UNIT 1.2

Question 1

ILR2G gene located at Xq13.1.2
chromosome 10

Answer 1

SEVERE COMBINED
IMMUNODEFICIENCY SYNDROME

Question 2

X-linked disease caused by one
of more than 400 mutations in
the WAS gene.

Answer 2

WISKOTTALDRICH SYNDROME

Question 3

Also known as 22q21.2
deletion syndrome.
○ A syndrome caused by
the deletion of a small segment of chromosome
22.

Answer 3

DIGEORGE SYNDROME / 22q11
SYNDROME

Question 4

Mutation in CHS1 LYST gene on chromosome 1q42.1-2

Answer 4

CHÉDIAKHIGASHI SYNDROME

Question 5

Mutation in ILR2G gene which
codes for common gamma chain
in leukocyte receptors that bind
with ILN 2, 4, 7 , 9, 15 and 21

Answer 5

X- linked SCID

Question 6

Patients become symptomatic
within 36 months of age.
○ Death usually at age 2, unless
hematopoietic stem cell
transplant or gene therapy is
successful.

Answer 6

X-linked SCID

Question 7

Caused by one of the many
mutations in the ADA gene
located in chromosome
20q.13.12.4

Answer 7

ADA DEFICIENCY

Question 8

Patient will experience recurring
threatening bacterial, fungal,
and viral infections
○ Skeletal abnormalities,
neurologic deficits, skin rashes

Answer 8

ADA deficiency

Question 9

T cells are decreased; B cells, T
cells and NK cells, neutrophils
and monocytes are
dysfunctional.
● Microthrombocytopenia:

Answer 9

WISKOTTALDRICH SYNDROME

Question 10

very important
in cytoskeletal remodelling and
nuclear transcription

Answer 10

WASp protein

Question 11

Common signs: Hooded eyes,
a relatively long face, small,
low-set ears.
○ Cleft lip and cleft palate

Answer 11

DIGEORGE SYNDROME

Question 12

Hematologic issues include
thrombocytopenia and large
platelets, autoimmune
cytopenias, and increased risk
of malignancy.

Answer 12

22q11 syndrome

Question 13

Thymic tissue
transplantation or fully
matched peripheral blood T
cell transplantation

Answer 13

DIGEORGE SYNDROME / 22q11
SYNDROME

Question 14

Known for its cardiac defects,
and distinctive facial features

Answer 14

DIGEORGE SYNDROME / 22q11
SYNDROME

Question 15

Abnormal function of granules.
● Giant lysosomal granules in
granulocytes, monocytes, and
lymphocytes.

Answer 15

CHÉDIAKHIGASHI SYNDROME

Question 16

Clinical manifestations begin in
infancy with partial albinism
and severe recurrent
life-threatening bacterial
infections.

Answer 16

CHÉDIAKHIGASHI SYNDROME

Question 17

Hair, skin, adrenal and pituitary
glands, and nerves;
● Leukocyte dysfunction and
recurrent pyogenic infections.

Answer 17

CHÉDIAKHIGASHI SYNDROME

Question 18

There is whitening of hair and
skin.
● Many types of cells in the body
are affected, and exhibit
abnormally large lysosomes.
● Could have bleeding issues
due to abnormal dense
granules in the platelets.
● Deaths can occur.
○ Death occurs before the
age of 10 years.

Answer 18

Chédiak-Higashi
Syndrome

Question 19

These are cytoplasmic
inclusions that almost
resemble the fused lysosomal
granules in Chédiak-Higashi.
● Have been reported in patients
with acute myeloid leukemia,
chronic myeloid leukemia, and
dysplastic syndrome.

Answer 19

Pseudo Chédiak-Higashi
Syndrome

Question 20

BTK gene encoding defect

Answer 20

BRUTON TYROSINE KINASE BTK
DEFICIENCY

Question 21

Mutation in ITGB2, the gene
encoding the CD18 subunit of
B2 integrins.

Answer 21

LAD 1

Question 22

necessary for
adhesion to endothelial
cells, recognition of
bacteria and outside – in
signaling.

Answer 22

B2 integrin

LAD 1

Question 23

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

Answer 23

LAD 2

Question 24

is the absence of blood
group H antigen, growth
retardation, and neurologic
defects.

Answer 24

defective fucose transport

SLC35C1

Question 25

Mutations in genes responsible for proteins that make up the reduced form of nicotinamide adenine dinucleotide phosphate NADPH.

Answer 25

chronic granulomatous disease (CGD)

Question 26

Mutations: mutations in the CXCR4 gene located at 2q22.

