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IDBR > immunodeficiency > Flashcards

immunodeficiency Flashcards

1
Q

diagnosis of CVID

A

decreased IgG, IgA, IgM
*no response to vaccinations

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2
Q

best way to diagnose CVID

A

check vaccine titers

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3
Q

clinical syndrome of cyclic neutropenia

A

digital, oral ulcers and perineal infections self resolving

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4
Q

treatment of cyclic neutropenia

A

G-CSF

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5
Q

chediak higashi syndrome mechanism

A

mutation in LYST gene that causes defect of granules within neutrophils (fused granules)

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6
Q

feature of chediak higashi on pathology

A

giant blue granules in cytoplasm

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7
Q

feature of chediak higashi on pathology

A

giant blue granules in cytoplasms

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8
Q

syndrome of chediak higashi

A

recurrent bacterial infections
oculocutaneous albinism
HLH or lymphoma (late)
no fungal infections

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9
Q

SCID deficit

A

T cells

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10
Q

assay to diagnose SCID

A

TREC
T cell Receptor excision circles

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11
Q

thrombocytopenia
Bleeding
eczema
recurrent infections

A

Wiskott Aldrich

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12
Q

WAS mutation

A

WASP

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13
Q

most common reason for hyperIgM syndrome

A

CD40 Ligand deficiency

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14
Q

common infections with CD40 ligand deficiency

A

PCP pneumonia
Cryptosporidium
Cryptococcus

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15
Q

GATA2 deficiency association

A

antibody negative protein alveolar proteinosis

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16
Q

4 infections associated with GATA2 deficiency

A

HSV
HPV
EBV
disseminated NTM

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17
Q

x linked agammaglobulinemia deficiency in

A

bruton’s tyrosine kinase

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18
Q

CVID common infections

A

sinopulmonary
GI/enteric infections
echovirus

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19
Q

CVID carries increased risk for

A

AI disease and cancer (lymphoma)

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20
Q

CGD defect

A

NADPH oxidase, can’t produce superoxide anions

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21
Q

how to diagnose CGD

A

DHR (dihydrorhodamine) testing

22
Q

sepsis from catalase positive organisms

A

CGD

23
Q

catalase positive organism sepsis in CGD

A

Granulibacter bethesdensis, Chromobacterium violaceum, Francisella philomiragia

24
Q

cyclic or acute neutropenia mutation

A

neutrophil elastase (ELANE) mutations

25
Q

acquired adult neutropenia mutation

A

clonal CD3+/8+/57+ lymphs (LGL)
Gain of Function mutations in STAT3

26
Q

MPO deficiency mutation

A

absence of peroxidase positive granules
due to mutations in MPO gene

27
Q

describe clinical features cyclic or acute neutropenia

A

digital, oral, perineal infections, usually self-healing with recovery of counts, bacteremia uncommon

28
Q

mutation in chediak higashi

A

killing and chemotactic defects
due to mutations in CHS1, encodes LYST

29
Q

most common inheritance of CGD

A

X linked recessive

30
Q

Types of infections seen with CGD

A

Fungal (Aspergillus)
Enteric (mimics IBD)
catalase positive bacteria

31
Q

test for diagnosis of CGD

A

PMN dihydrorhodamine 123 oxidation (DHR)

32
Q

Neutropenia, pancytopenia, exocrine pancreatic insufficiency, skeletal anomalies

A

schwacmann diamond syndrome

33
Q

Delayed umbilical cord separation, omphalitis, gingivitis, periodontitis, bacterial/fungal mucous membrane infections without pus

A

LAD deficiency

34
Q

treatment of CGD

A

prophylactic TMP-SMX, anti fungal, Interferon Gamma, BMT

35
Q

LAD1 deficiency mutation

A

CD18 deficiency, causing loss of integrins

36
Q

biopsy in LAD1 deficiency

A

no neutrophils at sites of infection

37
Q

cigarette paper scarring

A

LAD1 deficiency

38
Q

diagnosis of LAD1

A

flow cytometry for CD18

39
Q

Describe Job’s syndrome clinical features

A

recurrent sinopulmonary infections S. aureus, S. pneumo, H. flu
post-infectious pulmonary cyst formation
recurrent S. aureus skin abscesses
Scoliosis, fractures, retained primary teeth, joint laxity
Eczema

40
Q

“Cold” skin abscesses lacking inflammatory reaction

A

Job’s syndrome

41
Q

inheritance of Job’s syndrome

A

AD

42
Q

mutation in Job’s syndrome

A

STAT3

43
Q

DOCK8 inheritance

A

AR

44
Q

DOCK8 clinical features

A

asthma, hyper IgE, allergies, HPV, HSV Molluscum infections

45
Q

IgM in DOCK8 versus Job’s

A

low in DOCK8, normal In JOb’s

46
Q

Interferon Gamma Deficiency clinical presentation

A

disseminated NTM infections, salmonella, TB

47
Q

how to diagnose IFN-y deficiency

A

flow cytometry for IFN-y R1

48
Q

Disseminated NTM later in life Predominantly female, mostly East Asian NTM, TB, Talaromyces, Burkholderia, VZV

A

IFN-y autoantibody syndrome

49
Q

IFN-y autoantibody syndrome diagnosis

A

presence of autoantibody, QFT is indeterminate

50
Q

lab feature of GATA2 deficiency

A

severe monocytopenia (NK or B cells)

51
Q

HPV and NTM infections

A

GATA2 deficiency

52
Q
A

IDBR (23 decks)

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