Hereditary WBC disorders

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44 Terms

1

Pelger-Huet anomaly is what kind of congenital condition

autosomal dominant

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2

Neutrophils are hyposegmented with extra clumpy chromatin in all stages

Pelger-huet

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3

Higher numbers of band cells in a normal CBC, you should be suspecting

pelger-huet

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4

How do you confirm pelger huet

family studies

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5

The issue with pelger huet is its mistaken as

  • can look like a left shift in infection

  • seen in leukemias and certain drug treatments

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6

Alder Reilly anomaly

shows dark granulation in neutrophils that is considered normal

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7

What is the dark granules in Alder-Reilly

mucopolysacharides that are partially digested

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8

This granulation is considered normal in these cells

Alder Reilly anomaly

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9

What is Alder-Reillys anomaly mistaken for

Toxic granulation

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10

May- Hegglin Anomaly is characterized by

GIANT Dohle bodies

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11

CBC/diff results:

large Plts

thrombocytopenia

gisnt dohle bodies

May-Hegglin anomaly

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12

how is may-hegglin anomaly is inherited

autosomal dominant

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13

This is considered normal for this patient

  • May Hegglin anomaly

  • giant plt

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14

Chediak-Higashi is inherited

autosomal recessive

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15

Chediak-Higashi is characterized by

fusion of primary and secondary granules in all granulated cells

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16

Chediak-Higashi has other characteristic affecting the individual who has it, what are they

partial albinism

Photophobia

recurrent infections

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17

This is considered normal but the cells dont phagocytize as they should

Chediak-Higashi

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18

Chronic Granulomatous disease is inherited via

X linked recessive or Autosomal recessive

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19

Cells look normal but what is the defect in Chronic granulomatous disease

There is no O2 superoxide, H2O2, and no killing of microorganisms

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20

Someone with Chronic granulomatous disease has higher risks for infections. what are treatments

  • prophylactic antibiotics and anti-fungal agents when required

  • Bone marrow transplant

  • interferon or gene therapy

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21

Nitroblue tetrazolium test turns blue, does this person have CGD

No

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22

What is the color on a nitroblue tetrazolium test if the person has CGD

yellow or colorless

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23

What is the other way to diagnose CGD

Chemiluminescence

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24

Lipid storgage disorders are usually found in what community

Ashkenazi Jews

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25

Gauchers disease is characterized by

deficiency in Beta-glucocerebrosidase, hepatosplenomegaly, macrophages in the liver unable to digest lipids

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26

Gauchers cells are found in

Bone marrow, liver, lungs, and brain

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27

Gauchers cells are a form of what

Macrophages

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28

Gauchers cells

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29

Cytochemically what is positive for gauchers

  • PAS (fat stains)

  • non-specific esterase

  • TRAP

  • Hairy cell disease

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30

Niemann- pick (NP) is characterized by what

Deficiency in Sphingomyelinase

foamy cells filled with lipids

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31

NP is inherited how

autosommal recessive

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32

PHysically NP causes

delays in physical and mental development, hepatosplenomegaly, enlarged lymph nodes, chery spot in the macula, vacuolated lymphs

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33

NP disease

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34

Tay Sacs disease is characterized by

GM2 gangliosidosis enzyme deficiency causing lipid deposits in nerve cells

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35

what physical abnormalities are found in Tay sachs

macular cherry red spot, vacuolated lymphs, CNS deterioration

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36

Most common antibody deficiency is

IgA deficiency

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37

Primary deficiency is a

innate deficiency in a cell or antibody

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38

secondary deficiency is a

aquired through disease or treatment of a disease

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39

Congenital aplastic anemia has what physical characteristics

fanconis-autosomal recessive

  • all three cell lines are low

  • thumb and arm abnormalities

  • small head or eyes

  • skeletal issues in the hips, spine, or ribs

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40

severe combined immuno deficiency

failure of both B and T cell function

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41

Wiskott-aldrich syndrome

X-linked recessive disorder

  • eczema, thrombocytopenia

  • T cells are depleted

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42

Ataxia telangictasia

rare autosomal recessive, defective gene in DNA repair

  • lack of motor cordination

  • spidery vascular veins

  • both t and b cell abnormalities

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43

Di Georges

complete or partial lack of thymus

decrease in T cells

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44

B cell immunodeficiency

  • transient hypogammaglobulinemia

  • low antibodies

  • more prone to bacterial infections

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