WBC ANOMALIES Flashcards
Deficiency of SPHINGOMYELINASE (for breakdown of LIPIDS) ; rare autosomal recessive disease ; more commonly seen in ASHKENAZI JEWS ;
Niemann-Pick disease
A macrophage whose cytoplasm is swollen by many LIPID droplets
Pick’s cells (Aka foam cell)
Defect or deficiency in the catabolic enzyme Beta glucocerebrosidase ; cramped tissue paper or onion skin appearance ; most common of lipid ones ; an autosomal recessive disorder
Gaucher’s disease
Found in the bone marrow ; large macrophage with small eccentric nucleus ; cytoplasm is distended by glucocerebrosides
Gaucher cell
Can be encountered thalassemia, chronic myeloid leukemia, ALL, non-Hodgkin lymphoma, plasma cell neoplasm
Pseudo-Gaucher cells
A rare autosomal recessive disease of immune dysregulation ; characterized by the presence of LARGE abnormal cytoplasmic granules in phagocytes
Chediak-Higashi syndrome
Abnormal granules in phagocytes reaction to peroxidase
Positive
Abnormal granules in lymphocytes peroxidase reaction
Negative
Numerous types of cells in the body are affected and show abnormally LARGE LYSOSOMES, which contain fused dysfunctional granules ; PARTIAL ALBINISM
Chediak-Higashi syndrome
Basic defect is golgi complex that is responsible for granule assembly ; abnormal granules
Chediak-Higashi syndrome
A rare X-linked recessive disorder where T cells are decreased ; B cells, T cells, and NK cells are dysfunctional which leads to bacterial, viral, fungal infections ; thrombocytes are structurally abnormal ; the number of dense granules is low and the thrombocytes is low and SMALL (MICROTHROMBOCYTES)
WISKOTT-ALDRICH SYNDROME
Patient with Wiskott-Aldrich syndrome exhibit a triad of
Thrombocytopenia
Immunodeficiency
Eczema
An autosomal dominant disorder characterized by the presence of GRAY BLUE spindle shaped inclusions ; DOHLE BODY-LIKE inclusions in the cytoplasm of granulocytes and monocytes ; variable thrombocytopenia and GIANT PLATELETS
MAY-HEGGLIN ANOMALY
Failure of the neutrophil nucleus to segment ; most common genetic disorder of WBCs ; an autosomal dominant disorder with decreased nuclear SEGMENTATION, coarse chromatin clumping pattern potentially affecting all leukocytes
Pelger-Huet anomaly
“Pince-nez” or “spectacle” form of neutrophil nucleus ; hyposegmented
Pelger-Huet cell
Spectacle-like “pince-nez” morphology with nuclei attached by a thin filament
Bilobed nuetrophil
A result of a mutation in the laminate B-receptor gene
Pelger-Huet anomaly
An inner nuclear membrane protein ; plays a major role in leukocyte nuclear shape changes that occur during normal maturation
Latin B-receptor
All neutrophil are affected by and demonstrate round nuclei
Homozygous Pelger-Huey anomaly
55% to 93% of the neutrophil population are affected
Heterozygous PHA
Pelger-Huet anomaly is also known as
True congenital PAH
ACQUIRED PHA is also known as
Pseudo PHA
May be seen in acute myeloid leukemia, chronic myeloproliferative neoplasms and myelodysplastic syndrome, HIV infection, tuberculosis, mycoplasma pneumoniae, and severe bacterial infections ; resembles the neutrophil of Pelger-Huet cells
Pseudo-Pelger-Huet cell
Neutrophils show _______ in true PHA
Normal granulation
