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Hematologic Disorders > Immunodeficiencies > Flashcards

Immunodeficiencies Flashcards

1
Q

Name 2 innate immunity defects

A
  1. Chronic granulomatous disease
  2. Leukocyte adhesion deficiency
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2
Q

Chronic granulomatous disease mechanism

A

NADPH oxidase complex deficiency = less superoxide

Less respiratory burst = granuloma formation

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3
Q

Tests for chronic granulomatous disease

A

Dihydrorhodamine flow cytometry DHR 123
Nitro-blue

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4
Q

Chronic granulomatous disease signs & symptoms (5)

A
  • Osteomyelitis
  • Lymphadenopathy
  • Pneumonia
  • Abscesses (liver, visceral)
  • Granulomas: skin, GI, GU = obstruction
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5
Q

Chronic granulomatous disease lab findings (2) (Ig, RBC)

A

HYPERgammaglobulinemia
Anemia

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6
Q

Chronic granulomatous disease infections

A

CATALASE +
- S. aureus
- B.cepacia
- Nocardia spp.
- Aspergillus
- Candida

CATs have BeeN PLACESS = CATalase, Burkholderia, Nocardia, Pasteurella, Listeria, Aspergillus, Candida, E.coli, Staphylococcus, Serratia

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7
Q

Chronic granulomatous disease treatment

A

Prophylactic antibiotics (TMP-SMX) or antifungals (itraconazole)

Glucocorticoids
IFN-y therapy

Severe: stem cell transplant

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8
Q

Effect of NADPH oxidase

A

Converts to NADP+ —> makes superoxide O2- —> H2O2 —> broken down by catalase into H20 and O2

Therefore: more catalase = more breakdown of H2O2 = less H2O2 = weak respiratory burst

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9
Q

Chronic granulomatous disease hereditability

A

X-linked or AR

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10
Q

LAD mechanism

A

LFA-1/CD18 abscence
Beta-2 integrin for neutrophil adhesion

Phagocytes are trapped in circulation

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11
Q

LAD hereditability

A

AR

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12
Q

LAD signs & symptoms (4)

A
  • MOUTH skin and mucosa
  • Delayed umbilical cord separation >10 days
  • Omphalitis
  • Impaired wound healing
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13
Q

LAD lab findings (1)

A

Neutrophilia

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14
Q

LAD infections

A

Bacterial
Non-suppurative
- S.aureus
- P.aureginosa
- Klebisella

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15
Q

LAD treatment

A

Prevent infection
Bone marrow transplant
Prophylactic antibiotics

Life expectancy without tx = extremely short

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16
Q

LAD types

A

LAD1: b2 deficiency
LAD2: Sialyl-Lewis X deficiency (rolling)
LAD3: b1, b2, and b3 deficiency = no leukocyte activation nor platelet binding (HEMORRHAGIC)

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17
Q

Humoral defects (3)

A
  • X-linked agammaglobulinemia (XLA)
  • Hyper IgM
  • CVID
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18
Q

XLA mechanism

A

BTK deficiency = no mature B cells

Stop in pre-B or pro-B

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19
Q

XLA signs & symptoms, age they start

A

START IN 3-6 MONTHS
- Lymphoid hyperplasia
- Severe, recurrent pyogenic infections —> pneumonia, otitis media, bronchitis, sinusitis

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20
Q

XLA infections

A

ENCAPSULATED bacteria
- S.pneumoniae
- N.meningitidis
- H.influenzae

ENTEROVIRUS
- Coxsackie
- Polio

GIARDIA LAMBLIA

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21
Q

XLA treatment

A

IVIG monthly
Prophylactic antibiotics

22
Q

Which immunodeficiencies can’t receive live vaccines? Ex. Polio

A

XLA
SCID

23
Q

Hyper IgM mechanisms (2)

A

CD40L deficiency
- Less in Th cells = disrupt B cell class switch

AID dysfunction
- Affect IgH chain recombination
- Increase germinal centers = GIANT

24
Q

Hyper IgM signs & symptoms (4) and age

A

CHILDHOOD
- Recurrent severe pyogenic infections
- Respiratory
- Enteritis
- Hepatitis

25
Q

Hyper IgM lab findings

A

Neutropenia
IgM only

26
Q

Hyper IgM infections

A

SINOPULMONARY OPPORTUNISTIC
- P.jirovecci
- Histoplasma

  • Cryptosporidium = chronic diarrhea
  • CMV = pneumonia & hepatitis
  • S.pneumoniae
  • Cryptococcus
  • Mycobacteria
  • Giardia lamblia
27
Q

Hyper IgM treatment (4)

A

IVIG
Prophylactic antibodies
Recombinant G-CSF
Stem cell transplant

28
Q

Hyper IgM heritability

A

XR

29
Q

CVID mechanism

A

Phenotypically normal B cells can’t SURVIVE
= less plasma and memory cells

TACI

MHC HLA: DQ2, DR17, DR7, B8

30
Q

CVID signs & symptoms (4) and age

A

20-40 years
- Recurrent pyogenic: SINOPULMONARY, meningitis
- Lymphoma risk
- Autoimmune disorder risk
- Less vaccine response

31
Q

CVID lab findings

A

HYPOgammaglobulinemia

32
Q

CVID infections (4)

A

GIARDIA LAMBLIA
Mycoplasma
Congenital: rubella, CMV, T.gondii
Recurrent HZV

33
Q

CVID treatment

A

Prophylactic antibodies
IVIG

34
Q

Humoral deficiency most common manifestations (3)

A

Sinusitis
Bronchitis
Pneumonia

Encapsulated pyogenic bacteria

35
Q

SCID mechanisms (4)

A

NK+ = RAG 1/2 = defective VDJ

B+ = IL-2R gamma chain (most common)

All - = Adenosine deaminase ADA = toxic metabolites of deoxyadenosine and dATP

B+NK+ = IL-7Ra defect

36
Q

What do all SCID mutations have in common in their genotype

A

T-

37
Q

SCID signs and symptoms (4) and age

A

NORMAL AT BIRTH, 4-6 month onset
Severe, recurrent
- Bacterial diarrhea, chronic
- Chronic thrush
- Absent lymph nodes
- Inadequate growth

38
Q

SCID lab findings (4)

A
  • Less TRECs (excision circles)
  • Lymphopenia <300-500
  • Absent germinal centers
  • No thymic shadow
39
Q

SCID infections

A

ALL
Bacterial
Viral
Protozoal

40
Q

SCID treatment

A

IVIG
PCP prophylaxis
HSCT

41
Q

SCID red flags

A

Avoid live vaccines
Fatal if not tx within year 1

42
Q

T-B-NK+ mechanism

A

RAG 1/2 defect

43
Q

T-B+NK- mechanism

A

IL-2R gamma chain

44
Q

T-B-NK- mechanism

A

Adenosine deaminase ADA deficiency

45
Q

T-B+NK+ mechanism

A

IL-7Ra defect

46
Q

Omenn symdrome

A

SCID
Onset before 3mo.
- Erythroderma
- Adenopathy
- Hepatosplenomegaly
- Inadequate growth

47
Q

X-linked immunodeficiencies

A
  • Chronic granulomatous disease
  • XLA
  • Hyper IgM
  • IL-2R gamma SCID
48
Q

TACI deficiency effect

A

No mature B cells

49
Q

Genotype for LESS CD27+ memory B cells

A

CD40 and CD40L

50
Q

Genotype for normal CD27+ memory B cells but decrease of IgG

A

AID, UNG

Hematologic Disorders (6 decks)

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