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5 star topic: couple questions > immunodeficiencies > Flashcards

immunodeficiencies Flashcards

1
Q

T cell disorders

A 
thymic aplasia (DiGeorge syndrome)
chronic mucocutaneous candidiasis
IL-12 receptor deficiency
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2
Q

B cell disorders

A

bruton agammaglobulinemia

selective immunoglobulin deficiencies

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3
Q

combined T + B cell disorders

A

severe combined immunodeficiency (SCID)
ataxia telangiectasia
Wiskott-Aldrich syndrome
Hyper-IgM syndrome

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4
Q

phagocyte disorders (esp neutrophils)

A

chronic granulomatous disease
Chediak-Higashi disease
hypermmnoglobulin E (Job syndrome)
luekocyte adhesion deficiency syndrome

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5
Q

3rd + 4th branchial pouches don’t develop (endodermal):
no thymus: no mature T cells
no parathyroid: no PTH → hypocalcemia → tetany
congenital defects: heart/great vessels

A

thymic aplasia (DiGeorge syndrome)

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6
Q

common infections if have thymic aplasia (DiGeorge syndrome)

A

recurrent viral+ fungal + protazoal infections

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7
Q

associated with 22q11 deletion (detected by FISH)

A

thymic aplasia (DiGeorge syndrome): 90% cases

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8
Q

treatment of chronic mucocutaneous candidiasis

A

ketoconazole

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9
Q

common infections if have IL-12 receptor deficiency

A

mycobacterial + fungal infections

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10
Q 
X-linked (boys)
defective TK (tyrosine kinase) gene → low levels of ALL immunoglobulins
A

bruton agammaglobulinemia

Bruton = Boy

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11
Q

signs of hypocalcemia

A

CHvostek sign: tap on CHeek - facial muscle spasm

Trousseau sign: Tighten bp cuff on arm for 1 min → carpopedal spasm

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12
Q

T cell dysfunction that causes recurrent c. albicans infections

A

chronic mucocutaneous candidiasis

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13
Q

naive helper To cells are missing IL-12 receptor (don’t respond to IL-12 from macrophages)→ no Th1 cells

A

IL-12 receptor deficiency

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14
Q

recurrent bacterial infections in a boy after 6 mo of age (before 6 mo: protected by mom IgG)

A 
bruton agammaglobulinemia:
Bruton
Boys
Bacterial infections
B cell deficiency
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15
Q

healthy-appearing individual with recurrent sinus + lung infections
sinusitis: 3-4/year
young with recurrent pneumonia

A

IgA deficiency (most common selective Ig deficiency)

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16
Q

associated with atopic dermatitis and asthma

A

IgA deficiency

17
Q

possible anaphylaxis to blood transfusions and blood products with IgA

A

IgA deficiency

18
Q

presents with this triad:

1) severe recurrent infections: chronic mucocutaneous candidiasis, fatal or recurrent viral infections: RSV, VZV, HSV, measles, flu, parainfluenza, pneumocystitis jirovecii (PCP) pneumonia
2) chronic diarrhea
3) failure to thrive

A

severe combined immunodeficiency (SCID)

19
Q

no thymic shadow on newborn CXR

A

severe combined immunodeficiency (SCID): absence of thymus

DiGeorge Sydnrome: thymic aplasia

20
Q

defect in early stem cell differentiation
one possible gene defect: adenosine deaminase deficiency
only defense available: NK cells (no B cells, T cells)

A

severe combined immunodeficiency (SCID)

21
Q

IgA and T cell deficiency →

sinus + lung infections

A

Ataxia-Telangiectasia (igA, Ataxia, ↑AFP, T cell deficiency)

22
Q

presentation of ataxia-telangiectasia

A 
ATAXIA
Ataxia + poor smooth pursuit
Telangiectasia (> 5 ho)
Acute leukemia, lymphoma (↑ risk)
Xray sensitivity (avoid)
IgA deficiency + T cell deficiency
AFP elevated (> 8 mo age): helpful for screening in toddler with poor smooth pursuit
average age of death: 25 yo
23
Q

presentation of Wiskott-Aldrich syndrome

A 
WAITER - boy (x-linked)
Wiskott
Aldrich
Immunodeficiency
Thrombocytopenia + purpura
Eczema on TRUNK (not on usual flexural areas: knees, elbows, hands)
Recurrent pyogenic infections
24
Q

x-linked immunodeficiencies

A 
bruton agammaglobulinemia
WACH
Wiskott-aldrich syndrome
Agammaglobulinemia - bruton
Chronic granulomatous disease (majority) 
Hyper-IgM syndrome (majority)
25
Q

No IgM against bacterial capsular polysaccharides
low IgM
high IgA

A

Wiskott-Aldrich syndrome

26
Q 
high IgM (other isotypes decreased)
if AR disorder: B cells don't have CD40 (binds to CD40-L on Th1 cells to promote Ig class switching: only have IgM production)
if X-linked disorder (more common): Th1 cells don't have CD40-L
A

hyper IgM syndrome

27
Q

phagocytes don’t have NADPH oxidase → no superoxide free radicals → phagocytes can’t destroy catalase-positive microbes → recurrent to s. aureus + aspergillus (granulomatous lesions)

A

chronic granulomatous disease

28
Q

diagnosis of chronic granulomatous disease

A

negative nitroblue tetrazolium (NBT) test
add NBT to blood: phagocytes engulf dye →
no yellow to blue/black oxidation

29
Q

treatment of chronic granulomatous disease

A

prophylactic TMP-SMX + itraconazole

IFN-gamma is also helpful

30
Q

phagocytes have no NADPH oxidase

A

chronic granulomatous disease

31
Q

defective LYST gene (need for transport of enzymes into lysosomes) → defective phagocyte lysosomes → giant cytoplasmic granules in PMNs are diagnostic (phagocytosed material not digested)

A

Chediak-Higashi syndrome

32
Q

present with triad:
partial albinism
recurrent respiratory tract + skin infections
neurologic disorders (peripheral neurpathy, ataxia, seizures)

A

Chediak-Higashi syndrome

33
Q

mutation in gene for STAT3 signaling protein (part of JAK-STAT pathway) leads to:
impaired differentiation of Th17 cells in mucosa → impaired recruitment of neutrophils to fight opportunistic infections (staph, candida)
high IgE + eosinophils (mechanism for elevation not understood)

A

hyper IgE syndrome (Job syndrome)

34
Q

present with triad:
eczema
recurrent COLD (walled infection, no neutrophils to area) S. aureus abscesses (boils like Job in bible)
coarse facial features: broad nose, frontal bossing, deep-set eyes, thick “doughy” skin

A

hyper IgE syndrome

35
Q

retained primary teeth resulting in 2 rows of teeth on top + bottom

A

hyper IgE syndrome

36
Q

abnormal integrins (leukocyte extravasation: help leukocytes to exit blood and integrate into interstitium ) → inability of phagocytes to exit circulation

A

leukocyte adhesion deficiency syndrome

37
Q

delayed separation of umbilical cord (stays on for few mos, example of impaired wound healing)

A

leukocyte adhesion deficiency syndrome (type I)

5 star topic: couple questions (13 decks)

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