Non-Malignant Leukocyte Disorder, Flashcards
A rare X-linked disease, caused by a mutation (400) in the WAS gene resulting to a decreased level of WASp protein
wiskott-aldrich syndrome
wiskott-aldrich syndrome is characterized by mutation in
WAS gene
it is important in cytoskeletal remodeling and nuclear transcription in hematopoietic stem cells
WASp protein
medication therapy for thrombocytopenia in wiskott-aldrich syndrome
eltrombopag
romiplostim
It includes DiGeorge Syndrome
22q11 deletion syndrome
they have variable immunodeficiency because of the absence and decreased size of thymus and low number of T-lymphocytes
22q11 deletion syndrome
it is classified as an antibody deficiency
Bruton Tyrosine Kinase Deficiency
characterized by reduction in all serum immunoglobulin isotypes and profoundly decreased or absent of B-cells
Bruton Tyrosine Kinase Deficiency
It is important for B-cell development, differentiation, and signaling
Bruton Tyrosine Kinase
No BTK results to
hypogammaglobulinemia
it is associated with a mutation in the CHS1 LYST gene
chediak-higashi syndrome
CHS1 LYST gene is found on chromosome
1q42.1-2
it encodes for a protein that regulates the morphology/structure and function of lysosome-related organelles
CHS1 LYST gene
Chediak-Higashi syndrome is associated with what abnormalities
structural and functional abnormality
triad seen in chediak higashi syndrome
recurrent infection
photophobia
oculocutaneous albinism
what is morphology seen in chediak higashi syndrome
large lysosomal granules
pseudo CHS is seen in
acute myeloid leukemia
chronic myeloid leukemia
myelodysplastic syndrome
what is increase in right shift
mature neutrophils
what is increase in left shift
immature neutrophils
what is the marker for hematopoietic stem cell
CD34
are rare autosomal recessive inherited conditions resulting in the inability of neutrophils and monocytes to move from circulation to the site of inflammation
leukocyte adhesion disorder
inflammation is also called as
extravasation
LAD I is caused by a mutation in
ITGB2
what is compromised in LAD II
selectin synthesis
mutation in what causes LAD III
kindlin-3
it is also a syndrome the same as LAD
shwachman-diamond syndrome (SDS)
it is a rare condition caused by the decreased ability of neutrophils to undergo a respiratory burst after phagocytosis
chronic granulomatous disease (CGD)
what abnormality is seen in CGD
functional abnormality
CGD is associated with a deficiency in what
NADPH oxidase/respiratory burst
test used in CGD
nitroblue tetrazolium dye test
it is characterized by decreased nuclear segmentation and distinctive coarse chromatin clumping pattern
pelger-huet anomaly (PHA)
PHA is the result of a mutation in the
lamin-B receptor gene
lamin-B receptor gene mutation changes the
morphology in PHA
PHA is associated with bilobed-appearance which is also called
“pince-nez”
how many lobes are in normal neutrophil
3-5 lobes
in what, is seen with more than five lobes and is associated with megaloblastic anemia
neutrophilic hypersegmentation (NH)
it is characterized by granulocytes with large, darkly staining metachromatic cytoplasmic granules
alder-reilly anomaly (AR)
patients with AR initially reported with
gargoylism
reilly bodies are also seen in
mucopolysaccharidoses (MPS)
reilly bodies in neutrophils resembles
heavy toxic granulation
a disorder characterized by variable thrombocytopenia, giant platelets and large dohle like-bodies inclusion in neutrophils, eosinophils, basophils, and monocytes
may-hegglin anomaly (MHA)
MHa is caused by the mutation in
MYH9 gene
MYH9 gene is located in
chromosome 22q12-13
dohle like-bodies inclusion in MHA are composed of
precipitated myosin heavy chain
are disorder of mucopolysaccharide or glycoaminoglycan (GAG) degradation
mucopolysaccharidoses
mucopolysaccharides is caused by enzyme deficiency to degrade
dermatan sulfate
heparan sulfate
it is the most common lysosomal lipid storage disease
gaucher disease
gaucher disease is caused by what enzyme deficiency
B-glucocerebrosidase
B-glucocerebrosidase is located on what chromosome
1q21-q22
it projects a striated or wrinkled appearance (onion-skin like)
gaucher cells
gaucher cells are positive in what stain
trichrome
aldehyde fuchsin
periodic acid shift (PAS)
acid phosphatase (ACP)
