non-malignant leukocyte disorder

Question 1

• Autosomal dominant disorder characterized by decreased nuclear segmentation and distinctive coarse chromatin clumping pattern
• Affects all leukocytes, although morphologic changes are most obvious in mature neutrophils
• Mutations in thelamin B-receptor gene

Answer 1

pelger-huet anomaly

Question 2

• thrombocytopenia, giant platelets and large dohle body-like inclusions in neutrophils, eosinophils, basophils, and monocytes

Answer 2

may-hegglin anomaly

Question 3

• Notcaused by clonal or neoplastic changes in hematopoietic precursor cells
• Causes can be genetic or acquired and involve one or more lineages: neutrophil, lymphocyte, monocyte, eosinophil, and basophil, affecting the number of circulating cells, morphology, or both
• Many of these disorders are associated with significant clinical manifestations, although some are benign in nature

Answer 3

non-malignant leukocyte disorders

Question 4

• Is a rare inherited disorder characterized by granulocytes (monocytes and lymphocytes less often) with large, darkly staining metachromatic cytoplasmic granules
• was initially reported in patients with gargoylism; however, it can be seen in otherwise healthy individuals
• Granulations are also seen in mucopolysaccharidoses (MPSs)

Answer 4

alder-reilly anomaly

Question 5

pha

• normal individuals,
• pince-nez appearance of the nucleus

Answer 5

heterozygous pha

Question 6

• granulocyte contain large, dark staining metachromatic cytoplasmic granules
• normal neutrophil function
• clinical findings if present, are due to associated condition

Answer 6

alder-reilly anomaly

Question 7

• giant lysosomal granulocytes, monocytes, and lymphocytes
• leukocyte dysfunction and recurrent pyogenic infections
• bleeding due to abnormal dense granules in platelets

Answer 7

chediak-higashi disease

Question 8

• decreased nuclear segmentation in neutrophils; sometimes also affects other WBC’S
• asymptomatic

Answer 8

pelger-huet anomaly

Question 9

• > 5 nuclear lobes in neutrophils
• depends on underlying cause

Answer 9

neutrophil hypersegmentation

Question 10

pha

an inner nuclear membrane protein that combines B-type lamins and heterochromatin and plays a major role in leukocyte nuclear shape changes that occur during normal maturation

Answer 10

lamin B receptor

Question 11

pha

• cognitive impairment,
• heart defects, and skeletal abnormalities may occur;
• single nuclei

Answer 11

homozygous pha

Question 12

• A rare autosomal recessive disease of immune dysregulation
• Mutation in the CHS1 LYST gene
• Many types of cells in the body are affected and exhibit abnormally large lysosomes, which contain fused dysfunctional granules
• Clinical manifestations begin in infancy with partial albinism and severe recurrent life threatening bacterial infections
• Patients often have bleeding issues as a result of abnormal dense granules in platelets; death occurs before the age of 10 years

Answer 12

chediak-higashi syndrome

Question 13

• A rare, autosomal dominant disorder characterized by variable thrombocytopenia, giant platelets, and large Dohle body-like inclusions in neutrophils, eosinophils, basophils, and monocytes
• Caused by a mutation in the MYH9 gene with disordered production of myosin heavy chain type IIA, which affects megakaryocyte maturation and platelet fragmentation

Answer 13

may-hegglin anomaly

Question 14

• decreased nuclear segmentation in neutrophils
• depends on underlying condition

Answer 14

pseudo-pelger-huet anomaly