Answer 26

WHIM syndrome

Question 27

Lymphocytes fail to mature

Answer 27

BTK DEFICIENCY

Question 28

Leads to severe hypogamma-globulinemia ● Inability to produce specific antibodies ● Symptoms: 46 months once maternal antibodies cleared.

Answer 28

BTK DEFICIENCY

Question 29

Consists of immunoglobulin replacement therapy.

Answer 29

BTK DEFICIENCY

Question 30

An antibody deficiency. ● An immunodeficiency with no gamma globulins. ● Reduced production of BTK which is important in B-cell development and differentiation. ● Without BTK, B-lymphocytes fail to mature, leading to severe hypogammaglobulinemia.

Answer 30

BTK DEFICIENCY

Question 31

Appears at 46 months since the protective material of the antibodies start to dwindle down. ● Recurring life threatening infections can occur. The infection is slow because there is normal T-cell function.

Answer 31

BTK DEFICIENCY

Question 32

Skin and mucosal infections. ● Lymphadenopathy, splenomegaly, and neutrophilia.

Answer 32

LAD 1 - ITGB2

Question 33

Recurring infections, neutrophilia, growth retardation, a coarse face, and other physical deformities.

Answer 33

LAD 2 - SLC35C1

Question 34

Hematopoietic stem cell transplant is an option for patients with bone marrow failure, myelodysplastic syndrome MDS, and acute leukemia.

Answer 34

LAD

Question 35

In newborns, the umbilical cord does not fall off in the first week and remains to be there for weeks and months, and this is the first manifestation of __________

Answer 35

LAD

Question 36

__________ has a similar manner with LAD I but leukocytes have normal beta II integrins

Answer 36

LAD 2

Question 37

___________codes for a fucose transporter, and _______ is needed for post-translational glycosylation of glycoconjugates.

Answer 37

SLC35C1; FUCOSE

Question 38

Advancements like prophylactic antibiotics and azole antifungals have improved disease outcomes and survival rates.

Answer 38

CHRONIC GRANULOMATOUS DISEASE

Question 39

Neutrophils accumulate in the bone marrow (myelokathexis), which results in low numbers of circulating neutrophils.

Answer 39

WHIM SYNDROME

Question 40

WARTS, hypogammaglobulinemia, infections, and myelokathexis syndrome. ● Neutropenia, lymphopenia, monocytopenia, and hypogammaglobulinemia are present.

Answer 40

WHIM SYNDROME

Question 41

regulates the movement of white blood cells within the bone marrow

Answer 41

CXCR4 protein

Question 42

Autosomal dominant Mutation in lamin β-receptor gene

Answer 42

PELGER HUET ANOMALY

Question 43

Commonly seen in peripheral blood smear. ● Pince-nez bilobed nuclear, connected by very thin filament.

Answer 43

PSEUDO OR ACQUIRED PELGER HUET ANOMALY

Question 44

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

Answer 44

NEUTROPHIL HYPERSEGMENTATION

Question 45

Rare inherited disorder Granulocytes (monocytes and lymphocytes less often) with large, darkly staining metachromatic cytoplasmic granules Gargoylism, seen in healthy individuals, Mucopolysaccharidoses MPSs

Answer 45

ALDER REILLY SYNDROME

Question 46

AR bodies in neutrophils may resemble heavy toxic granulation

Answer 46

TRUE

Question 47

Mutation in the MYH9 gene on chr 22q12-13

Answer 47

MAY HEGGLIN ANOMALY

Question 48

Thrombocytopenia, giant platelets, large Döhle body-like inclusions in neutrophils, eosinophils, basophils, and monocytes Myosin heavy chain type IIA

Answer 48

MAY HEGGLIN ANOMALY

Question 49

Also known as true or congenital PHA. ● Potentially affects all leukocytes, although morphological changes are more obvious in mature neutrophils

Answer 49

PELGER HUET ANOMALY

Question 50

an inner nuclear membrane protein that combines B type lamins and heterochromatin, and displays a major role in leukocyte nuclear shape changes that occur during normal maturation.

Answer 50

LAMIN B PELGER HUET

Question 51

Leukocyte function is not affected

Answer 51

ALDER REILLEY

Question 52

which affects megakaryocyte maturation and platelets fragmentation when shedding from megakaryocytes.

Answer 52

MYOSIN HEAVY CHAIN TYPE 2A

Question 53

Enzymes for degrading dermatan, heparan, keratin/chondroitin sulfate. ALDER REILY

Answer 53

MUCOPOLYSACCHARIDOSIS

Question 54

AR, catabolic enzymes b-glucocerebrosidase (glycolipid metabolism)

Answer 54

GAUCHER DISEASE

Question 55

_______ contribute to anemia and thrombocytopenia.

Answer 55

GAUCHER CELLS

Question 56

Most common cause of lysosomal lipid storage disease.

