immunodeficiency Flashcards
diagnosis of CVID
decreased IgG, IgA, IgM
*no response to vaccinations
best way to diagnose CVID
check vaccine titers
clinical syndrome of cyclic neutropenia
digital, oral ulcers and perineal infections self resolving
treatment of cyclic neutropenia
G-CSF
chediak higashi syndrome mechanism
mutation in LYST gene that causes defect of granules within neutrophils (fused granules)
feature of chediak higashi on pathology
giant blue granules in cytoplasm
feature of chediak higashi on pathology
giant blue granules in cytoplasms
syndrome of chediak higashi
recurrent bacterial infections
oculocutaneous albinism
HLH or lymphoma (late)
no fungal infections
SCID deficit
T cells
assay to diagnose SCID
TREC
T cell Receptor excision circles
thrombocytopenia
Bleeding
eczema
recurrent infections
Wiskott Aldrich
WAS mutation
WASP
most common reason for hyperIgM syndrome
CD40 Ligand deficiency
common infections with CD40 ligand deficiency
PCP pneumonia
Cryptosporidium
Cryptococcus
GATA2 deficiency association
antibody negative protein alveolar proteinosis
4 infections associated with GATA2 deficiency
HSV
HPV
EBV
disseminated NTM
x linked agammaglobulinemia deficiency in
bruton’s tyrosine kinase
CVID common infections
sinopulmonary
GI/enteric infections
echovirus
CVID carries increased risk for
AI disease and cancer (lymphoma)
CGD defect
NADPH oxidase, can’t produce superoxide anions
how to diagnose CGD
DHR (dihydrorhodamine) testing
sepsis from catalase positive organisms
CGD
catalase positive organism sepsis in CGD
Granulibacter bethesdensis, Chromobacterium violaceum, Francisella philomiragia
cyclic or acute neutropenia mutation
neutrophil elastase (ELANE) mutations
acquired adult neutropenia mutation
clonal CD3+/8+/57+ lymphs (LGL)
Gain of Function mutations in STAT3
MPO deficiency mutation
absence of peroxidase positive granules
due to mutations in MPO gene
describe clinical features cyclic or acute neutropenia
digital, oral, perineal infections, usually self-healing with recovery of counts, bacteremia uncommon
mutation in chediak higashi
killing and chemotactic defects
due to mutations in CHS1, encodes LYST
most common inheritance of CGD
X linked recessive
Types of infections seen with CGD
Fungal (Aspergillus)
Enteric (mimics IBD)
catalase positive bacteria
test for diagnosis of CGD
PMN dihydrorhodamine 123 oxidation (DHR)
Neutropenia, pancytopenia, exocrine pancreatic insufficiency, skeletal anomalies
schwacmann diamond syndrome
Delayed umbilical cord separation, omphalitis, gingivitis, periodontitis, bacterial/fungal mucous membrane infections without pus
LAD deficiency
treatment of CGD
prophylactic TMP-SMX, anti fungal, Interferon Gamma, BMT
LAD1 deficiency mutation
CD18 deficiency, causing loss of integrins
biopsy in LAD1 deficiency
no neutrophils at sites of infection
cigarette paper scarring
LAD1 deficiency
diagnosis of LAD1
flow cytometry for CD18
Describe Job’s syndrome clinical features
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
“Cold” skin abscesses lacking inflammatory reaction
Job’s syndrome
inheritance of Job’s syndrome
AD
mutation in Job’s syndrome
STAT3
DOCK8 inheritance
AR
DOCK8 clinical features
asthma, hyper IgE, allergies, HPV, HSV Molluscum infections
IgM in DOCK8 versus Job’s
low in DOCK8, normal In JOb’s
Interferon Gamma Deficiency clinical presentation
disseminated NTM infections, salmonella, TB
how to diagnose IFN-y deficiency
flow cytometry for IFN-y R1
Disseminated NTM later in life Predominantly female, mostly East Asian NTM, TB, Talaromyces, Burkholderia, VZV
IFN-y autoantibody syndrome
IFN-y autoantibody syndrome diagnosis
presence of autoantibody, QFT is indeterminate
lab feature of GATA2 deficiency
severe monocytopenia (NK or B cells)
HPV and NTM infections
GATA2 deficiency
