Primary Immunodeficiency Diseases

Question 1

Chronic granulomatous disease is what type of immunodeficiency disease?

Answer 1

Innate

Question 2

Leukocytes Adhesion Deficiency-1/2 disease is what type of immunodeficiency disease?

Answer 2

Innate

Question 3

Chediak-Higashi syndrome disease is what type of immunodeficiency disease?

Answer 3

Innate

Question 4

X-linked and Autosomal recessive SCID disease is what type of immunodeficiency disease?

Answer 4

Lymphocyte maturation

Question 5

X-llinked agammaglobulinemia disease is what type of immunodeficiency disease?

Answer 5

Lymphocyte maturation

Question 6

DiGeorge syndrome disease is what type of immunodeficiency disease?

Answer 6

Lymphocyte maturation

Question 7

Selective Ig deficiency disease is what type of immunodeficiency disease?

Answer 7

Lymphocyte maturation

Question 8

X-linked and Autosomal hyper-IgM syndrome disease is what type of immunodeficiency disease?

Answer 8

lymphocyte activation and function

Question 9

Common Variable Immunodeficiency disease is what type of immunodeficiency disease?

Answer 9

Lymphocyte activation and function

Question 10

What is Wiscott-Aldrich syndrome?

Answer 10

X-chromosome protein Wiskott-Aldrich Syndrome protein (WASp) so a defect in signaling in T&B cells from cell membrane to cytoskeleton. Can have platelet abnormality.

Question 11

What are TRECs and what stage of T cell development does it affect?

Answer 11

In VDJ recombination from Pro to Pre T-cell stage and found in mature T-cells so SCID will not have this

Question 12

γc mutations are found in what immunodeficiency disease

Answer 12

X-linked SCID

Question 13

What major cytokine is a major player in X-linked SCID

Answer 13

IL-7 a proliferation signal in Pro-Tcells

Question 14

What enzymes are defective in Autosomal severe Combined Immunodeficiency?

Answer 14

ADA and PNP

Question 15

What would happen to to B and T cells if RAG 1 and RAG 2 had mutations

Answer 15

This is a Autosomal SCID and unable to express functional Pre BCR/TCR leading to apoptosis

Question 16

What protein is defective in X-linked agammaglobulinemia and what infection is expected?

Answer 16

BTK and encapsulated bacteria

Question 17

What immunodeficiency cells would be in Digeorge syndrome?

Answer 17

Decreased T cells and normal Bcells but normal or reduced Ig (SCID)

Question 18

What are the clinical aspects of DiGeorge Syndrome?

Answer 18

mnemonic CATCH 22
C- Cardiac defect
A - abnormal facial features
T- Thymic hypoplasia (3rd and 4th pharyngeal pouch absent
C - Cleft palate
H - hypocalcaemia
22- deletion in 22q11.2

Question 19

What is the different about Common Variable Immunodeficiency?

Answer 19

Late onset so usually dx as an adult

Question 20

What is abnormal about Hyper IgM syndromes?

Answer 20

Failure of class switching of IgM and somatic mutation, lack of memory B cells. Decreased B cells

Question 21

What is the cause of Hyper IgM syndrome 2

Answer 21

mutation in AID so you can have differentiation in IgG or IgE

Question 22

What is the treatment of all Hyper IgM syndromes?

Answer 22

IVIG replacement and antibiotic prophylaxis

Question 23

What type of inheritance is Hyper IgM 2 and 3 syndrome (HIM2/3)

Answer 23

Autosomal

Question 24

What type of inheritance is Hyper IgM 1 (HIM1)

Answer 24

X-linked

Question 25

What type of mutation is found in HIM1

Answer 25

Mutation in CD40L (HIM1)

Question 26

What type of mutation is found in HIM3

Answer 26

Mutation in CD40

Question 27

What is the result of HIM syndromes

Answer 27

Weak B/T cell interactions because of defective class switching and so cell-mediated immunity (T to macrophage interaction)

Question 28

What is mutated in Chronic Granulomatous disease? And how is it inherited

Answer 28

Phagocyte NADPH oxidase (X-linked)

Question 29

What happens in Chronic Granulomatous Disease?

Answer 29

Inability of phagocytes to destroy certain bacteria and so constant T cell stimulation of macrophages leading to granuloma formation

Question 30

What is the prognosis of Chronic Granulomatous Disease?

Answer 30

Average patient survives at least until 40 years of age

Question 31

What type of inheritance is Chediak-Higashi Syndrome?

Answer 31

Autosomal recessive

Question 32

What is the functional defect in Chediak-Higashi Syndrome?

Answer 32

defective lysosomal function in neutrophils, macropahges and dendritic cells and defective granule function in NK cels

Question 33

What clinical aspects do you see in Chediak-Higashi Syndrome?

Answer 33

Oculocutaneous albinism (reduce pigmentation in iris), Coagulation defects and progressive neurological deterioration

Question 34

What is the prognosis of Chediak-Higashi Syndrome?

Answer 34

Without transplant death of bacteria infection before 7 years of age and severe neurological defect by 20 y.o.

Question 35

What type of inheritance is Leukocyte Adhesion Deficiencies (LAD)?

Answer 35

Autosomal recessive

Question 36

What is the functional defect Leukocyte Adhesion Deficiencies (LAD)?

Answer 36

Failure of neutrophil recruitment to site of infection

Question 37

What disease is seen Complement deficienceies in Early Classical Pathway (C1q,C1r,C1s,C4,C2)

Answer 37

SLE

Question 38

What infections in Complement Late Classical Pathway (C3-C9)

Answer 38

Infections esp. Pneumococcal and H. Influenzae (C3) Neisseria (C5-c9: MAC)

Question 39

What infection in Complement of Alternative pathway?

Answer 39

Neisseria infections esp. meningitis

Question 40

What type of inheritance is for Complement deficiencies?

Answer 40

Autosomal recessive

Question 41

What is important for people that are heterozygous for complement deficiencies?

Answer 41

Generally asymptomatic

Question 42

In LAD2 what molecule is defected and what is the molecule used for?

Answer 42

selectins (rolling)

Question 43

In LAD1 what type of molecule is defective? and what is the molecule used for?

Answer 43

integrins (adhesion)

Question 44

What clinical features is seen in Wiskott-Aldrich syndrome

Answer 44

mnemonic TIE, Thromboncytopenia recurrent sinopulomary infections, eczema. IgM and IgG levels will be low

Question 45

What type of immune cell fails to mature in Common variable immunodeficiency

Answer 45

B cell into a plasma cell

Question 46

Having no IgG but normal T cell levels is found in what type of disease

Answer 46

X-linked agammaglobulimia