WBC Disorders Flashcards

1
Q

MPO def special feature

A

disseminated Candida

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2
Q

Specific granule def defect

A

CEBPE defect

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3
Q

Specific granule def diagnosis

A

Bilobed nuclei and lack of specific granules on peripheral smear

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4
Q

Pelger-Huet Anomaly defect

A

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

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5
Q

May-Hegglin Anomaly

A

AD, mutations in MYH9 with macrothrombocytopenia

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6
Q

Shwachman-Diamond Syndrome molecular defect

A

SDBS gene

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7
Q

WHIM syndrome defect

A

CXCR4

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8
Q

WHIM mnemonic

A

Warts, Hypogammaglobulinemia, Infections, Myelokathexis

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9
Q

LAD-1 - def?

A

Integrins, especially beta-2 integrin CD18

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10
Q

LAD-2 def

A

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

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11
Q

LAD-3 def

A

defect in integrin activation, bleeding diathesis

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12
Q

CGD mutations

A

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

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13
Q

Chediak Higashi Syndrome

A

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

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14
Q

Hyper IgE syndrome

A

STAT3, DOCK8 or TYK2

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