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Step 1 stuff > Immunodeficiencies > Flashcards

Immunodeficiencies Flashcards

1
Q

Bruton’s agammaglobulinemia: inheritance

A

x-linked recessive

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2
Q

Bruton’s agammaglobulinemia: lab findings (4)

A

Normal pro-B
low maturation
low number of B cells
low Ig of all classes

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3
Q

Bruton’s agammaglobulinemia: presentation

A

recurrent bacterial infections after 6 months

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4
Q

Bruton’s agammaglobulinemia: defect

A

defective BTK (tyrosine kinase)

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5
Q

Selective Ig deficiency: defect

A

Defect in isotype switching leads to low level of a specific Ig class

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6
Q

Hyper-IgM syndrome: defect

A

defective CD40L (T cells) impairs class switching

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7
Q

Hyper-IgM syndrome: presentation

A

severe pyogenic infections early in life

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8
Q

Hyper-IgM syndrome: labs (2)

A

High IgM

very low other classes

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9
Q

Selective Ig deficiency: presentation (3)

A

sinus and lung infections
milk allergies and diarrhea
Anaphylaxis when exposed to IgA

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10
Q

Selective Ig deficiency: labs

A

IgA deficiency most common

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11
Q

Common variable immunodeficiency (CVID): defect

A

Poor b-cell differentiation

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12
Q

Common variable immunodeficiency (CVID): presentation (2)

A

acquired in 20s-30s

increased risk of autoimmune disease, lymphoma, sinopulmonary infections

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13
Q

Common variable immunodeficiency (CVID): labs (3)

A

Normal number of B cells
low plasma cells
low immunoglobulin

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14
Q

Thymic aplasia (DiGeorge’s): defect

A

22q11 deletion, failure to develop 3rd and 4th pharyngeal pouches

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15
Q

Thymic aplasia (DiGeorge’s): presentation (3)

A

Tetany
recurrent viral/fungal infections
congenital heart/great vessel defects

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16
Q

Thymic aplasia (DiGeorge’s): labs (4)

A

Low T cells
Low PTH
Low Ca
No thymic shadow

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17
Q

IL-12 receptor deficiency: defect

A

low Th1 response

18
Q

IL-12 receptor deficiency: presentation

A

Disseminated mycobacterial infections

19
Q

IL-12 receptor deficiency: labs

A

low IFN-gamma

20
Q

Hyper-IgE syndrome (Job’s): defect

A

Th cells fail to produce IFN-gamma, inability of neutrophils to respond to chemotaxis

21
Q

Hyper-IgE syndrome (Job’s): presentation (5)

A 
coarse Facies
cold staphylococcal Abscesses
retained primary Teeth
increased igE
Dermatologic problems (eczema)
22
Q

Hyper-IgE syndrome (Job’s): labs

A

high IgE (if you don’t answer this one correctly, slap yourself in the face. hard)

23
Q

Chronic mucocutaneous candidiasis: defect

A

T cell dysfunction

24
Q

Chronic mucocutaneous candidiasis: presentation

A

Candida Albicans infections of skin and mucous membranes

25
Q

SCID: defect (3 types)

A

Defective IL-2 receptor (most common)

26
Q

SCID: presentation

A

Recurrent infections of any kind

27
Q

SCID: treatment

A

BMT

28
Q

SCID: labs (2)

A 
low IL-2r (low T-cell activation)
high adenine (toxic to B and T cells)
29
Q

Ataxia-telengiectasia: defect

A

defect in DNA repair enzymes

30
Q

Ataxia-telengiectasia: presentation (3)

A

Cerebellar defects
Spider angiomas
IgA deficiency

31
Q

Ataxia-telengiectasia: labs

A

IgA deficiency

32
Q

Wiskott-Aldrich syndrome: defect

A

x-linked recessive, progressive deletion of B and T cells

33
Q

Wiskott-Aldrich syndrome: presentation (3)

A

Thrombocytopenic purpura
Infections
Eczema

34
Q

Wiskott-Aldrich syndrome: labs (3)

A

high IgE
high IgA
high IgM

35
Q

Leukocyte adhesion deficiency (type 1): defect

A

Defect in CD18 protein (LFA-1 integrin) on phagocytes

36
Q

Leukocyte adhesion deficiency (type 1): presentation (3)

A

Recurrent bacterial infections
Absent pus formation
Delayed separation of umbilicus

37
Q

Leukocyte adhesion deficiency (type 1): labs

A

Neutrophilia

38
Q

Chediak-Higashi syndrome:defect

A

autosomal recessive defect in microtubular function with low phagocytosis

39
Q

Chediak-Higashi syndrome: presentation (3)

A

Recurrent staphy/streptococci pyogenic infections
Partial albinism
Peripheral neuropathy

40
Q

Chronic granulomatous disease: defect

A

Lack of NADPH oxidase leads to less reactive ;oxygen species, absent respiratory burst in neutrophils

41
Q

Chronic granulomatous disease: presentation

A

susceptibility to catalase-positive organisms (S aureus, E coli, Aspergillus)

42
Q

Chronic granulomatous disease: labs

A

Negative Nitroblue tetrazolium dye reduction test

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