NOMALIGNANT LEUKOCYTE DISORDERS DISORDERS (Quali)

Question 1

autosomal dominant disorder characterized by decreased nuclear segmentation and distinctive coarse chromatin clumping pattern

Answer 1

PELGER-HUET ANOMALY (PHA)

Question 2

→ normal individuals, pince-nez appearance of the nucleus

Answer 2

HETEROZYGOUS PHA→

Question 3

→ cognitive impairment, heart defects, and skeletal abnormalities may occur ; single nucle

Answer 3

HOMOZYGOUS PHA

Question 4

Mutations in the lamin B-receptor gene

Answer 4

PELGER-HUET ANOMALY (PHA)

Question 5

darkly staining metachromatic cytoplasmic granules

Answer 5

ALDER-REILLY

Question 6

initially reported in patients with gargoylism; however, it can be seen in otherwise healthy individuals

Answer 6

ALDER-REILLY

Question 7

A rare, autosomal dominant disorder characterized by variable thrombocytopenia, giant platelets, and large Dohle body-like inclusions in neutrophils, eosinophils, basophils, and monocytes

Answer 7

MAY-HEGGLIN ANOMALY

Question 8

Caused by a mutation in the MYH9 gene

Answer 8

MAY-HEGGLIN ANOMALY

Question 9

A rare autosomal recessive disease of immune dysregulation

Answer 9

CHEDIAK-HIGASHI

Question 10

Mutation in the CHS1 LYST gene

Answer 10

CHEDIAK-HIGASHI

Question 11

-Patients often have bleeding issues as a result of abnormal dense granules in platelets; death occurs before the age of 10 years

Answer 11

CHEDIAK-HIGASHI

Question 12

begin in infancy with partial albinism and severe recurrent life-threatening bacterial infections

Answer 12

CHEDIAK-HIGASHI