Qualitative Leukocyte disorders Flashcards
Severe Combined immune Deficiency affects which type of immune response?
both the cellular & humoral
*Affects both the cellular & humoral response of the immune system
* adenosine deaminase (ADA) deficiency
*mutations in the ADA gene located at chromosome 20q13.12
Severe Combined immune Deficiency
(SCID)
Two types of Severe Combined immune Deficiency
- Gamma chain Deficiency
- Adenosine deaminase deficiency
It is an X-linked SCID, the most common which is caused by mutation of what gene?
IL2R
What does IL2R gene codes for?
purely codes for a gamma chain in your leukocyte receptor that binds the following interleukins: Interleukins-2, 4, 7, 9, 15, and 21
at which chromosome mutation is commonly associated ADA deficiency?
20q13.12
*a combined immunodeficiency
*X-linked, WAS gene
*decreased levels of WASp protein
Wiskott-Aldrich syndrome
Which protein is important in cytoskeletal remodelling which has something to do with how your white blood cells are formed?
WASp
DiGeorge syndrome is associated with a microdeletion in which chromosome band?
22q11.2
*X-linked agammaglobulinemia
*reductions in all serum immunoglobulin isotypes and profoundly decreased or absent B cells
Bruton Tyrosine Kinase deficiency
*Segmented neutrophilic nucleus having more than five lobes
*Seen in megaloblastic anemia
Neutrophil hypersegmentation
What are commonly associated deficiencies of Neutrophil hypersegmentation?
Vitamin B12 and folic acid
*characterized by pale blue inclusions resembling Döhle bodies in neutrophils, eosinophils, and monocytes (precipitated myosin heavy chains)
*Giant platelets; Coexist with thrombocytopenia (decreased platelet count)
May-Hegglin Anomaly
at which chromosome does MYH9 reacts to?
22q12-13
*Granulocytes with large, darkly staining metachromatic cytoplasmic granules
*Dense, prominent, larger than normal azurophilic granulation in all white blood cells
*Purple red; seen in patients with Hurler, Hunter, and Maroteaux-Lamy types of genetic mucopolysaccharidosis; Gargoylism
*Can resemble very coarse toxic granulation
Alder-Reilly Anomaly
Differentiate AR vs Toxic granulation
AR: present in monocytes and lymphocytes (all white blood cells), NO neutrophilia with left shift, NO DOHLE bodies
Toxic Granulation: Neutrophils only neutrophilia with left shift PRESENT, DOHLE bodies PRESENT
*spectacle-like (“pince-nez”) morphology (may resemble a dumbbell or a pair of eyeglasses) *Hereditary, autosomal dominant condition
*Involves failure of normal segmentation of granulocytic nuclei
Pelger-Huet Anomaly
Found in cases of granulocytic leukemia, myedysplastic and some myeloproliferative disorders, and some infections, and after exposure to certain drugs
Pseudo or Acquired Pelger-Huet Anomaly
A type of WBC morphologic alterations showing a neutrophil nucleus with axial symmetry (mirror image) and is acquired in malignancies and chemotherapy
Twinning
*fused dysfunctional granules Rare, autosomal recessive
*Partial oculocutaneous albinism, photophobia,
*Giant lysosomal granules in granulocytes, monocytes, and lymphocytes
*Leukocyte dysfunction and recurrent pyogenic infections; bleeding due to abnormal dense granules in platelets
Chediak-Higashi syndrome
Rare group of genetic disease characterized by low neutrophil count, increase risk of infection, organ dysfunction, and a high rate of leukemic transformation
Congenital Defects of Phagocytes
*Defects of Respiratory Burst Inability of the phagocytic cells to kill intracellular microorganisms
*Most serious disorder related to a defect in microbicidal
Chronic Granulomatous Disease (CGD)
inability of neutrophils and monocytes to adhere to endothelial cells and to transmigrate from the blood to the tissues
*Defects of motility
Leukocyte Adhesion Deficiency (LAD) Diseases
*Alius-Grignaschi anomaly
*a deficiency in myeloperoxidase in the primary granules of neutrophils and lysosomes of monocyte
Myeloperoxidase (MPO) Deficiency
*Granulocytes do not respond to chemotactic factors; therefore they fail to accumulate at the inflamed tissue
*A rare inherited condition seen in children
Lazy Leukocyte Syndrome
An uncommon condition where phagocytes with normal random movement but the directional motility of these cells are impaired.
Job’s Syndrome
warts, hypogammaglobulinemia, infections, and myelokathexis syndrome CXCR4 gene located at 2q22
Whim’s syndrome
Abundant fibrillar blue-gray cytoplasm with a striated or wrinkled appearance (onion skin- like, chicken scratched, crinkled tissue paper)
Gaucher cell
most common of the lysosomal lipid storage diseases Deficiency of beta-glucocerebrosidase
Gaucher’s disease
Macrophages with a foamy cytoplasm packed with lipid-filled lysosomes that appear as vacuoles after staining Sea-blue histiocytes
Niemann-Pick cell
Niemann-Pick disease is a disorder on accumulation of fat in cellular lysosomes on vital organs (sphingomyelin), thus this condition is a deficiency in which enzyme?
Sphingomyelinase
Showcases diseases that shoe abnormal proliferation of mature histiocytes in various tissues of the body
Histiocyte X
either a normal segmented neutrophil or another phagocytic cell with the engulfed homogeneous and swollen nucleus of either a neutrophil or a lymphocyte
Lupus Erythematosus cell
Monocyte that resembles an LE cell but contains a mass with clumped chromatin.
Tart cell
