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Hematalogy Lecture > Unit 1: Nonmalignant Leukocyte Disorders > Flashcards

Unit 1: Nonmalignant Leukocyte Disorders Flashcards

1
Q

Congenital Defects of Leukocytes

A

 SCID
 Wiskott-Aldrich Syndrome
 22q11 Syndromes
 Chediak-Higashi Syndrome
 Chronic Granulomatous Disease

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2
Q

What 3 conditions can go on to develop non-Hodgkin’s Lymphoma?

A

-SCID (Severe Combined Immunodeficiency Syndrome)
-Wiskott-Aldrich Syndrome (WAS)
- 22q11 Syndromes

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3
Q

So-called “hematopoietic variant” causes death in first few mos. of life

A

SCID

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4
Q

Pts. have few or no T cells, & B cells have abnormal function. (Also affects granulocytes.)

A

SCID

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5
Q

SCID is caused by a mutation to the_____ receptor

A

IL-2

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6
Q

SCID:

______ curative in some (but not all) cases; this disease
has been major focus of gene therapy trials in past.

A

BMT

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7
Q

-Rare sex-linked recessive mutation
-Both B- & T-cells have abnormal function.
-Boys seldom survive beyond adolescence

A

Wiskott-Aldrich Syndrome (WAS)

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8
Q

Wiskott-Aldrich Syndrome (WAS) manifests a ______ defect.

A

CD 43

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9
Q

Wiskott-Aldrich Syndrome (WAS) is characterized by…

A

recurrent infections, eczema, & thrombocytopenia.

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10
Q

What is the prognosis with 22q11 Syndromes?

A

Death rate high – most do not survive > 1 yr

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11
Q

 Includes multiple immunodeficiency disorders
 Involve the absence or decreased size of thymus and T-lymphs

A

22q11 Syndromes

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12
Q

______ deletion associated with cardiac
defects, developmental delays, psychiatric disorders, short stature, hypocalcemia, thrombocytopenia and large platelets, cytopenias, and increased risk of malignancy

A

22q11

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13
Q

What is the treatment for 22q11 Syndromes?

A

thymic tissue transplantation or T-cell transplantation

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14
Q

Chediak-Higashi Syndrome:

-Rare, autosomal ___________
-Patients don’t usually survive past childhood

A

recessive

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15
Q

Characterized by gigantic, fused, primary
and secondary granules

A

Chediak-Higashi Syndrome

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16
Q

Chediak-Higashi Syndrome:

Peroxidase ___________ lysosomes in granulocytes ,
monocytes, and lymphocytes.

A

positive

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17
Q

Chediak-Higashi Syndrome:

Mutation in _________ gene

A

CHS1 LYST

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18
Q

Chediak-Higashi Syndrome:

Abnormal _______ granules in platelets but usually normal sized

Dense means

A

dense

Dense with energy so ATP ADP serotonin and

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19
Q

Giant granules in all WBCs =

A

Chediak -Higashi

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20
Q

Chediak-Higashi Syndrome:

prone to….

A

infections and bleeding issues

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21
Q

Chediak Higashi Syndrome:

Granules are normal, but they ____________ , so
WBCs kill ineffectively

Pts. have recurrent infections & syndrome is eventually fatal.*

A

are fused together

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22
Q

Granular fusion in other body cells such as melanocytes affect their function, so bizarre problems
such as partial cutaneous albinism result
-Known to affect other species! (Ex., killer whales,
cats, mice, mink & cattle!)

A

Chediak Higashi Syndrome

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23
Q

-Rare, inherited (60% X-linked, 40% autosomal recessive)
-Really a syndrome representing several different genetic diseases

A

Chronic Granulomatous Disease (CGD)

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24
Q

Chronic granulomatous representing several

A
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25
Q

Chronic granulomatous diseases
Question- various defects cause
Question 2- WBC’s have special difficulty

FYI cat and bacteria don generate enough what

A

WBCs to have ineffective killing ability, due to inability to produce superoxide and H2O2.

