Immunodeficiency diseases

Question 1

SCID clinical manifestations

Answer 1

1. Chronic Diarrhea
2. Skin, mouth and throat lesions
3. Oppurtunistic (Fungal) infections

Question 2

Chediak-Higashi Syndrome symptoms

Answer 2

1. Recurrent infections with bacteria: chemotactic and degranulation defect
2. Absent NK activity
3. Partial albinism

Question 3

Job’s Syndrome symptoms

Answer 3

1. Coarse face
2. Cold abscesses
3. Retained primary teeth
4. Increase IgE
5. Eczema

Question 4

Wiskott-Aldrich Syndrome defect

Answer 4

Defect in cytoskeletal glycoprotein

X-linked Combined B-cell and T-cell deficiency

Question 5

Bruton X-linked Hypogammaglobulinemia Symptoms

Answer 5

• Low Ig of all classes
• No circulating B Cells
• B Cell maturation stops at Pre-B Stage

Question 6

Chediak-Higashi Syndrome molecular defect

Answer 6

Granule structural defect

Question 7

MHC 1 deficiency clinical manifestations

Answer 7

1. CD8 T-cell deficient
2. CD4 T-cell normal
3. Recurring viral infections
4. Normal DTH
5. Normal Ab production

Question 8

Ataxia telangiectasia defect

Answer 8

Defect in Kinase involved in the cell cycle

Question 9

CGD molecular defect

Answer 9

NADPH oxidase deficiency causes failure to generate superoxide anion

Question 10

Ataxia telangiectasia clinical manifestations

Answer 10

• Ataxia: Gait abnormalities
• Telengiectasia: Capillary distortions int he eye
• Deficiency of IgA and IgE production

Question 11

CGD symptoms

Answer 11

Recurrent infections with catalase-positive bacteria and fungi

Question 12

DiGeorge Syndrome clinical manifestations

Answer 12

1. Facial abnormalities
2. HyopPTH
3. Cardiac malformation
4. Depression of T-cell number
5. Absence of T-cell response

Question 13

G6PD deficiency molecular defect

Answer 13

Deficiency of essential enzymes in Hexose Monophosphate shunt

Question 14

Bruton X-linked Hypogammaglobulinemia Molecular defect

Answer 14

Deficiency of Tyrosine Kinase blocks B-cell Maturation

Question 15

SCID defect

Answer 15

Common γ chain of IL-2 receptor

X-linked

Question 16

Job’s Syndrome molecular defect

Answer 16

• TH1 cells cannot make IFN-γ
• PMN do not respond to chemotactic stimuli

Question 17

G6PD deficiency symptoms

Answer 17

Same as CGD + Anemia

Question 18

MHC 1 deficiency Defect

Answer 18

Failure of TAP 1 molecules to transport peptides to ER

Question 19

X-linked Hyper-IgM Syndrome molecular defect

Answer 19

Deficiency of CD40L on activated T-cells

Question 20

Wiskott-Aldrich Syndrome clinical manifestations

Answer 20

1. Defective responses to bacterial polysaccharides and depressed IgM
2. Gradual loss of Humoral and Cellular responses
3. Thrombocytopenia
4. Eczema
5. IgA and IgE may be elevated

Question 21

LAD symptoms

Answer 21

Recurrent and chronic infections with failure to form pus and does not reject umbilical cord stump

Question 22

Selective IgA deficiency molecular defect

Answer 22

Deficiency of IgA

Question 23

DiGeorge Syndrome defect

Answer 23

Failure of formation of 3rd and 4th pharyngeal pouches

Question 24

Selective IgA deficiency Symptoms

Answer 24

• Repeated sino-pulmonary and GI infections
• Increase Atopy