Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Chemical Pathology > Immunodeficiency > Flashcards

Immunodeficiency Flashcards

1
Q

What is immunity?

A

Immunity is the ability of the human body to *tolerate the presence of material indigenous to the body (“self”), and to *eliminate foreign (“nonself”) material.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What is immunodeficiency ?

A

Immunodeficiency (or immune deficiency) is a state in which the *immune system’s ability to fight infectious disease and cancer is compromised or entirely absent

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What are primary immune deficiencies?

A

Genetic or developmental defects in the immune system which are present at birth but may show up later on in life.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Secondary or acquired immunodeficiency is defined as?

A

This is defined as the loss of immune function as a result of exposure to disease agents, environmental factors, immunosuppression, or aging.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

A person who has an immunodeficiency of any kind is said to be?

A

immunocompromised

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Classification if primary immune disorders?

A

Based in the component of the immune system that’s deficient, absent or defective
- Humoral immunity
- cellular immunity
- Combined humoral and cellar immunity
- Phagocytic cells
- Complement proteins

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Disorders of specific immune system includes? (Defects in T,B or immunoglobulins)

A
  • Reticular dysgenesis
  • Severe combined immunodeficiency (SCID)
  • Disorders of T cell
  • Disorders of B cell
  • Disorders if T cell with variable B-cell function
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Other names for Reticular Dysgenesis ?

A
  • Also known as AK2 deficiency
  • Also known as congenital aleukocytosis
  • Also known as De Vaal disease
  • Also known as Generalized hematopoietic hypoplasia
  • Also known as SCID with leukopenia
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What kind of mutation is seen in Reticular dysgenesis ?

A
  • Inherited autosomal recessive disease
  • mutations in both copies of AK2 gene
  • Patients with RD have a genetic defect that affects the T cells and at least one other type of immune cell.
  • Since more than one type of immune cell is affected, this disease is classified as a severe combined immunodeficiency disease (SCID).
  • Treated with BMT, often fatal
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Mutations in AK2 gene leads to what?

A
  • Absence of AK2 protein then, hematopoietic stem cells will not be able to differentiate or proliferate
  • Patients with RD have a genetic defect that affects the T cells and at least one other type of immune cell.
  • A weakened immune system leaves patients susceptible to different kinds of infection. Commonly, patients who are diagnosed with RD also have bacterial sepsis and/or pneumonia
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Sever combined immunodeficiency (SCID) entails?

A
  • Lymphoid progenitor cells are defective, both the T and B cell lineages are affected and result in the SCID
  • Both are characterized by an absence of T cell and B cell immunity and absence (or very low numbers) of circulating T and B lymphocytes
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

X-linked SCID is as a result of what?

A

X-linked SCID is due to a defect in IL-2 which is involved in lymphocyte proliferation and/or differentiation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Autosomal SCID is as a result of ?

A
  • Autosomal SCIDs arise primarily from defects in adenosine deaminase (ADA) or purine nucleoside phosphorylase (PNP) genes
  • Which results is accumulation of dATP or dGTP, respectively, and cause toxicity to lymphoid stem cells
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Precautions in patient with SCID

A

If suspected of SCID, the patient must not receive live vaccine, as it will result in progressing disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Disorders of T cell affect which type of immunity ?

A
  • T cell disorders affect both cell-mediated and humoral immunity
  • making the patient susceptible to viral, protozoal and fungal infections.
  • Viral infections such as those by cytomegalovirus and attenuated measles in the vaccine can be fatal in these patients.
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

DiGeorge’s Syndrome chromosomal abnormality found ?

A
  • It is also known as 22q11.2 Deletion Syndrome
  • It is autosomal dominant and is caused by a deletion of a small segment of chromosome 22
17
Q

The most clearly defined T cell immunodeficiency is ?

A

DiGeorge’s Syndrome

18
Q

Embryonic implication of DiGeorges syndrome ?

A
  • Portions of the heart, head and neck, thymus, and parathyroids derive from the third and fourth pharyngeal pouches, and this developmental field is disrupted due to the chromosomal microdeletion.
  • During the 6th to 10th week
19
Q

Clinical manifestations if DGS?

A
  • associated with hypoparathyroidism, congenital heart disease, low set notched ears and fish shaped mouth
20
Q

Treatment of DGS?

A

A thymic graft taken from an early fetus (13 - 14 weeks of gestation) can be used for treatment.

•Older grafts may result in GVH reaction

21
Q

Examples of T Cell deficiency with variable degrees of b cell deficiency ?

A

Ataxia-telangiectasia

22
Q

What’s are the features of Ataxia talengiectasia ?

A
  • **Deficiency of T cells*^ associated with a lack of coordination of movement (ataxis) and dilation of small blood vessels of the facial area (telangiectasis).
  • T cells are reduced
  • B cell and IgM are considered normal or low
  • IgG is reduced
  • IgA is considerable reduced
23
Q

Incidence of malignancies increase with patients Ataxia telangiectasia due to ?

A

Breakage in chromosome 14 and immunoglobulin heavy chain genes

24
Q

Wiskott - Aldrich syndrome features?

A
  • Associated with normal T cell numbers with reduced functions, that gets progressively worse
  • IgM levels are reduced
  • IgG levels are normal.
  • Both IgA and igE levels are elevated
25
Q

Symptoms of Wiskott Aldrich syndrome

A
  • Eczema
  • Petechia (platelet and thrombocytopenia)
  • X linked disorder
  • Respond poorly to Polysaccharide antigens and are prone to pyogenic infections
26
Q

Disorders of B lymphocytes ?

A
  • T cell numbers and function are normal
  • B cell numbers may be low or normal but immunoglobulin levels are low
    1) X linked infantile hypogammaglobulinemia
    2) Transient hypogammaglobulinemia
    3) common variable hypogammaglobulinemia
    4) IgA deficiency
    5) Selective igG deficiency
    6) x linked hyper IgM immunodeficiency
27
Q

X linked infantile hypogammaglobulinemia is also referred to as ?

A

Bruton’s hypogammaglobulinemia
Agammaglobulinemia

28
Q

The most severe form of hypogammaglobulinemia is ?

A

X linked infantile hypogammaglobulinemia
- B cell numbers and all IG levels are low
- Failure of maturation of BCell,
- B cells exist as pre-B cells with H chains rearranged but not light chains

29
Q

What’s the IgG at birth in relation to the mother?

A
  • At birth, IgG levels are comparable to that of the mother
  • Half life of IgG is 30 days, it gradually declined
  • by 3 months of age normal infants begin to synthesize their own IgG
30
Q

In Transient hypogammaglobulinemia what happen?

A

Some infants do not begin to synthesize their own igG until they are 2-3years old
- Delay due to poor Tcell help
- Results in a transient deficiency which can be treated with gamma globulins

31
Q

Late onset hypogammaglobulinemia features?

A
  • Deficiency of igG and IgA in the 2nd or 3rd decade of their life
  • B cells fail to differentiate into plasma cells
  • treated with gamma globulin IV
  • patients are susceptible to variety of pyogenic bacteria and intestinal Protozoa

Chemical Pathology (8 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions