WBC Disorders

Question 1

MPO def special feature

Answer 1

disseminated Candida

Question 2

Specific granule def defect

Answer 2

CEBPE defect

Question 3

Specific granule def diagnosis

Answer 3

Bilobed nuclei and lack of specific granules on peripheral smear

Question 4

Pelger-Huet Anomaly defect

Answer 4

AD, lamin B receptor (LBR) gene, get bilobed nuclei in PMNs/eos, can also be seen in MDS

Question 5

May-Hegglin Anomaly

Answer 5

AD, mutations in MYH9 with macrothrombocytopenia

Question 6

Shwachman-Diamond Syndrome molecular defect

Answer 6

SDBS gene

Question 7

WHIM syndrome defect

Answer 7

CXCR4

Question 8

WHIM mnemonic

Answer 8

Warts, Hypogammaglobulinemia, Infections, Myelokathexis

Question 9

LAD-1 - def?

Answer 9

Integrins, especially beta-2 integrin CD18

Question 10

LAD-2 def

Answer 10

defect in fucosylation of macromolecules, esp selectins (includes neuro defets, Bombay RBC phenotype and craniofacial anomalies)

Question 11

LAD-3 def

Answer 11

defect in integrin activation, bleeding diathesis

Question 12

CGD mutations

Answer 12

gp91phox is the most common form (XL) with CYBB variants

Question 13

Chediak Higashi Syndrome

Answer 13

AR, defect in formation/trafficking of granules, oculo-cutaneous albinism, immunodef and bleeding diathesis

Question 14

Hyper IgE syndrome

Answer 14

STAT3, DOCK8 or TYK2