Primary Immune Deficiency Flashcards
1
Q
definition of primary immune deficiency
A
- genetic mutation that may occur at any phase of the immune response
2
Q
primary immune deficiencies create undue susceptibility to
A
- infection
- autoimmunity
- malignancy
3
Q
inheritance of primary immune deficiencies
A
- AR
- AD
- X-linked
4
Q
most primary immune deficiencies are present in which stage of life?
A
- childhood
5
Q
importance of maternally transmitted IgG and primary immune deficiencies
A
- can mask immunodeficiency up until about 6 months of age
6
Q
majority of immune deficiencies are due to which cell?
A
- B cells or humoral immunity
7
Q
categories of immunodeficiency
A
- humoral/antibody defects
- cellular (mixed)
- innate immunity
8
Q
what kind of infections do you get with humoral/ antibody defects?
A
- pyogenic infections with encapsulated bacteria
9
Q
what diseases do you get with humoral/antibody defects?
A
- recurrent otitis media
- sinusitis
- pneumonia
10
Q
viral infection and humoral/antibody defects
A
- frequent viral infections
11
Q
diarrhea and humoral/antibody defects
A
- chronic diarrhea
12
Q
too frequent number of infections/antibiotics
A
- > 4 courses of antibiotics per year in children
- > 2 courses of antibiotics per year in adults
- > 4 new ear infections in one year after age 4
- pneumonia twice over any time
- > 3 episodes of bacterial sinusitis in one year
13
Q
Agamaglobulinemias caused by
A
- defects in B cell development
14
Q
Agamaglobulinemias and germinal center
A
- germinal center formation is defective
15
Q
Agamaglobulinemias and lymphoid tissues
A
- underdevelopment of lymphoid tissues
- lymph nodes
- spleen
- TONSILS AND ADENOIDS
- Peyer’s patches
16
Q
good physical sign for Agamaglobulinemias
A
- no tonsils or adenoids
17
Q
XLA accounts for what percentage of all Agamaglobulinemias
A
- 85%
18
Q
another name for XLA
A
- bruton’s Agamaglobulinemias
19
Q
XLA/Bruton’s caused by
A
- failure of B cell maturation
20
Q
XLA/Bruton’s or Bruton’s defect
A
- B cell tyrosine kinase
21
Q
populations that XLA/Bruton’s affects
A
- boys
- lyonized females
22
Q
role of B cell tyrosine kinase
A
- required for transducing signals from pre-B cell receptor
- stimulates B cell maturation
23
Q
IgG in B XLA
A
- below 100 mg/dl
24
Q
B cells in XLA
A
<2% of lymphocytes
25
T cells in XLA
- normal cell number and function
26
Cause of Hyper IgM syndrome
- defects in B cell isotype switching
27
number of B cells in hyper IgM syndrome
- normal numbers
28
levels of antibodies in hyper IgM syndrome
- elevated IgM levels
| - low IgG, IgE, and IgA
29
frequency of IgA deficiency
- most common primary immunodeficiency
30
IgA levels in IgA deficiency
- <5-7mg/dl
31
symptomology of IgA deficiency
- usually asymptomatic
| - sometimes increased sinopulmonary infections, diarrhea, autoimmune disease
32
giving IVIg to people with IgA deficiency?
- bad idea!
