Qualitative Leukocyte disorders

Question 1

Severe Combined immune Deficiency affects which type of immune response?

Answer 1

both the cellular & humoral

Question 2

*Affects both the cellular & humoral response of the immune system
* adenosine deaminase (ADA) deficiency
*mutations in the ADA gene located at chromosome 20q13.12

Answer 2

Severe Combined immune Deficiency
(SCID)

Question 3

Two types of Severe Combined immune Deficiency

Answer 3

1. Gamma chain Deficiency
2. Adenosine deaminase deficiency

Question 4

It is an X-linked SCID, the most common which is caused by mutation of what gene?

Answer 4

IL2R

Question 5

What does IL2R gene codes for?

Answer 5

purely codes for a gamma chain in your leukocyte receptor that binds the following interleukins: Interleukins-2, 4, 7, 9, 15, and 21

Question 6

at which chromosome mutation is commonly associated ADA deficiency?

Answer 6

20q13.12

Question 7

*a combined immunodeficiency
*X-linked, WAS gene
*decreased levels of WASp protein

Answer 7

Wiskott-Aldrich syndrome

Question 8

Which protein is important in cytoskeletal remodelling which has something to do with how your white blood cells are formed?

Answer 8

WASp

Question 9

DiGeorge syndrome is associated with a microdeletion in which chromosome band?

Answer 9

22q11.2

Question 10

*X-linked agammaglobulinemia
*reductions in all serum immunoglobulin isotypes and profoundly decreased or absent B cells

Answer 10

Bruton Tyrosine Kinase deficiency

Question 11

*Segmented neutrophilic nucleus having more than five lobes
*Seen in megaloblastic anemia

Answer 11

Neutrophil hypersegmentation

Question 12

What are commonly associated deficiencies of Neutrophil hypersegmentation?

Answer 12

Vitamin B12 and folic acid

Question 13

*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)

Answer 13

May-Hegglin Anomaly

Question 14

at which chromosome does MYH9 reacts to?

Answer 14

22q12-13

Question 15

*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

Answer 15

Alder-Reilly Anomaly

Question 16

Differentiate AR vs Toxic granulation

Answer 16

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

Question 17

*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

Answer 17

Pelger-Huet Anomaly

Question 18

Found in cases of granulocytic leukemia, myedysplastic and some myeloproliferative disorders, and some infections, and after exposure to certain drugs

Answer 18

Pseudo or Acquired Pelger-Huet Anomaly

Question 19

A type of WBC morphologic alterations showing a neutrophil nucleus with axial symmetry (mirror image) and is acquired in malignancies and chemotherapy

Answer 19

Twinning

Question 20

*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

Answer 20

Chediak-Higashi syndrome

Question 21

Rare group of genetic disease characterized by low neutrophil count, increase risk of infection, organ dysfunction, and a high rate of leukemic transformation

Answer 21

Congenital Defects of Phagocytes

Question 22

*Defects of Respiratory Burst  Inability of the phagocytic cells to kill intracellular microorganisms
*Most serious disorder related to a defect in microbicidal

Answer 22

Chronic Granulomatous Disease (CGD)

Question 23

inability of neutrophils and monocytes to adhere to endothelial cells and to transmigrate from the blood to the tissues
*Defects of motility

Answer 23

Leukocyte Adhesion Deficiency (LAD) Diseases

Question 24

*Alius-Grignaschi anomaly
*a deficiency in myeloperoxidase in the primary granules of neutrophils and lysosomes of monocyte

Answer 24

Myeloperoxidase (MPO) Deficiency

Question 25

*Granulocytes do not respond to chemotactic factors; therefore they fail to accumulate at the inflamed tissue
*A rare inherited condition seen in children

Answer 25

Lazy Leukocyte Syndrome

Question 26

An uncommon condition where phagocytes with normal random movement but the directional motility of these cells are impaired.

Answer 26

Job’s Syndrome

Question 27

warts, hypogammaglobulinemia, infections, and myelokathexis syndrome  CXCR4 gene located at 2q22

Answer 27

Whim’s syndrome

Question 28

Abundant fibrillar blue-gray cytoplasm with a striated or wrinkled appearance (onion skin- like, chicken scratched, crinkled tissue paper)

Answer 28

Gaucher cell

Question 29

most common of the lysosomal lipid storage diseases  Deficiency of beta-glucocerebrosidase

Answer 29

Gaucher’s disease

Question 30

Macrophages with a foamy cytoplasm packed with lipid-filled lysosomes that appear as vacuoles after staining  Sea-blue histiocytes

Answer 30

Niemann-Pick cell

Question 31

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?

Answer 31

Sphingomyelinase

Question 32

Showcases diseases that shoe abnormal proliferation of mature histiocytes in various tissues of the body

Answer 32

Histiocyte X

Question 33

either a normal segmented neutrophil or another phagocytic cell with the engulfed homogeneous and swollen nucleus of either a neutrophil or a lymphocyte

Answer 33

Lupus Erythematosus cell

Question 34

Monocyte that resembles an LE cell but contains a mass with clumped chromatin.

Answer 34

Tart cell