WBC’s have special difficulty with catalase pos bacteria

FYI cat + bacteria don’t generate enough H2O2 to trigger MPO activity so the bacteria can fly under the radar and flourish

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26
Q

Chronic granulomatous diseases
Question- bacteria thus can breed inside

A

Phagolysosomes, causing chronic infections characterized by granuloma formation

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27
Q

Chronic granulomatous diseases
Question- what is a granuloma

A

A granuloma is a tissue accumulation of macrophages usually surrounded by lymphocytes due to unresolved inflammation

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28
Q

Chronic granulomatous diseases
Question- most patients experience what

A

Fungal and bacterial infections of the lungs, skin, lymph nodes, and liver.

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29
Q

Chronic granulomatous diseases
Question- neutrophil count is normal until

A

Infection, then increases

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30
Q

Chronic granulomatous diseases
Question- test for CGD

A

Is Nitroblue tetrazolium slide test (NBT)- no reaction form CGD neutrophils.

Normal neutrophils reduce the yellow nitroblue to a dark blue reaction

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31
Q

CGD cell have no

A

Reaction with NBT

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32
Q

Normal neutrophils have

A

Reaction with NBT

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33
Q

Chronic granulomatous diseases
Question- survival rate based on type of

A

Mutation

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34
Q

CGD can’t kill what type of bacteria?

A

catalase pos

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35
Q

Morphological abnormalities of leukocytes
Question- nuclear abnormalities-

A

Pelger huet anomaly
Twinning

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36
Q

Morphological abnormalities of leukocytes
Question- cytoplasmic abnormalities

A
  • may-haggling anomaly
  • Alder Reilly anomaly
  • lysosomal storage diseases
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37
Q

Pelger-huet anomaly
Question- is what type of disorder

A
  • Benign autosomal dominant disorder
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38
Q

Pelger-huet anomaly
Question- decreased what and most obvious in

A

Nuclear segmentation in all WBC’s and most obvious in neutrophil’s

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39
Q

Pelger- huet anomaly may be in what forms

A

Two forms
1.) bi-lobed nuclei in 55-93% of sets of heterozygotes ( peanut, dumbbell-shaped)
2.) mostly unsegmented, round nuclei in sets of homozygotes ( found in all sets and much rarer)

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40
Q

More common form of Pelger huet anomaly

A

bi-lobed nuclei in 55-93% of sets of heterozygotes ( peanut, dumbbell-shaped)

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41
Q

Less common form of Pelger-Huet anomaly

A

2.) mostly unsegmented, round nuclei in sets of homozygotes ( found in all sets and much rarer)

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42
Q

Pelger-Huet anomaly
Question- segs are still

A

N. In function and can preform phagocytosis

43
Q

Pseudo Pelger- huet anomaly
Question- true pelger- huet is

A

Inherited and the # of affected cells is greater than pseudo

44
Q

Pseudo Pelger- huet anomaly
Question- Pseudo pelger huet is acquired with=
is seen in conjunction=

A

Lower percentage of affected cells.

Seen in conjunction with myelodysplastic syndromes (MDS), AML, CML, HIV infections

45
Q

Pseudo Pelger- huet anomaly
Question- Pseudo PHA neutrophils are

A

Often hypogranular, while true PHA neutrophils have normal granulation

46
Q

Pelger huet=

A

Dumbbell Segs

47
Q

Twining and associated with

A

A nucleus with axial symmetry ( mirror image)

Associated with malignancies and chemotherapy

48
Q

Neutrophil hypersegmentation and associated with

A

Greater then 5 lobes

Associated with megaloblastic anemias

49
Q

Neutrophil hypersegmentation can be inherited (true or false)

A

Inherited (rare-myelokathexis)

50
Q

Cytoplasmic abnormality defects- Mary- hegglin anomaly
Question- what type of disorder is this and its characterized by what

A

It’s a rare autosomal dominant disorder and is characterized by leukopenia, variable thrombocytopenia, and giant plts. ( with abnormal function)

51
Q

Cytoplasmic abnormality defects- Mary- hegglin anomaly
Question- what type of inclusion do Mary hegglin anomaly have and Inclusions are a combination of what

A

Gray blue RNA inclusions ( look like Dohles but larger) in all WBCs.

Inclusions are a combination of rods and granules that are ribosomal hence Dohle like

52
Q

Cytoplasmic abnormality defects- Mary- hegglin anomaly
Question- mutation in what gene on what chromosome

A

MYH9 gene on chromosome 22q12-13

53
Q

Cytoplasmic abnormality defects- Mary- hegglin anomaly
Question- most pts have no=
But blank show variable=

A

Clinical abnormalities

But 1/3 sow variable hemorrhagic problems, depending upon plt count ( approximately 40,000-80,000 plts/uL)

54
Q

Alder-Reilly anomaly
Question- what type of disorder and decreased what

A

Is a Rare inherited disorder

Decreased degradation of mucopolysaccharides results in deposition of lipids in the cytoplasm of most cells.

55
Q

Alder-Reilly anomaly
Question- structural abnormality of the blank

A

Myeloperoxidase gene

56
Q

Alder-Reilly anomaly
Question- characterized by

A

Clusters of large 1 prime, non- specific, azure Philip granules resembling severe toxic granulation

57
Q

Alder-Reilly anomaly
Question- these granules can be seen in

A

All types of WBC’s, but not toxic granulation only in neutrophils

58
Q

Alder-Reilly anomaly
Question- sometimes nucleus is

A

Totally obscured by granules

59
Q

Alder- Reilly=

A

Pseudo toxic gran

60
Q

Alder-Reilly anomaly
Question- so how would you know this wasn’t real toxic granulation

A
  • no neutrophila
  • no Dohle bodies
  • no left shift
  • occurs in wrong cells ( lymph’s and monos)
61
Q

Lysosomal storage disease in monocytes/ macrophages
Question- group of rare what inheritance

A

Rare autosomal recessive disorders

Lipidoses

62
Q

Lipidoses
Question- what type of deficiency and causes what

A

Inherited enzyme deficiency causes inability to degrade lipids, causing enlarged cytoplasm filled with wast-stuffed lysosomes

63
Q

Lipidoses
Question- adult type lipidoses mostly found in

A

Ashkenazi Jewish populations

64
Q

Lipidoses
Question- types of disorders

A

There are four major disorders

  • Gaucherie disease
  • Niemann- pick disease
  • Familial sea blue histiocytosis
65
Q

Gaucher’s disease
Question- is the most common and causes accumulation of what of what spring olio is

A

Lipidoses
Accumulation of unmetabolized sphingolipid glucocerebrosides

66
Q

Gaucher’s disease
Question- gauche cells

A

Large macrophages with small eccentrically placed nuclei, and cytoplasm with characteristic crinkled appearance ( “ crumpled tissue paper)

67
Q

Gaucher’s disease
Question- usually seen in the

A

Bone marrow and spleen, and do not affect erythropoiesis

68
Q

Gaucher’s disease
Question- Gaucher’s cell are blank stain positive

A

Periodic Acid Schiff (PAS) stain pos due to glycogen content

69
Q

Gaucher’s disease
Question clinical symptoms due to accumulation of lipids in macrophage of spleen and liver

A

Bone pain
Splenomegaly

70
Q

Gaucher’s disease
Question clinical symptoms due to splenomegaly

A

Leukopenia
Thrombocytopenia
Variable anemia

71
Q

Gaucher’s disease
Question other symptoms

FYI

Vacuolated what

A

Vacuolated lymph’s and neurological symptoms

FYI three types of this disease have been identified bc they differ in severity and age of onset

72
Q

Gaucher’s disease
Question treatment

A

Infusion with (r) glucocerebrosidase

Gene therapy also being investigated

73
Q

Neumann- pick disease
Question group of disorder ( 3 types ) due to lack of

This causes eventual permanent damage

A

Sphingomyelin in macrophages of b.m, spleen, liver, and brain

Death usually occur by age three from damage

74
Q

Niemann-pick Disease (NPD)
Question- macrophages are and are call what

Nuclei

A

Large with small eccentric nuclei and cytoplasm has round, uniformly sized droplets of accumulated lipid
- thus called foam cell

