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HEMA WBC DISORDERS > Must Know WBC Disorders > Flashcards

Must Know WBC Disorders Flashcards

1
Q

Gamma chain or adenosine deaminase (ADA) deficiency deficiency caused by mutations in the IL2RG gene

A

Severe Combined Immune Deficiency

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2
Q

There is a risk of bleeding due to thrombocytopenia and small abnormal platelets

A

Wiskott-Aldrich Syndrome

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3
Q

Variable degrees of immunodeficiency because of the absence or decreased size of the thymus and low numbers of T lymphocytes.

A

22q11 Syndromes

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4
Q

Reductions in all serum immunoglobulin isotypes and profoundly decreased or absent B cells.

A

Bruton Tyrosine Kinase Deficiency

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5
Q

Exhibit abnormally large lysosomes, which contain fused dysfunctional granules. S/S includes partial albinism
and severe recurrent life-threatening bacterial infections

A

Chédiak-Higashi Syndrome

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6
Q

Inability of neutrophils and monocytes to move from circulation to the site of inflammation (called extravasation).

A

Leukocyte Adhesion Disorders (Defects of Motility)

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7
Q

Decreased ability of neutrophils to undergo a respiratory burst after phagocytosis of foreign organisms.

A

Chronic granulomatous disease (CGD)

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8
Q

Decreased nuclear segmentation/hypo segmentation with “pince-nez” nuclei caused by a mutation in the lamin B receptor

A

Pelger-Huët Anomaly

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9
Q

Hyper segmented neutrophils

A

Megaloblastic anemia (Normal neutrophils contain three to five lobes that are separated by filaments)

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10
Q

Characterized by granulocytes (monocytes and lymphocytes less often) with large, darkly staining metachromatic cytoplasmic granules, also found in the mucopolysaccharidoses (MPSs)

A

Alder-Reilly Anomaly

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11
Q

Variable thrombocytopenia, giant platelets, and often thrombocytopenia caused by mutations in nonmuscle myosin heavy-chain IIA

A

May-Hegglin Anomaly

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12
Q

Defect or deficiency in the catabolic enzyme b-glucocerebrosidase causing accumulation of sphingolipid glucocerebroside in macrophages

A

Gaucher Disease
Gaucher cells- wrinkled appearance (sometimes described as onion skin-like)

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13
Q

Deficiency of sphingomyelinase and a subsequent buildup of the substrate sphingomyelin

A

Niemann-Pick Disease

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14
Q

Reactive neutrophilic leukocytosis greater than 50 x 10⁹/L with a shift to the left.

A

Leukemoid reaction

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15
Q

Dark, blue-black granules in the cytoplasm of neutrophils, usually in segmented and band form

A

Toxic Granulation
- One helpful defining characteristic of toxic granulation is that in most cases, not all neutrophils are equally affected
- Associated with inflammation & infection

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16
Q

Cytoplasmic inclusions consisting of remnants of ribosomal ribonucleic acid (RNA) arranged in parallel rows and are typically found in band and segmented neutrophils

A

Döhle bodies
(* Howell- Jolly bodies- DNA remnants in RBCs)

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17
Q

WBC malignant disorder which usually originate in the bone marrow but can invade other tissues including the lymphatic system.

A

Leukemia

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18
Q

WBC malignant disorder which usually originate in the lymphoid tissues but can invade other tissues including the bone marrow.

A

Lymphoma

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19
Q

Malignancy involving plasma cells

A

Myeloma

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20
Q

_ % blasts in bone marrow or blood are typically found in Acute leukemias

A

> 20 %

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21
Q

Myeloperoxidase and Sudan Black B (+) is present in what type of leukemia?

A

AML or myelogenous leukemias

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22
Q

Periodic acid- Schiff (+) is present in what type of leukemia?

A

Erythroleukemia, ALL or lymphocytic leukemias

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23
Q

Increased TdT activity level is present in what type of leukemia?

A

ALL (Acute Lymphoid Leukemia)

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24
Q

Philadelphia chromosome (translocation of chromosome 9 & 22 causing fusion of BCR- ABL gene) is present in what type of leukemia?

A

CML (Chronic myelogenous leukemia)

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25
Q

Difference between CML and leukemoid reaction in terms of LAP score?

A

Low- CML
High- Leukemoid reaction

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26
Q

Reider cells and smudge cells are found in what type of leukemia?

