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immunology > lecture 20 & 21-immune deficiencies > Flashcards

lecture 20 & 21-immune deficiencies Flashcards

1
Q

when is an ADA immunodeficiency considered a combined immune deficiency

A

when it affects B, T, and NK cells

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2
Q

what mutation and defect is X-linked agammaglobulinemia due to

A

BTK gene and defect in rearrangement of Ig heavy chain genes

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3
Q

describe the level of Ig in X-linked agammaglubulinemia

A

low/absent IgG, IgA and IgM

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4
Q

what is the main associated feature of X-linked agammaglubulinemia

A

severe bacterial infections

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5
Q

what are the genetic defects of autosomal recessive agammaglubulinemia

A

mutations in mu, Ig-alpha, lambda5 genes and BLNK

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6
Q

describe Ig levels of common variable immune deficiency

A

Low IgG and IgA. Normal/low IgM

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7
Q

what is the typical onset of common variable immune deficiency

A

after 4-5 years of age

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8
Q

what is the pathogenic mechanism involved in IgA secreting B cells

A

disorder of maturation or terminal differentiation

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9
Q

describe Ig levels of IgA deficiency

A

low IgA. Normal IgG and IgM

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10
Q

describe Ig levels of high IgM syndromes (HIGM)

A

high IgM. Low IgG and IgA

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11
Q

what are HIGM characterized by

A

impaired Ig class switching and somatic hypermutation

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12
Q

what are patients with HIGM syndromes more susceptible to

A

bacterial infection

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13
Q

describe Ig levels for isolated IgG subclass deficiency

A

total IgG, IgM, IgA and IgE are normal

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14
Q

what are low levels of IgG2 in children associated with poor responses to

A

poor responses to polysaccharide Ags

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15
Q

what type of infections are common with isolated IgG subclass deficiencies

A

recurrent viral/bacterial infections, frequently in respiratory tract

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16
Q

how long is intrinsic Ig production typically delayed in transient hypogammaglobulinemia of infancy

A

up to 36 months

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17
Q

what is the resulting Ig concentration for transient hypogammaglobulinemia of infancy

A

low IgA and IgG concentration, IgM may be normal or low

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18
Q

what do individuals with transient hypogammaglobulinemia of infancy have an increases susceptibility to

A

sinopulmonary infections

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19
Q

what type of syndrome is wiskott-aldrich syndrome

A

X-linked with progressive decrease in T cells

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20
Q

where is WASP expression limited to in wiskott-aldrich syndrome

A

hematopoietic lineage

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21
Q

what are the main clinical manifestations of wiskott-aldrich syndrome

A

thrombocytopenia, eczema and susceptibility to infections, bruising

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22
Q

describe the Ig concentration for wiskott-aldrich syndrome

A

Low IgM: IgG normal. IgA and IgE elevated

23
Q

what recurrent infections are common with wiskott-aldrich syndrome

A

encapsulated bacterial infections

24
Q

what is the most common form of SCID

A

common gamma chain deficiency

25
Q

what type of deficiency is common gamma chain deficiency

A

X-linked

26
Q

what type of deficiency is adenosine deaminase deficiency (ADA)

A

autosomal recessive

27
Q

what is ADA especially essential for

A

metabolic function of T cells

28
Q

what does ADA lead to accumulation of

A

toxic metabolic by-products: adenosine and deoxy-ATP

29
Q

what type of trait is deficiency of Jak3 due to

A

autosomal recessive trait

30
Q

what type of receptor signaling does deficiency of Jak3 cause

A

defect in IL-2 receptor signaling

31
Q

what type of deficiency is Digeorge syndrome due to

A

T-cell deficiency

32
Q

what is the key biological feature of DiGeorge syndrome

A

hypocalcemia

33
Q

what does neonatal hypocalcemia typically present as in Digeorge syndrome

A

tetany or seizures

34
Q

what are MHC I deficiencies caused by

A

inability of TAP1 molecules to transfer peptides to ER

35
Q

what is the most frequent phagocytic primary immunodeficiency

A

chronic granulomatous disease

36
Q

what is the biochemical cause of chronic granulomatous disease

A

enzymatic deficiency of NADPH oxidase in phagocytes

37
Q

what does the deficiency in chronic granulomatous disease result in

A

defective elimination of extracellular pathogens such as bacteria or fungi; formation of granulomas

38
Q

what are patients with chronic granulomatous disease particular susceptible to recurrent infections with?

A

catalase-positive organisms (ie: staphylococci)

39
Q

what type of disorder is Chediak-higashi syndrome

A

autosomal recessive

40
Q

what is the diagnostic criterion for chediak-higashi syndrome

A

No NK activity and partial albinism

41
Q

what are the granules of chediak-higashi syndrome missing

A

no cathepsin G and elastase

42
Q

what type of infections are individuals with chediak-higashi syndrome prone to

A

recurrent pyogenic infections with bacteria

43
Q

What type of disease is G6PD deficiency

A

X-linked recessive hereditary disease

44
Q

what is G6PD deficiency mostly due to

A

lack of substrate for NADPH

45
Q

what is leukocyte adhesion deficiency mostly due to

A

mutation and lack of expression of LFA-1

46
Q

what is the major clinical manifestation of leukocyte adhesion deficiency

A

delayed detachment of the umbilical cord

47
Q

how do abnormalities in early components of the classical complement pathway typically manifested

A

SLE (but sometimes recurrent sinopulmonary infections)

48
Q

what do people who have deficiencies of the alternative complement pathway usually present with

A

neisserial and other bacterial infections

49
Q

what is factor H deficiency associated with

A

atypical hemolytic uremic syndrome or glomerulonephritis

50
Q

what does C1 esterase inhibitor deficiency cause

A

hereditary angioedema

51
Q

what type of patients typically have decay accelerating factor defects

A

those with paroxysmal nocturnal hemoglobinuria

52
Q

what is the best test for screening for defects in the classical complement pathway

A

total hemolytic complement activity (CH50) assay

53
Q

what is the best test for screening for defects in the alternative complement pathway

A

AH50 assay

immunology (13 decks)

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