75
Q

Familial sea blue histiocytosis
Question unknown specific what deficiency

A

Enzyme deficiency causes this inherited, lipid storage disease

76
Q

Familial sea blue histiocytosis
Question- enlarged tissue what

However these cells can also be seen in

A

Tissue Macrophages in spleen, liver, and b.m. Show numerous lipid granules that stain a striking blue-green with wrights stain

Can also be seen in CML and niemann pick disease

77
Q

Familial sea blue histiocytosis
Question H0 is just a

A

Subtype of Niemann pick disease

78
Q

Familial sea blue histiocytosis
Question clinical symptoms

A
  • Hepatosplenomegaly
  • thrombocytopenia ( thus bleeding problems)
79
Q

Infectious mononucleosis ( IM) is acute vs chronic, contagious or non- contagious, transmitted by

A

Acute, contagious, and is transmitted by saliva

80
Q

IM is caused by and characterized by what type of cell

FYI by age 10

A

Epstein Barr virus and characterized by reactive lymph’s in p.b. And Pos heterophile test

Differentiated T-cells

FYI- by age 10, 90% of population has anti-EBV Abs

81
Q

IM clinical features
Incubation

A

3-7 wk incubation ( teen and young adults) with 1-3 wk duration

82
Q

IM clinical features

Sudden onset of

A

Sudden onset of fever, pharyngitis and bilateral cervical lymphadenopathy.

83
Q

IM clinical features
Nonspecific what

A

Malaise and fatigue

84
Q

IM clinical features
Usually self

A

Self limiting ( thus relatively benign)

85
Q

IM clinical features
Complication

A

Rare, but can include aplastic anemia, DIC, TTP, splenomegaly, cold agglutination disease, and hepatitis

86
Q

Cold agglutination disease may trigger

A

A transient hemolytic anemia

87
Q

IM lab features
WBC count usually

A

Elevated to 10-30*10^9/L

88
Q

IM lab features
Absolute T cell what

A

Lymphocytosis ( > 5*10^9/L)

89
Q

IM lab features
Greater then ___ reactive lymph’s in p.b

A

20%

90
Q

IM lab features
Also may see some p.b…

A

Monocytosis, but monocytes are not the definitive cell type seen here

91
Q

IM lab features
Type what lymph’s predominate

Old name

A

Type 2 lymph’s predominate

Old name was Downey cells

92
Q

IM classical serological tests

A

-POS for heterophile Ab
-Ex, monosure, monoquik, monospot(old), monocheck ( very popular now)
-POS for specific EBV abs
- POS for PCR for EBV Ag

93
Q

Cytomegalovirus infection

Most likely if

A

Monospot negative

94
Q

Cytomegalovirus infection

Type of

A

Common herpes virus

95
Q

Cytomegalovirus infection
Condition closely resembles what

A

IM

96
Q

Cytomegalovirus infection

Shows absolute reactive

A

Lymphocytosis ( but negative heterophile)

97
Q

Cytomegalovirus infection

Virus shed into

A

Urine, body fluids, and even WBC’s, so transmission in adults primarily venereal

98
Q

Acute infective Lymphocytosis

Viral blank

A

Viral (coxsackie enterovirus) or non viral

99
Q

Acute infective Lymphocytosis

Usually occurs in

A

Children 1-10yrs

100
Q

Acute infective Lymphocytosis

Contagious but

A

Benign and self limiting

101
Q

Acute infective Lymphocytosis

Usually what

A

Asymptomatic but can have fever, diarrhea, upper respiratory infections, abdominal pain

102
Q

Acute infective Lymphocytosis

Characteristics extreme absolute

A

T-cell Lymphocytosis ( > 100,000/uL usually 40,000-50,000/uL).

103
Q

Acute infective Lymphocytosis
However, lymph’s are

A

Small, uniform and non-reactive ( little cytoplasm)

Hematalogy Lecture (35 decks)

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