A

CLL (Chronic lymphoid Leukemia)

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27
Q

Abnormal plasma cell with red-staining cytoplasm

A

Flame cell

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28
Q

WBC malignant disorder not inhibited with tartaric acid

A

Hairy cell leukemia

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29
Q

Chromosomal analysis showing ______ (hyperdiploidy or hypodiploidy) renders a good prognosis in ALL.

A

Hyperdiploidy (excess numbers of chromosomes; as many as 51-67 chromosomes compared to the normal 46 chromosomes)

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30
Q

(+) Philadelphia chromosome in ALL indicated bad or good prognosis?

A

BAD prognosis

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31
Q

(+) Philadelphia chromosome in CML indicated bad or good prognosis?

A

GOOD prognosis

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32
Q

JAK2 V617F mutation is found in?

A

Primary polycythemia vera

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33
Q

group of genetic immunodeficiencies affecting both cellular and humoral immunity.

A

Severe combined immune deficiency (SCID)

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34
Q
  • Circulating T and natural killer (NK) lymphocytes are nearly absent.
  • B cells are adequate in number but are dysfunctional
A

Severe combined immune deficiency (SCID)

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35
Q

represents 10% to 20% of SCID cases and is caused by one of many mutations in the ADA gene located at chromosome 20q13.12.

A

Autosomal recessive adenosine deaminase ADA deficiency

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36
Q

results in an intra and extracellular accumulation of adenosine, which is lymphotoxic, leading to profound decreases in T, B, and NK cells.

A

ADA deficiency

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37
Q

is classified as a combined immunodeficiency.

A

Wiskott-Aldrich Syndrome

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38
Q

It is a rare X-linked disease caused by one of more than 400 mutations in the WAS gene, which results in decreased levels of WASp protein

A

Wiskott-Aldrich Syndrome

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39
Q

T cells are decreased; B cells, T cells and NK cells, neutrophils and monocytes are dysfunctional which leads to bacterial, viral and fungal infections.

A

Wiskott-Aldrich Syndrome

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40
Q

Classified as an antibody deficiency,

A

Bruton Tyrosine Kinase Deficiency (X-linked agammaglobulinemia)

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41
Q

primary immunodeficiency disease characterized by reductions in all serum immunoglobulin isotypes and profoundly decreased or absent B cells.

A

Bruton Tyrosine Kinase Deficiency (X-linked agammaglobulinemia)

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42
Q

is a rare autosomal recessive disease of immune dysregulation

A

Chédiak-Higashi Syndrome

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43
Q

associated with a mutation in the CHS1 LYST gene on chromosome 1q42 that encodes for a protein that regulates the morphology and function of lysosome-related organelles.

A

Chédiak-Higashi Syndrome

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44
Q

giant lysosomal granules in granulocytes, monocytes, and lymphocytes

A

Chédiak-Higashi Syndrome

45
Q

are cytoplasmic inclusions that resemble the fused lysosomal granules in Chédiak-Higashi syndrome

A

Pseudo-Chédiak-Higashi granules

46
Q

rare group of genetic diseases characterized by low neutrophil count, increased risk of infection, organ dysfunction, and a high rate of leukemic transformation

A

Congenital Defects of Phagocytes (congenital neutropenias (CNs)

47
Q

rare autosomal recessive inherited conditions resulting in the inability of neutrophils and monocytes to move from circulation to outside-in signaling.

A

Leukocyte Adhesion Disorders (Defects of Motility)

48
Q

Lymphadenopathy, splenomegaly, and neutrophilia are common findings.

A

Leukocyte Adhesion Disorders (Defects of Motility)

49
Q

molecular defects in SLC35C1, which codes for a fucose transporter that moves fucose from the endoplasmic reticulum to the Golgi region.

A

LAD II

50
Q

caused by mutations in Kindlin-3 ( Kindlin-3 protein along with talin are required for activation of b integrin and leukocyte rolling.)

A

LAD III

51
Q

is a defect in leukocyte motility.

A

Shwachman-Diamond syndrome (SDS)

52
Q

rare autosomal recessive disease caused by mutations in the SBDS gene located at 7q11.22.

A

Shwachman-Diamond syndrome (SDS)

53
Q

affects the SBDS protein product which has an important role in ribosomal maturation, cell proliferation and bone marrow microenvironment.

A

Shwachman-Diamond syndrome (SDS)

54
Q

rare condition caused by the decreased ability of neutrophils to undergo a respiratory burst after phagocytosis of foreign organisms.

A

Defects of Respiratory Burst (Chronic granulomatous disease (CGD)

55
Q

caused by mutations in genes responsible for proteins that make up the reduced form of nicotinamide adenine dinucleotide phosphate (NADPH) oxidase.

