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MAD > immunodeficiencies > Flashcards

immunodeficiencies Flashcards

1
Q

caused by dysfunction of phagocytes

A

leukocyte adhesion deficiency
chediak-hagashi syndrome
chronic granulomatous disease

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2
Q

leukocyte adhesion deficiency mechanism

A

defect in LFA-1 integrin (CD18) on phagocytes

leads to impaired neutrophil migration

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3
Q

leukocyte adhesion deficiency clinical presentation

A

absence of neutrophils at infection site

delayed detachment of umbilical cord, no pus, impaired wound healing, recurrent skin and mucosal bacterial infections

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4
Q

Chediak-Hagashi syndrome mechanism

A

defect in lysosomal trafficking regulator gene (LYST)

microtubule dysfunction in phagosome-lysosome fusion

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5
Q

Chediak-Hagashi syndrome clinical presentation

A

partial albinims, peripheral neuropathy

giant granules in platelets and PMNs

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6
Q

chronic granulomatous disease mechanism

A

defective NADPH oxidase (failure to generate oxygen radicals for respiratory burst in neutrophils)

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7
Q

caused by dysfunction of B cells

A

x-linked agammaglobulinemia (Bruton’s agammaglobulinemia)
selective IgA deficiency
common variable immunodeficiency

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8
Q

x-linked agammaglobulinemia mechanism

A

defect in BTK gene leading to lack of B cell maturation

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9
Q

x-linked agammaglobulinemia clinical presentation

A

recurrent bacterial and enteroviral infections, absent/scanty lymph nodes and tonsils, absent B cells, decreased immunoglobulins

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10
Q

common variable immunodeficiency mechanism

A

defect in B cell differentiation

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11
Q

common variable immunodeficiency clinical presentation

A

low plasma cells, low immunoglobulins, delayed presentation (due to Ig’s from mother)

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12
Q

caused by dysfunction of T cells

A 
IL-12 receptor deficiency
Job syndrome
Chronic mucocutaneous candidiasis
Thymic aplasia (diGeorge syndrome)
Autoimmune polyendocrinopathy syndrome (APECED)
IPEX syndrome
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13
Q

IL-12 receptor deficiency mechanism

A

leads to lack of Th1 cell response and low IFN-gamma

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14
Q

Job syndrome mechanism

A

hyper-IgE syndrome

Th17 deficiency leads to an impaired ability to recruit neutrophils to the site of infection

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15
Q

Job syndrome clinical presentation

A

FATED- abnormal facies, staph abscesses, retained primary teeth, hyper-IgE, dermatologic issues (eczema)
elevated IgE and eosinophils, decreased IFN-gamma

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16
Q

chronic mucocutaneous candidiasis mechanism

A

T cell dysfunction (often a defect in IL-17 pathway)

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17
Q

chronic mucocutaneous candidiasis clinical presentation

A

noninvasive candida infections of skin and mucous membranes

18
Q

thymic aplasia (diGeorge syndrome) mechanism

A

22q11 deletion leading to an absent thymus and parathyroids

19
Q

thymic aplasia (diGeorge syndrome) clinical presentation

A

CATCH-22- cleft palate, abnormal facies, thymic aplasia (T cell deficiency), conotruncal abnormalities, hypoglycemia
low Ca2+, absent thymic shadow, decreased T cells and PTH

20
Q

Autoimmune polyendocrinopathy syndrome (APECED) mechanism

A

mutation in AIRE gene leads to ineffective negative selection of T cells

21
Q

IPEX syndrome mechanism

A

deficiency of FOXP3 leading to non-functional regulatory T cells

22
Q

caused by dysfunction of B and T cells

A

Severe combined immunodeficiency (SCID)
ataxia-telangctasia
Wiskott-Aldrich syndrome
Hyper-IgM syndrome

23
Q

Severe combined immunodeficiency (SCID) mechanism

A

defective IL-2 receptor or defective adenosine deaminase (leads to buildup of purines which is toxic to lymphocytes)

24
Q

Severe combined immunodeficiency (SCID) clinical presentation

A

absent thymic shadow, absent T cells, absent germinal centers

25
Q

Ataxia-telangctasia mechanism

A

defect in the ATM gene (leads to an inability to repair dsDNA breaks- leads to cell cycle arrest)

26
Q

Ataxia-telangctasia clinical presentation

A

decreased IgA/IgG/IgE, lymphopenia

triad- ataxia (cerebellar atrophy), angiomas, IgA deficiency

27
Q

Wiskott-Aldrich syndrome mechanism

A

mutation in WASp gene (leads to inability of leukocytes and platelets to reorganize the actin cytoskeleton –> defective antigen presentation and platelets)

28
Q

Wiskott-Aldrich syndrome clinical presentation

A

WATER- thrombocytopenia, eczema, recurrent pyogenic infections
elevated IgE and IgA

29
Q

Hyper IgM syndrome mechanism

A

mutated CD40L on helper T cells, leads to a lack of class switching

30
Q

Hyper IgM syndrome clinical presentation

A

increased IgM, decreased IgG/IgA/IgE, absence of germinal centers

31
Q

cause by type 2 hypersensitivity reactions

A

grave’s disease
myasthenia graves
autoimmune hemolytic anemia
goodpasture’s syndrome

32
Q

grave’s disease mechanism

A

autoantibodies that bind TSH receptor

33
Q

myasthenia gravis mechanism

A

autoantibodies that bind acetylcholine receptor

34
Q

autoimmune hemolytic anemia mechanism

A

autoantibodies that bind RBC surface antigens

35
Q

caused by type 3 hypersensitivity reactions

A

rheumatoid arthritis

systemic lupus erythematosus (SLE)

36
Q

rheumatoid arthritis mechanism

A

rheumatoid factor IgG complexes

37
Q

systemic lupus erythematosus (SLE) diagnosis

A

anti-dsDNA is specific for diagnosis

anti-nuclear antibodies (ANA) also positive

38
Q

caused by type 4 hypersensitivity reactions

A

type 1 DM
multiple sclerosis
hashimoto’s thyroiditis
sjogren syndrome

39
Q

type 1 DM mechanism

A

critical role of CD8+ T cells; pancreatic beta cell antigen

40
Q

multiple sclerosis mechanism

A

critical role of CD4+ T cells

MAD (7 decks)

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