WBC Diseases Flashcards
Storage Diseases - Chronic Granulomatous Disease (CGD)
* Mutation:
* Deficiency:
Mutation: gp91phox/p47 gene coding for NADH Oxidase
Deficiency: NADH Oxidase (Bacterial Killing)
Storage Diseases - Gaucher Disease
* Mutation:
* Deficiency:
* Appearance:
Mutation: Glucocerebrosidase (GBA) 1 gene in chromosome 1q21
Deficiency: B-glucocerebrosidase
Appearance: Crumpled tissue paper/Onion Skin like
Triage: Hepatomegaly, Gaucher Cells in BM, Hyperphosphatemia
Storage Disease - Neimann -Pick Disease
* Mutation:
* Deficiency:
* Appearance:
Mutation: Spingomyelin phosphodiesterase 1 gene (SMPD 1 gene)
Deficiency: Acid spingomyelin (ASM)
Characteristics: Foamy Cells
WBC Anomly in Granulocyte
Hypersegmentation
> 5 lobes
Common: Megaloblastic anemia
WBC Anomly in Granulocyte
Hyposegmentation - Pelger-Huet Anomaly (Heterozygous)
Bilobed “Pince-nez” appearance/Dumbell shaped
WBC Anomly in Granulocyte
Hyposegmentation - Pelger-Huet Anomaly (Homozygous)
Round/Oval nuclei - No segmentation
WBC Anomly in Granulocyte
Chediak Higashi Syndrome
Giant lysosomal Granules
WBC Anomly in Granulocyte
May Heglin Anomaly
Giant platelets with Dohle-like bodies
WBC Anomly in Granulocyte
Alder Reily Anomaly
Large metachromaric Granules, resembles toxic granulation
Associated in Mucopolysaccharidosis - Hunter, Hurler’s, San filipo
WBC Anomly in Granulocyte
Aur Rods
a.k.a Faggot cells
Fused primary granule
WBC Anomly in Granulocyte
Dohle-bodies
Aggregates of free ribosomes of RER
WBC Anomly in Monocyte
Gaucher Disease
*Deficiency in B-galactocerebrosidase *causing Galactocerebroside accumulation in macrophage.
Most common Lipid Storage Disease
Gaucher Disease
WBC Anomaly in Monocyte
Crumpled Tissue paper/Onion like skin
Gaucher Disease
WBC Anomaly in Monocyte
Neimann’s Pick Syndrome
Deficiency in sphingomyelinase
Foam Cell
Niemann’s Pick Syndrome
Infectious Mononucleosis
* Cause:
* Target Cell:
a.k.a Kissing’s Disease
Infectious Mononucleosis
* Cause: Epstein-Barr Virus
* Target Cell: B cells
Cytomegalovirus
Most common Congenital infection
WBC Anomaly in Lymphocytes/Plasma cells
Hairy Cell
Lymphocyte with hair-like projections
WBC Anomaly in Lymphocytes/Plasma cells
Flame Cell
Plasma cell with Red-Pink cytoplasm
Seen in Multiple Myeloma
WBC Anomaly in Lymphocytes/Plasma cells
Grape cell
a.k.a Mott cell/Morula cell
Plasma cell with vacuoles
“Honeycombed appearance”
WBC Anomaly in Lymphocytes/Plasma cells
Sezary Cell
seen in Mycoses Fungoides
Round lymphocyte with nucleus that is grooved or convoluted (Cerebri form)
“Cerebri form” - Brainlike convolutions
WBC Anomaly in Lymphocytes/Plasma cells
Reider Cell
Lymphocytes with clover-leaf appearance
Seen in CLL
WBC Anomaly in Lymphocytes/Plasma cells
LE cell
**Neutrophil **with ingested homogenous round body
Smooth and evely distributed
WBC Anomaly in Lymphocytes/Plasma cells
Tart cell
Monocyte with ingested lymphocyte
Rough and evenly distributed
WBC Anomaly in Lymphocytes/Plasma cells
Smudge/Basket cell
Degenerated nucleus of ruptured WBC
* Smudge cell - Lymph; Thumbprint appearance
* Basket cell - Gran; Net-like chromatin pattern
Increased in CLL
FAB Classification
* Based on:
* Diagnosis of AML:
FAB Classification
* Based on:
*Morphology
Cytochemical stain
* Diagnosis of AML: >30%