Hema 2 Lec Module 18: Nonmalignant Hereditary Disorders of Leukocytes

Pelger-Huet anomaly

Hyposegmentation of nucleus

Autosomal Dominant

True/Inherited Pelger-Huet anomaly

Inheritance pattern:

peanut or dumbbell-shaped

True/Inherited Pelger-Huet anomaly

Heterozygous nucleus:

Round

True/Inherited Pelger-Huet anomaly

Homozygous nucleus:

1. Myeloproliferative Disorders

2. Myelodysplastic Syndromes

3. Infections

4. Drugs

Pseudo/Acquired is found in:

Autosomal Dominant

Hereditary neutrophil hypersegmentation

Inheritance pattern:

Hereditary neutrophil hypersegmentation

Neutrophils are hypersegmented.

FALSE

TRUE or FALSE

Hypersegmentation is necessarily attributable to Vitamin B12 or Folic Acid Deficiency.

Autosomal Dominant

May-Hegglin anomaly

Inheritance pattern:

False

TRUE or FALSE:

May-Hegglin Bodies have the following laboratory findings:

• Gray-blue staining inclusions in cytoplasm

• Larger; More spindle-shaped

• Not found in leukocytes

Prolonged

May-Hegglin anomaly

Bleeding time:

40 - 80 x 10^9 /L

May-Hegglin anomaly

Platelet count:

Abnormal

May-Hegglin anomaly

Clot retraction:

Normal

May-Hegglin anomaly

Platelet aggregation studies:

Autosomal Recessive

Alder-Reilly anomaly

Inheritance pattern:

Alder-Reilly Bodies

Are abnormally large azurophilic and basophilic granules.

Alder-Reilly anomaly

Found in storage diseases

TRUE

TRUE or FALSE:

Toxic granulation is not found in all neutrophil forms.

Job's syndrome

Other name of Hyperimmunoglobulin E

Autosomal Dominant

Hyperimmunoglobulin E

Inheritance pattern:

neutrophil and monocyte chemotaxis

Hyperimmunoglobulin E

Defect:

Hyperimmunoglobulin E

It is when patient suffers from persistent boils, and recurrent "cold" staphylococcal abscesses.

Lazy Leukocyte syndrome

Has normal phagocytic and bactericidal activity.

defective actin filaments

In Lazy leukocyte syndrome, cells contain _____________

Rare Autosomal Recessive Disorder

Leukocyte Adhesion deficiency

Inheritance pattern:

Leukocyte Adhesion deficiency

What deficiency causes neutrophils to fail to migrate to inflammatory sites?

TRUE

TRUE or FALSE:

CD 11/18 complex or β2 integrins are responsible for:

1. Normal leukocyte motility and transendothelial migration

2. Phagocytosis and respiratory burst activation

3. Receptor for C3b opsonic complement component

2. Those that migrate are able to recognize opsonized microorganisms

Which of the following in incorrect?

When there is deficiency:

1. Neutrophils fail to migrate to inflammatory sites

2. Those that migrate are able to recognize opsonized microorganisms

3. Persistent neutrophilia during infections

Autosomal Recessive

Chediak-Higashi syndrome

Inheritance pattern:

membrane fusion protein for the secretion of the lysosomal compartment of cells

Chediak-Higashi syndrome

Defect:

FALSE

40-80 x 10^9 /L

Chédiak-Higashi syndrome has a platelet count of 100-200 x 10^9 / L

A. TRUE

B. FALSE

FALSE

Platelet Aggregation Studies: Abnormal

Chédiak-Higashi syndrome

Bleeding Time: Prolonged

Platelet Aggregation Studies: Normal

A. TRUE

B. FALSE

Sex-linked or Autosomal Recessive

Mode of Inheritance for Chronic granulomatous disease

Nitroblue-Tetrazolium Screening Test

An indirect test for respiratory burst power

chromosome 16

Chronic granulomatous disease has a defective gene in what chromosome?

TRUE

Chronic granulomatous disease is rare and detected during childhood

A. TRUE

B. FALSE

Nitroblue-Tetrazolium Screening Test

What test detects abnormal oxidase activity found in CGD ( Chronic granulomatous disease ) ?

