Qualitative Leukocyte disorders Flashcards
(34 cards)
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