A

Defects of Respiratory Burst (Chronic granulomatous disease (CGD)

56
Q

patients experience life-threatening catalase-positive bacterial and fungal infections.

A

Defects of Respiratory Burst (Chronic granulomatous disease (CGD)

57
Q

is classified as a defect in intrinsic and innate immunity. results from mutations in the CXCR4 gene located at 2q22.

A

WHIM Syndrome (warts, hypogammaglobulinemia, infections, and myelokathexis syndrome)

58
Q

neutropenia, lymphopenia, monocytopenia, and hypogammaglobulinemia are present.

A

WHIM Syndrome (warts, hypogammaglobulinemia, infections, and myelokathexis syndrome)

59
Q

As a result, patients experience recurrent bacterial infections and are highly susceptible to human papillomavirus (HPV) infection, which leads to warts, which can be widespread and resistant to treatment.

A

WHIM Syndrome (warts, hypogammaglobulinemia, infections, and myelokathexis syndrome)

60
Q

also known as true or congenital PHA

A

Pelger-Huët anomaly (PHA)

61
Q

an autosomal dominant disorder characterized by decreased nuclear segmentation and distinctive coarse chro- matin clumping pattern.

A

Pelger-Huët anomaly (PHA)

62
Q

It potentially affects all leukocytes

A

Pelger-Huët anomaly (PHA)

63
Q

The disorder is a result of a mutation in the lamin b-receptor gene (The lamin b receptor is an inner nuclear membrane protein that combines b-type lamins and heterochromatin and plays a major role in leukocyte nuclear shape changes that occur during normal maturation.)

A

Pelger-Huët anomaly (PHA)

64
Q
  • round, ovoid, or peanut shaped
  • Bilobed forms— the characteristic spectacle-like (“pince-nez”) morphology with the nuclei attached by a thin filament can also be seen.
A

Pelger-Huët anomaly (PHA)

65
Q

associated with severe bacterial infections, HIV, tuberculosis, and mycoplasma pneumonia

A

Pseudo- or Acquired Pelger-Huët Anomaly

66
Q

Neutrophils with similar morphology to PHA can be seen in patients with MDS, acute myeloid leukemia, and myeloproliferative neoplasm.

A

Pseudo- or Acquired Pelger-Huët Anomaly

67
Q

have more than five lobes and are most often associated with megaloblastic anemia

A

Neutrophil Hypersegmentation

68
Q

also be seen in MDS where they represent a form of dysplasia.

A

Neutrophil Hypersegmentation

69
Q

a rare inherited disorder characterized by granulocytes (monocytes and lymphocytes less often) with large, darkly staining metachromatic cytoplasmic granules.

A

Alder-Reilly Anomaly

70
Q

Initially reported in patients with gargoylism; however, it can be seen in otherwise healthy indi- viduals.

A

Alder-Reilly Anomaly

71
Q

The characteristic granulation, called Reilly bodies, is also found in the mucopolysaccharidoses (MPSs). The cytoplasmic granules contain partially digested mucopolysaccharides.

A

Alder-Reilly Anomaly

72
Q

Reilly bodies can also be present in monocytes and lymphocytes, whereas toxic granulation occurs only in neutrophils.

A

Alder-Reilly Anomaly

73
Q

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

A

May-Hegglin Anomaly

74
Q

caused by a mutation in the MYH9 gene on chromosome 22q12-13.

A

May-Hegglin Anomaly

75
Q

group of more than 50 inherited enzyme deficiencies resulting from mutations in genes that code for the production of lysosomal enzymes

A

Lysosomal Storage Diseases

76
Q

result is flawed degradation of phagocytized material and buildup of undigested substrates within lysosomes. This causes cell dysfunction, cell death, and a range of clinical symptoms. All cells containing lysosomes can be affected..

A

Lysosomal Storage Diseases

77
Q

caused by deficient activity of an enzyme necessary for the deg- radation of dermatan sulfate, heparan sulfate, keratan sulfate, and/or chondroitin sulfate.

A

Mucopolysaccharidoses

78
Q

The partially degraded material builds up in lysosomes and results in serious physical and cog- nitive problems and shortened survival.

A

Mucopolysaccharidoses

79
Q

most common of the lysosomal lipid storage diseases.

A

Gaucher Disease

80
Q

autosomal recessive disorder caused by a defect or deficiency in the catabolic enzyme b-glucocerebrosidase (gene located at 1q21-q22), which is necessary for glycolipid metabolism.

