Immunodeficiencies Flashcards Preview

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Flashcards in Immunodeficiencies Deck (16):
1

Ataxia-telangiectasia presents with ataxia, telangiectasias and _________

sinopulmonary infections

2

What is Dx?

oculocutaneous albinism
pyogenic infections
progressive neurologic dysfunction

Chediak-Higashi Syndrome

3

Severe bacterial and fungal infections with catylase + organisms
Granuloma formation
lack of staining with nitroblue tetrazolium

Chronic granulomatous disease
NADPH Oxidase deficiency

4

Congenital heart disease
Dysmorphic facies (cleft palate)
HYPOcalcemia

DiGeorge Syndrome
22Q11 microdeletion with thymic agenesis

5

Severe bacterial and viral infections in infancy
Chronic diarrhea
mucocutaneous candidiasis

Severe combined imunodeficiency
MCC = IL2R defect
2ndMCC = adenosine deaminase difficiency

6

recurrent nisseria infection

terminal C5-C9 compliment defficiency

7

recurrent infections that worsen with age
easy bleeding (thrombocytopenia)
eczema

Wiscott-Aldrich Syndrome

8

decreased immunoglobulin of all types
normal thymic shadow on x-ray
recurrent infections after 6 months
small/absent lymph nodes and tonsils

Bruton's X-linked agammaglobulinemia

9

immunodificiencies that decrease IgG

Bruton's X-linked agammaglobulinemia
Common variable imunodeficiency
Severe-combined immunodeficiency

10

What immunodificiency is caused by defective gamma chain of IL2 receptor ?

Severe combined immunodeficiency (X-linked version)

Autosomal recessive version is adenosine deaminase difficiency

11

What immunodificiency is caused by defective CD40L on T cells?

Hyper IgM (class switching defect), low IgG,E,A, High IgM

12

What immunodificiency is associated with an increase in AFP?

ataxia telangiectasia

spider angiomas on face (telangiectasias ) cause increase risk for lymphoma and leukemia after 5 yrs age

13

What is the pathophysiology for immunodeficiency caused by x-linked agammaglobulinemia?

BTK defect prevents maturation of B cells
lack of mature B cells means decrease in ALL Ig types
and no B cells in peripheral blood

14

Pt receives BCG vaccine and develops disseminated mycobacterial infection; found to have decreased INF-y and decreased Th1 response. What is the Dx?

IL-12 receptor deficiency

15

what immunodeficiency is associated with a deficiency in Th17+ cells (caused by STAT3 mutation) that leads to impaired neutrophil recruitment

Hyper IgE syndrome (aka Job syndrome)

16

what is the cause of chronic mucocutaneous candidiasis?

T cel dysfunction

Lab findings: absent in vitro T-cell proliferation in response to Candida antigens and absent cutanrous reaction to candida antigens

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