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Flashcards in Immunodeficiencies Deck (24)
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1
Q
  • Recurrent viral, fungal, and protozoal infections
  • hypocalcemia and tetany
  • congenital heart defects
A
Thymic aplasia (DiGeorge) 
-due to 22q11 deletion most commonly
2
Q

DiGeorge syndrome

A
  • 3rd and 4th pharyngeal pouches fail to develop
  • leads to no mature T cells and no parathyroids
  • results in recurrent viral/fungal/protozoal infections + hypocalcemia/tetany
3
Q

T cell dysfunction resulting in recurrent candida infections

A

Chronic mucocutaneous candidiasis

4
Q

Prophylaxis for chronic mucocutaneous candidiasis

A

ketoconazole

5
Q

Mycobacterial and fungal infections

A

IL-12 receptor deficiency

6
Q

X-linked B-cell deficiency that leads to recurrent bacterial infections after 3-6 mo. of age

A

Bruton agammaglobulinemia

  • defective tyrosine kinase gene –> low levels of ALL immunoglobulins
  • seen in boys
7
Q

Sinus and lung infections, associated with atopy and asthma

A

Selective IgA deficiency

-concern for anaphylaxis with blood products

8
Q

Severe recurrent infections (chronic mucocutaneous candidiasis, fatal or recurrent HSV/VZV/RSV/measles/flu/paraflu, PCP)
Chronic diarrhea
Failure to thrive
no thymic shadow on CXR

A

Severe combined immunodeficiency (SCID)

9
Q

Major defect leading to SCID

A

adenosine deaminase deficiency - leads to defect in early stem cell differentiation

10
Q

sinus and lung infections, cerebellar ataxia, poor smooth pursuit of moving targets with eyes, telangiectasia of face after age 5, elevated AFP

A

Ataxia-telangiectasia

11
Q

Components of ataxia-telangiectasia

A

ATAXIA - ataxia, telangiectasia/trafficking difficulty, lymphoma/leukemia risk, X-ray sensitive (avoid X-ray), IgA deficiency, increased AFP

  • increased AFP after 8 months
  • avg. age of death is 25 yrs
  • IgA and T cell deficiency –> lung and sinus infections
12
Q

Wiskott-Aldrich Syndrome components

A

WAITER - Wiskott-Aldrich, immunodeficiency, thrombocytopenia and purpura, eczema, recurrent pyogenic infections

  • X-linked
  • no IgM –> no defense against encapsulated bugs
  • low IgM, high IgA
13
Q

Hyper-IgM syndrome

A
  • increased IgM, other isotypes decreased
  • Autosomal recessive is due to no CD40 on B cells
  • X-linked is due to no CD40 ligand on helper T cells
14
Q

Defect in Chronic Granulomatous disease

A

lack of NADPH oxidase –> phagocytes are not effective against catalase + organisms

15
Q

Features of Chronic granulomatous disease

A
  • X-linked

- staph aureus and aspergillus infections

16
Q

Which bugs are pts with Chronic granulomatous disease esp. susceptible to?

A

Staph aureus, Aspergillus

17
Q

Diagnosis of Chronic granulomatous disease

A

negative nitroblue tetrazolium (NBT) test

- no yellow to blue-black oxidation

18
Q

Treatment of Chronic granulomatous disease

A

Prophylactic TMP-SMX and itraconazole; IFN-gamma as well

19
Q

Defect in Chediak-Higashi syndrome

A

defective LYST gene –> defect in lysosomal transport in phagosomes –> giant cytoplasmic granules in PMNs are diagnostic

20
Q

Classic triad of Chediak-Higashi syndrome

A

partial albinism
recurrent respiratory tract and skin infections
neurologic disorders

21
Q

Classic presentation of Leukocyte adhesion deficiency syndrome

A

delayed separation of umbilical cord

22
Q

Defect in Leukocyte adhesion deficiency syndrome

A

abnormal integrins –> inability of phagocytes to exit circulation

23
Q

Classic presentation of Hyper-IgE syndrome

A

eczema, recurrent cold S. aureus abscesses, coarse facial features (frontal bossing, broad nose, prominent forehead, deep-set eyes, doughy skin)

  • also can have retained primary teeth –> two rows of teeth
  • high IgE and eosinophils
24
Q

Defect in Hyper-IgE syndrome

A

mutation in gene for STAT3 signaling protein –> impaired differentiation of Th17 cells and impaired recruitment of neutrophils