A

Gaucher Disease

81
Q

an accumulation of fat in cellular lysosomes of vital organs, which impairs their function, leading to a range of clinical findings.

A

Niemann-Pick Disease

82
Q

An absolute increase in neutrophils greater than 7.0 3 10 /L in adults or 8.5 3 10 /L in children

A

Neutrophilia

83
Q

occur as a result of catecholamine-induced shift in neutrophils from the marginal pool (cells normally adhering to vessel walls) to the circulating pool.

A

Neutrophilia

84
Q

often accompanied by a left shift.

A

Neutrophilia

85
Q

a reactive neutrophilic leukocytosis greater than 50 3 109/L with a shift to the left.

A

Leukemoid reaction

86
Q

caused by acute and chronic infections, metabolic disease, or inflammation or occur as part of an inflammatory response to malignancy.

A

Leukemoid reaction

87
Q

refers to the simultaneous presence of immature neutrophils, nucleated red blood cells, and teardrop red blood cells (RBCs).

A

Leukoerythroblastic reaction

88
Q

is defined as a decrease in the ANC to less than 2.0 3 109/L in white adults or 1.3 3 109/L in black adults.

A

Neutropenia

89
Q

refers to a neutrophil count of less than 0.1 3 109/L. Some causes of neutropenia are

A

Agranulocytosis

90
Q

increased rate of removal or destruction of peripheral blood neutrophils

A

Agranulocytosis

91
Q

ewer neutrophils re- leased from the bone marrow to the blood because of decreased
production or ineffective hematopoiesis, where neutrophils are present in the bone marrow but not released into circulation be- cause they are defective

A

Agranulocytosis

92
Q

Medications are the most common causes of acquired neutropenia. Neutropenia has been associated with almost all classes of drugs and is a result of myeloid suppression or immunologic response.

A

Drug-induced neutropenia

93
Q

bone marrow proliferation rate and release into the blood- stream, movement from the blood into extravascular tissues, and cell survival and destruction after eosinophils have moved into the tissues.

A

Eosinophils

94
Q

is defined as an absolute eosinophil count greater than 0.4 3 109/L.

A

Eosinophilia

95
Q

Major function is degranulation, where substances are released that damage an offending organism (i.e., parasites) or target cell

A

Eosinophilia

96
Q

is associated with parasitic infections, especially helminths. It is also associated with allergic reactions, including asthma, rhinitis, urticaria, and atopic dermatitis;

A

Eosinophilia

97
Q

defined as an absolute eosinophil count of less than 0.09 3 109/L and can be difficult to detect because the reference interval is low.

A

Eosinopenia

98
Q

been reported in autoimmune disorders, steroid therapy, stress, sepsis, and acute inflammatory states.

A

Eosinopenia

99
Q

is defined as an absolute basophil count greater than 0.15 3 109/L

A

Basophils

100
Q

associated with chronic myeloid leukemia, allergic rhinitis, hypersensitivity to drugs or food, chronic infections, hypothyroidism, chronic inflammatory conditions, radiation therapy, and bee stings.

A

Basophils

101
Q

defined as an absolute monocyte count greater than 1.0 3 109/L in adults and greater than 3.5 3 109/L in neonates.

A

Monocytosis

102
Q

associated with numerous conditions because of their role in acute and chronic inflammation and infections, immunologic conditions, hypersensitivity reactions, and tissue repair.

A

Monocytosis

103
Q

often the first sign of recovery after myelosuppression.

A

Monocytosis

104
Q

defined as an absolute monocyte count of less than 0.2 3 109/L, is very rare in conditions that do not also involve cytopenias of other lineages, such as aplastic ane- mia or chemotherapy-induced cytopenias.

A

Monocytopenia

105
Q

has been found in patients receiving steroid therapy75 or he- modialysis and in sepsis.

A

Monocytopenia

106
Q

Identification of lymphocytosis varies with the age of the individual. Children between 2 weeks and 8 to 10 years of age have higher absolute lymphocyte counts than adults. In adults, lymphocytes represent 20% to 40% of circulating leukocytes.

A

Lymphocytes

107
Q
  • in children is defined as an absolute lymphocyte count greater than 10.0 3 109/L,
  • whereas in adults it is defined as a count greater than 5.0 3 109/L.
A

Lymphocytosis

108
Q
  • in children is defined as an absolute lymphocyte count less than 2.0 3 109/L,
  • whereas in adults it is defined as a count less than 1.0 3 109/L.
A

Lymphocytopenia

HEMA WBC DISORDERS (1 decks)

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