MORPHOLOGIC ABNORMALITIES OF LEUKOCYTES WITHOUT ASSOCIATED IMMUNODEFICIENCY Flashcards
decreased nuclear segmentation and distinctive coarse chromatin clumping
pattern
Pelger-Huët Anomaly
affects all leukocytes
Pelger-Huët Anomaly
nuclei may appear round, ovoid, or peanut
shaped
pelger-Huët (PH)
haracteristic spectacle-like
(“pince-nez”) morphology with
the nuclei attached by a thin
filament
pelger-Huët (PH)
associated with severe bacterial infections, HIV, tuberculosis, and mycoplasma pneumonia
Pseudo- or Acquired Pelger-Huët Anomaly
NUMBER OF CELLS AFFECTED
>68%
TRUE Pelger-Huët Anomaly
NUMBER OF CELLS AFFECTED <35%
PSEUDO PHA
hyposegmentation
Pelger-Huët Anomaly
decrease segmentation usually bilobed or unilobed
Pelger-Huët Anomaly
Pelger-Huët Anomaly function
NORMAL DESPITE THE ABNORMAL FORMATION
CHANGES ARE OBVIOUS IN MATURE NEUTROPHILS
Pelger-Huët Anomaly
Pelger-Huët Anomaly is a mutation in
lamin -beta receptor gene
round oval, duble shaped, pair of eyeglasses
Pelger-Huët Anomaly
Drugs known to induce PSEUDO- Pelger-Huët Anomaly
-mycophenolate
-mofetil
-valproate
-sulfisoxazole
-ganciclovir
-ibuprofen
-chemotherapies such as paclitaxel and docetaxel
granulocytes with large, darkly
staining metachromatic cytoplasmic
granules (large azurophilic granules)
Alder-Reilly Anomaly
Leukocyte function is not affected in
Alder-Reilly Anomaly
composed primarily of partially digested mucopolysaccharides
Alder-Reilly Anomaly
hunter’s and hurler’s diseases
Alder-Reilly Anomaly
characterized by variable thrombocytopenia, giant platelets, and large Döhle body-like inclusions in neutrophils, eosinophils,
basophils, and monocytes
May-Hegglin Anomaly
mutation in the MYH9 gene on chromosome 22q12-13.3 most patients are asymptomatic, few have a mild bleeding tendencies
May-Hegglin Anomaly
pink or rod shaped structures. These are fused primary granules (peroxidase positive)
auer rods
found on myeloid and monocytic series only
auer rods
bundles of auer rods that is mainly associated with M3 acute promyelocytic anemia
faggot cells
found in cases of AML and AMML
ML (Acute Myeloid Leukemia) and AMML (Acute Myelomonocytic Leukemia)
auer rods
single or multiple blue inclusions
dohle bodies
aggregates of free ribosomes of ER are cytoplasmic inclusions consisting of remnants of RNA arranged in parallel rows
dohle bodies
seen in severe infections and toxic states confused with May-Hegglin
dohle bodies
-mutations in genes that code for the production of lysosomal enzymes.
-classified according to the under degraded
macromolecule that accumulates in the cell
Lysosomal Storage Disorders
Lysosomal Storage Disorders
Mucopolysaccharidoses
Gaucher Disease
Niemann-Pick Disease
- deficient activity of an enzyme necessary for the degradation of dermatan sulfate, heparan sulfate, keratan sulfate, and/or chondroitin sulfate
✓Mucopolysaccharidoses
-The most common of the lysosomal lipid storage diseases.
- defect or deficiency in the
catabolic enzyme beta-glucocerebrosidase
- three subtypes (type 1 – most common)
Gaucher Disease -
- deficiency of lysosomal
hydrolase enzyme acid sphingomyelinase
✓Niemann-Pick Disease
deficiency of lysosomal hydrolase enzyme acid sphingomyelinase is due to the mutation of what gene?
SMPD1 GENE
macrophage has foamy appearance
pickle cell in Niemann-Pick Disease
