronic Granulomatous disease, it is much more Objective and Quantitative

Answer 31

Dihydrorhodamine Test