Congenital C3 deficiency

This condition is a deficiency of complement component C3 and a autosomal recessive

TRUE

Homozygotes suffer from repeated severe infections with encapsulated bacteria

A. TRUE

B. FALSE

Myeloperoxidase deficiency

What condition is when bacterial killing is slowed but complete?

Monocytes and Macrophages System

Its function is for ingestion and disposal of foreign substances, unwanted biosynthetic products of cells and breakdown products

Mucopolysaccharidoses ( MPS )

This is due to a deficiency of specific enzymes involved in the degradation of mucopolysaccharides

Purple

In Mucopolysaccharidoses ( MPS ), Alder-Reily bodies/Reilly bodies stain _____ in toluidine blue

FALSE

Hunter Syndrome (MPS II)

Hurler Syndrome ( MPS I ) is sex- linked recessive

A. TRUE

B. FALSE

TRUE

A person with Hurler Syndrome may have mental retardation, frontal bossing, prominent eyes with hypertelorism and depressed nasal bridge, gapped teeth, gingival hypertrophy, thickened tongue.

A. TRUE

B. FALSE

Lipid storage diseases (also known as lipidoses)

What condition when macrophages of tissues become overloaded with lipid?

lipidoses

Lipid storage diseases is also known as ___________

FALSE

lipidoses

Due to lack of a functional enzyme needed for lipid breakdown mucopolysaccharidoses will occur

A. TRUE

B. FALSE

Gaucher disease

What disease is the most common in lipidoses?

FALSE

small eccentrically located nucleus

Gaucher cells are large macrophage with large eccentrically located nucleus

A. TRUE

B. FALSE

TRUE

Gaucher cells' cytoplasm is distended with glucocerebrosides

A. TRUE

B. FALSE

Gaucher disease type 1

Most common type of Gaucher disease

Gaucher disease type 2

Infantile/cerebral form

Which type of Gaucher disease?

Gaucher disease type 1

Benign in childhood/early adulthood.

Which type of Gaucher disease?

Gaucher disease type 3

Short life expectancy

Which type of Gaucher disease?

Gaucher disease type 3

No predilection for Jews

Which type of Gaucher disease?

Gaucher disease type 1

CNS not affected

Which type of Gaucher disease?

Niemann-Pick disease

A condition when there is an anbnormal accumulation of sphingomyelin and cholesterol in phagocytic and parenchymal cells

Sea-blue histiocyte Syndrome

Adult form of Niemann-Pick Type B

Niemann-Pick disease type A

Deficient activity of lysosomal hydrolase, acid sphingomyelinase

Which type of Niemann-Pick disease?

Niemann-Pick disease type B

Survive into adulthood

Which type of Niemann-Pick disease?

Niemann-Pick disease type B

No neurologic involvement

Which type of Niemann-Pick disease?

Niemann-Pick disease type A

Neurologic deterioration

Which type of Niemann-Pick disease?

DiGeorge syndrome

A defective development of thymus and parathyroid glands due to abnormal development of 3rd and 4th pharyngeal pouches

Niemann-Pick disease type A

Failure to thrive (up to 3 years old only)

Which type of Niemann-Pick disease?

X-linked ( Bruton ) agammaglobulinemia

A condition in which B-cell precursors fails to develop to mature B cells

TRUE

X-linked ( Bruton ) agammaglobulinemia is due to mutations in cytoplasmic tyrosine kinase

A. TRUE

B. FALSE

FALSE

All classes of immunoglobulins are low to absent

In X-linked ( Bruton ) agammaglobulinemia, all classes of immunoglobulins are present

A. TRUE

B. FALSE

DiGeorge syndrome

A condition characterized by the absence of a portion of chromosome 22 in the q11 region.

Wiskott-Aldrich syndrome

A disorder characterized by the dysfunction of both B- and T-cell

FALSE

Wiskott-Aldrich syndrome

DiGeorge syndrome is characterized by Eczema, Thrombocytopenia, recurrent bacterial & viral infections

A. TRUE

B. FALSE

FALSE

IgM - Low

The IgM levels are high in individuals with Wiskott-Aldrich syndrome.

A. TRUE

B. FALSE

FALSE

IgG and IgA - Normal/ Increased

The IgG and IgA levels are low in individuals with Wiskott-Aldrich syndrome.

A. TRUE

B. FALSE