immunodeficiency

Question 1

diagnosis of CVID

Answer 1

decreased IgG, IgA, IgM
*no response to vaccinations

Question 2

best way to diagnose CVID

Answer 2

check vaccine titers

Question 3

clinical syndrome of cyclic neutropenia

Answer 3

digital, oral ulcers and perineal infections self resolving

Question 4

treatment of cyclic neutropenia

Answer 4

G-CSF

Question 5

chediak higashi syndrome mechanism

Answer 5

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

Question 6

feature of chediak higashi on pathology

Answer 6

giant blue granules in cytoplasm

Question 7

feature of chediak higashi on pathology

Answer 7

giant blue granules in cytoplasms

Question 8

syndrome of chediak higashi

Answer 8

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

Question 9

SCID deficit

Answer 9

T cells

Question 10

assay to diagnose SCID

Answer 10

TREC
T cell Receptor excision circles

Question 11

thrombocytopenia
Bleeding
eczema
recurrent infections

Answer 11

Wiskott Aldrich

Question 12

WAS mutation

Answer 12

WASP

Question 13

most common reason for hyperIgM syndrome

Answer 13

CD40 Ligand deficiency

Question 14

common infections with CD40 ligand deficiency

Answer 14

PCP pneumonia
Cryptosporidium
Cryptococcus

Question 15

GATA2 deficiency association

Answer 15

antibody negative protein alveolar proteinosis

Question 16

4 infections associated with GATA2 deficiency

Answer 16

HSV
HPV
EBV
disseminated NTM

Question 17

x linked agammaglobulinemia deficiency in

Answer 17

bruton’s tyrosine kinase

Question 18

CVID common infections

Answer 18

sinopulmonary
GI/enteric infections
echovirus

Question 19

CVID carries increased risk for

Answer 19

AI disease and cancer (lymphoma)

Question 20

CGD defect

Answer 20

NADPH oxidase, can’t produce superoxide anions

Question 21

how to diagnose CGD

Answer 21

DHR (dihydrorhodamine) testing

Question 22

sepsis from catalase positive organisms

Answer 22

CGD

Question 23

catalase positive organism sepsis in CGD

Answer 23

Granulibacter bethesdensis, Chromobacterium violaceum, Francisella philomiragia

Question 24

cyclic or acute neutropenia mutation

Answer 24

neutrophil elastase (ELANE) mutations

Question 25

acquired adult neutropenia mutation

Answer 25

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

Question 26

MPO deficiency mutation

Answer 26

absence of peroxidase positive granules due to mutations in MPO gene

Question 27

describe clinical features cyclic or acute neutropenia

Answer 27

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

Question 28

mutation in chediak higashi

Answer 28

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

Question 29

most common inheritance of CGD

Answer 29

X linked recessive

Question 30

Types of infections seen with CGD

Answer 30

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

Question 31

test for diagnosis of CGD

Answer 31

PMN dihydrorhodamine 123 oxidation (DHR)

Question 32

Neutropenia, pancytopenia, exocrine pancreatic insufficiency, skeletal anomalies

Answer 32

schwacmann diamond syndrome

Question 33

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

Answer 33

LAD deficiency

Question 34

treatment of CGD

Answer 34

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

Question 35

LAD1 deficiency mutation

Answer 35

CD18 deficiency, causing loss of integrins

Question 36

biopsy in LAD1 deficiency

Answer 36

no neutrophils at sites of infection

Question 37

cigarette paper scarring

Answer 37

LAD1 deficiency

Question 38

diagnosis of LAD1

Answer 38

flow cytometry for CD18

Question 39

Describe Job's syndrome clinical features

Answer 39

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

Question 40

“Cold” skin abscesses lacking inflammatory reaction

Answer 40

Job's syndrome

Question 41

inheritance of Job's syndrome

Answer 41

AD

Question 42

mutation in Job's syndrome

Answer 42

STAT3

Question 43

DOCK8 inheritance

Answer 43

AR

Question 44

DOCK8 clinical features

Answer 44

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

Question 45

IgM in DOCK8 versus Job's

Answer 45

low in DOCK8, normal In JOb's

Question 46

Interferon Gamma Deficiency clinical presentation

Answer 46

disseminated NTM infections, salmonella, TB

Question 47

how to diagnose IFN-y deficiency

Answer 47

flow cytometry for IFN-y R1

Question 48

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

Answer 48

IFN-y autoantibody syndrome

Question 49

IFN-y autoantibody syndrome diagnosis

Answer 49

presence of autoantibody, QFT is indeterminate

Question 50

lab feature of GATA2 deficiency

Answer 50

severe monocytopenia (NK or B cells)

Question 51

HPV and NTM infections

Answer 51

GATA2 deficiency