Answer 56

GAUCHER DISEASE

Question 57

B-glucocerebrosidase is located in chromosome ________

Answer 57

1q21

Question 58

Accumulation of unmetabolized substrates sphingolipid glucocerebroside in Macrophages. ● Gaucher cells are defective cells, leading to cell death.

Answer 58

GAUCHER DISEASE

Question 59

Deficiency of lysosomal hydrolase enzyme acid sphingomyelin-ase ASM

Answer 59

NIEMANN PICK DISEASE

Question 60

Foam cells and sea-blue histiocytes can be seen in the bone marrow

Answer 60

NIEMANN PICK DISEASE

Question 61

Accumulation of fat in cellular lysosomes of vital organs, which impairs their function.

Answer 61

NIEMANN PICK DISEASE

Question 62

caused by recessive mutation in SMPD1 Gene, resulting to deficiency of lysosomal hydrolase enzyme, acid sphingomyelinase and subsequent build up of substrates sphingomyelin in liver, spleen and lungs.

Answer 62

NIEMANN PICK DISEASE SMDP1

Question 63

An absolute increase in neutrophils greater than 7 .0 x 109/L in adults or 8.5 x 109/L in children.

Answer 63

NEUTROPHILIA

Question 64

is often accompanied by a left shift.

Answer 64

NEUTROPHILIA

Question 65

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

Answer 65

LEUKEMOID REACTION

Question 66

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

Answer 66

LEUKOERYTHROBLASTIC REACTION

Question 67

caused by metabolic diseases, or can occur as part of an inflammatory response to malignancy

Answer 67

LEUKEMOID REACTION

Question 68

Defined as a decrease in the ANC to less than 2.0 x 109/L in white adults or 1.3 x 109/L in black adults.

Answer 68

NEUTROPENIA

Question 69

0.5 x 109/L

Answer 69

SEVERE NEUTROPENIA

Question 70

Defined as an absolute eosinophil count greater than 0.4 x 109/L.

Answer 70

eosinophilia

Question 71

is associated with parasitic infections, especially helminths.

Answer 71

eosinophilia

Question 72

It is also associated with allergic reactions, including asthma, rhinitis, urticaria, and atopic dermatitis

Answer 72

eosinophilia

Question 73

scabies infestation, scarlet fever, HIV, primary biliary cirrhosis, hepatitis, autoimmune disorders, drug reactions, and some hematologic neoplasms.

Answer 73

eosinophilia

Question 74

Absolute eosinophil count of less than 0.09 x 109/L.

Answer 74

eosinopenia

Question 75

Accompanies other cytopenias in conditions that result in marrow hypoplasia, specifically involving leukocytes.

Answer 75

eosinopenia

Question 76

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

Answer 76

eosinopenia

Question 77

Absolute basophil count greater than 0.15 x 109/L.

Answer 77

basophilia

Question 78

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

Answer 78

basophilia

Question 79

In addition to myeloid neoplasms, _______ is associated with atopic disorders, chronic iron deficiency, classic Hodgkin lymphoma, smallpox, and chickenpox.

Answer 79

basophilia

Question 80

where monocytosis occurs during periods of neutropenia in the 21-day cycle.

Answer 80

Congenital cyclic neutropenia,

Question 81

Absolute monocyte count greater than 1.0 x 109/L in adults; greater than 3.5 x 109/L in neonates.

Answer 81

monocytosis

Question 82

is often the first sign of recovery after myelosuppression.

Answer 82

monocytosis

Question 83

Absolute monocyte count of less than 0.2 x 109/L.

Answer 83

monocytopenia

Question 84

Children is defined as an ● It is usually accompanied by reactive or malignant changes in morphology. absolute lymphocyte count greater than 10.0 x 109/L. Adults it is defined as a count greater than 5.0 x 109/L.

Answer 84

LYMPHOCYTOSIS

Question 85

An absolute lymphocyte count less than 2.0 x 109/L. ● Adults it is defined as a count less than 1.0 x 109/L.

Answer 85

LYMPHOCYTOPENIA OR LYMPHOPENIA

Question 86

has been found in patients receiving steroid therapy or hemodialysis and in sepsis. ● Viral infections, especially those caused by the Epstein-Barr virus EBV,

Answer 86

monocytopenia

Question 87

associated with hairy cell leukemia.

Answer 87

monocytopenia