| - they have made antibodies against IgA
33
frequency of common variable immune deficiency
- second most frequent PID
| - most symptomatic
34
common variable immune deficiency most prevalent in
- adults
35
common variable immune deficiency antibody levels
- reduced IgG, IgA, and/or IgM
36
common variable immune deficiency antibody response
- absent or impaired antibody response to previous vaccination or infection
37
way to check for common variable immune deficiency
- check tetanus titer
38
infections with common variable immune deficiency
- sinusitis, pneumonia
- life threatening infections possible
- malignancies
39
specific antibody deficiency infections
- recurrent sinopulmonary infections
40
specific antibody deficiency antibodies levels
- normal IgG, IgA, IgM
41
specific antibody deficiency B cell number and function
- normal
42
specific antibody deficiency T cell number and function
- normal
43
how to tell a specific antibody deficiency
- impaired vaccine response (polysaccharide)
| - impaired response to natural encapsulated bacteria
44
encapsulated bacteria examplse
- streptococcus pneumoniae (SEEN A LOT) and pyogenes
- staph aureus
- klebsiella
- haemophilus influenzae
- pseudomonas aeruginosa
- nisseria meningitidis
- cryptococcus neoformans
STATISTICALLY SOME KILLERS HAVE PRETTY NICE CAPSULES
45
Transient hypogammaglobulinemia of infancy infections
- recurrent sinopulmomary infections
46
Transient hypogammaglobulinemia of infancy number of antibodies
- slightly low IgG
| - normal specific antibodies
47
Transient hypogammaglobulinemia of infancy lymphocyte number and function
- normal
48
Transient hypogammaglobulinemia of infancy cause
- delay in maturation of T cell help for antibody production
49
Transient hypogammaglobulinemia of infancy onset
- around 6 months of age
| - after maternal antibody has gone away
50
Transient hypogammaglobulinemia of infancy resolves
- by age 4
51
diagnostic evaluations for humoral immune system
- CBC with diff
- specific antibody titers
- complement assays
- lymphocyte markers (adjust for age)
52
T cell dysfunctions most infected with
- intracellular microorganisms
53
Omenn syndrome caused by
- mutations in RAG genes
54
Omenn syndrome T cells
- low to normal number
55
Omenn syndrome onset
- early onset < 3 months
56
Omenn syndrome antibody markers
- elevated IgE and Eosinophilia
57
Omenn syndrome clinical signs
- lymphadenopathy
- hepatosplenomegaly
- chronic persistent diarrhea
- failure to thrive
58
DiGeorge defect embryogenesis
- defects in 3rd and 4th pharyngeal pouches
59
wiskott aldrich syndrome clinical presentation
- eczema
- throbocytopenia with small platelets
- immunodeficiency
60
Wiskott Aldrich syndrome protein involved with
- actin polymerization
61
combined immunodeficiency humoral immunity
- will also be impaired
62
best diagnostic test for CGD diagnosis
- flow cytometry
63
leukocyte adhesion deficiency-1 and neutrophils
- neutrophils cannot migrate toward inflammatory stimulate or adhere to vascular endothelium
64
leukocyte adhesion deficiency-1 diagnosis suggestions
- delayed umbilical cord separation
- recurrent soft tissue infections
- severe peridontal disease
- no pus formation despite high white blood cell counts
65
HyperIgE syndrome clinical presentation
- severe eczema
- retained primary teeth
- recurrent candida
- recurrent bone fractures
66
HyperIgE syndrome antibody levels
- very elevated IgE
>2000
- peripheral eosinophilia
67
diagnostic tests for innate immunity
- CBC with diff
- neutrophil function
- complement assay
68
primary immune deficiencies that present at birth to 3 months
- phagocytic cell defects
- complement defects
- DiGeorge
69
primary immune deficiencies that present at 3-6 months
- SCID
70
primary immune deficiencies that present at 6-18 months
- XLA
| - transient hypogam
71
primary immune deficiencies that present at 18 month-adulthood
- CVI
| - complement defects
72
primary immune deficiency physical exam
- growth measurements
- inspection of tonsils
- thrush
- palpation of lymph nodes
- organomegaly
- skin lesions
73
syndromes that you would treat with daily antibiotics
- IgA deficiency
- specific antibody deficiency
- transient hypogammaglobulinemia
74
syndromes that you would treat every 3-4 weeks with IVIG
- XLA
- hyper Igm syndrome
- CVID
75
best treatment for CGD
- gamma interferon
76
complement immunodeficiency treatment
- immunizations with bacterial polysaccharide vaccines
