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Immunology > Primary Immunodeficiency Diseases > Flashcards

Primary Immunodeficiency Diseases Flashcards

1
Q

Chronic granulomatous disease is what type of immunodeficiency disease?

A

Innate

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2
Q

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

A

Innate

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3
Q

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

A

Innate

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4
Q

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

A

Lymphocyte maturation

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5
Q

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

A

Lymphocyte maturation

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6
Q

DiGeorge syndrome disease is what type of immunodeficiency disease?

A

Lymphocyte maturation

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7
Q

Selective Ig deficiency disease is what type of immunodeficiency disease?

A

Lymphocyte maturation

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8
Q

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

A

lymphocyte activation and function

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9
Q

Common Variable Immunodeficiency disease is what type of immunodeficiency disease?

A

Lymphocyte activation and function

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10
Q

What is Wiscott-Aldrich syndrome?

A

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.

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11
Q

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

A

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

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12
Q

γc mutations are found in what immunodeficiency disease

A

X-linked SCID

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13
Q

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

A

IL-7 a proliferation signal in Pro-Tcells

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14
Q

What enzymes are defective in Autosomal severe Combined Immunodeficiency?

A

ADA and PNP

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15
Q

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

A

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

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16
Q

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

A

BTK and encapsulated bacteria

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17
Q

What immunodeficiency cells would be in Digeorge syndrome?

A

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

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18
Q

What are the clinical aspects of DiGeorge Syndrome?

A 
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
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19
Q

What is the different about Common Variable Immunodeficiency?

A

Late onset so usually dx as an adult

20
Q

What is abnormal about Hyper IgM syndromes?

A

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

21
Q

What is the cause of Hyper IgM syndrome 2

A

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

22
Q

What is the treatment of all Hyper IgM syndromes?

A

IVIG replacement and antibiotic prophylaxis

23
Q

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

A

Autosomal

24
Q

What type of inheritance is Hyper IgM 1 (HIM1)

A

X-linked

25
Q

What type of mutation is found in HIM1

A

Mutation in CD40L (HIM1)

26
Q

What type of mutation is found in HIM3

A

Mutation in CD40

27
Q

What is the result of HIM syndromes

A

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

28
Q

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

A

Phagocyte NADPH oxidase (X-linked)

29
Q

What happens in Chronic Granulomatous Disease?

A

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

30
Q

What is the prognosis of Chronic Granulomatous Disease?

A

Average patient survives at least until 40 years of age

31
Q

What type of inheritance is Chediak-Higashi Syndrome?

A

Autosomal recessive

32
Q

What is the functional defect in Chediak-Higashi Syndrome?

A

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

33
Q

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

A

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

34
Q

What is the prognosis of Chediak-Higashi Syndrome?

A

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

35
Q

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

A

Autosomal recessive

36
Q

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

A

Failure of neutrophil recruitment to site of infection

37
Q

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

A

SLE

38
Q

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

A

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

39
Q

What infection in Complement of Alternative pathway?

A

Neisseria infections esp. meningitis

40
Q

What type of inheritance is for Complement deficiencies?

A

Autosomal recessive

41
Q

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

A

Generally asymptomatic

42
Q

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

A

selectins (rolling)

43
Q

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

A

integrins (adhesion)

44
Q

What clinical features is seen in Wiskott-Aldrich syndrome

A

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

45
Q

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

A

B cell into a plasma cell

46
Q

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

A

X-linked agammaglobulimia

Immunology (6 decks)

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