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Immunodeficiences > Immunodeficiences Final > Flashcards

Immunodeficiences Final Flashcards

1
Q

Primary Immunodeficiencies

A

X linked agammaglobulinemia: XLA Bruton Disease
Selective IgA deficiency
Common variable immunodeficiency
Thymic hypoplsia: DiGeorge Syndrome
Severe combined immunodificiency
Genetic Deficiencies of complement components (Hereditary angioedema)

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2
Q

Secondary Immunodeficiences

A 
Malnutrition
Infection
Cancer
Renal Disease
Sarcoidosis
Transplantation Recipients
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3
Q

Innate Immunity

A

Complement
Neutrophils
Macrophages
Natural killer Cells

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4
Q

Acquired Immunity

A

B Cells
Helper T Cells
Antibodies made by plasma cells
Cytotoxic T Cells

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5
Q

predominant feature of impaired immune function is?

A

Infection (more severe, frequent recurrences, Not responsive to ordinarily effect Rx)
other Clinical Signs: physical disorders: face skeleton, intestines, heart , hair or pigmentation
Failure to thrive
Doesnt achieve or maintain expected physical growth or development for age: Decreased height and wt. /// Delayed developmental skills

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6
Q

children with health immune systems

A

6-8 respiratory tract infections/yr for first 10-12 years

may experience 6 episodes of otitis and 2 episodes of gastroenteritis/yr for first 2-3 years

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7
Q

Child with Immunodeficiency

A

primary care: prompt and aggressive treatment of infection, may require prophylactic rx
Live virus vaccines (Oral polio, varicella, MMR, intranasal influeza and BCG-Bacille Calmette Geurin for TB) SHOULD NOT BE GIVEN (hosehold contacts cannot recieve oral polio)
If blood transfusion necessary give irradiated leukocyte poor, virus free procucts

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8
Q

Primary Immunodeficiencies

A 
B cell deficiencies
T cell deficiency
B & T cell (combined)
Complement Deficiencies
Defective Phagocytes
Unknown (Idiopathic)
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9
Q

Laboratory Eval of immunodeficiency

A 
Complete Blood Count with peripheral
Lymphocyte Imunophenotyping (B and T cells types)
Quantitative Immunoglobulins (IgA, IgG, IgM)
Protein Electrophoresis (Serum Protein SPEP)
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10
Q

Lab Evaluation

A

CBC: look at wbc and lymphocytes
evaluate for CD4+ and CD8+
Do CH50 and AH50 & look at classical and alternative pathway in complement system
Look at cell mediated immunity through intradermal injections of tetanus, dipth , candida and trichphyton

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11
Q

Lab Evaluation

A

1st screening
WBC count and differential of # of PMN and lymphocyes and all classes of antibodies
2nd screening
IG electrophoresis to see if have IgM, IgE and IgA

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12
Q

X linked Hypogammaglobulinemia (XLA, Brutons, Agammaglobulinemia)

A

XLA is a primary humoral immunodeficiency characterized by severe hypogammaglobulinemia, antibody deficiency, and increased susceptibility to infection.
Due to mutation in the gene encoding Bruton tyrosine kinase (Btk), an important signal transduction protein
Incidence of approximately 1/379,000 live births (1/190,000 male births)
Found mostly in young boys
Female carriers are immunocompetant

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13
Q

B-Cell Deficiencies:X-Linked Hypogammaglobulinemia (XLA, Bruton’s Agammaglobulinemia)

A

Virtual absence of B cells
Very low levels of all immunoglobulins (IgG, IgA, IgM, IgD, and IgE)
Normal T cell responses-cell mediated immunity intact

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14
Q

B-Cell Deficiencies:X-Linked Hypogammaglobulinemia (XLA, Bruton’s Agammaglobulinemia)

A

Clinical features
Symptoms present in infants at about 6 mos of age
when maternal antibody is no longer present in sufficient amount to be protective
Recurrent pyogenic bacterial infections
otitis media, sinusitis, and pneumonia caused by Streptococcus pneumoniae and Haemophilus influenzae
May have the absence of tonsils and adenoids
May have failure to thrive/growth delay

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15
Q

B-Cell Deficiencies:X-Linked Hypogammaglobulinemia (XLA, Bruton’s Agammaglobulinemia)

A

Treatment
Replacement of immunoglobulin is the cornerstone of treatment for XLA
intravenous immune globulin G (IGIV or IVIG)
subcutaneous immune globulin G (IGSC or SCIG)
The dose is determined by a combination of the patient’s weight, trough levels of IgG after tx has commenced, and the clinical response and condition of the patient
reduces the number and intensity of infections

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16
Q

B-Cell Deficiencies Selective IgA Immunoglobulin Deficiency

A

Selective IgA deficiency (sIgAD) is defined as decreased serum IgA levels with normal serum levels of IgG and IgM and in the absence of any other immune deficiency disorder.
The diagnosis should only be made after age 4, since antibody levels in younger children can be depressed in the absence of any immune dysfunction.

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17
Q

Selective IgA Immunoglobulin Deficiency

A

Most common primary immunodeficiency in adults
Prevalence: 1 in 500-700 individuals (~0.3% of population)

Pathology/Pathogenesis
Defect is inability of B cells to terminally differentiate into IgA-secreting plasma cells
Serum IgA levels are low, often <5 mg/dL

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18
Q

B-Cell Deficiencies Selective IgA Immunoglobulin Deficiency

A

Presentation
Incidental finding with few or no clinical features in most persons
Possibly due to normal IgG and IgM levels
However, there is an increased incidence of recurrent SINOPULMONARY infections as well as infections of the GI tract, conjunctiva, and respiratory tract
Also, increased incidence of
Allergies
Asthma
Autoimmune diseases

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19
Q

B-Cell Deficiencies Specific IgA Immunoglobulin Deficiency

A

Treatment
No specific treatment
Prompt appropriate antibiotic therapy for recurrent infections
Patients with a deficiency of IgA
Should not be transfused
Should not be treated with gamma globulin
Anaphylactic Hypersensitivity may occur
Very little IgA in preparation
Patients may form antibodies against the foreign IgA
Cross-reaction will deplete their already low level of IgA

20
Q

B-Cell Deficiencies:Common Variable Immunodeficiency

A

Common variable immunodeficiency (CVID) is impaired B cell differentiation with defective immunoglobulin production
defined by:
Markedly reduced serum concentrations of IgG, in combination with low levels of IgAand/orIgM
Poor or absent response to immunizations
An absence of any other defined immunodeficiency state

21
Q

B-Cell Deficiencies:Common Variable Immunodeficiency

A

Not a single disease, but rather a collection of hypogammaglobulinemia syndromes resulting from many genetic defects.
In some pts. specific molecular defects have been identified; although in most cases the cause is unknown

Variable in time of onset and in immunologic pattern

22
Q

B-Cell Deficiencies:Common Variable Immunodeficiency

A

Normal numbers of B lymphocytes
phenotypically IMMATURE
B lymphocytes are able to recognize antigens
respond with proliferation
but they are impaired in their ability to become memory B cells and mature plasma cells

23
Q

B-Cell Deficiencies:Common Variable Immunodeficiency

A

Presentation
Recurrent sinopulmonary infections including sinusitis, otitis, bronchitis, pneumonia, TB and fungal infections (respiratory failure principle cause of death)

ALSO have evidence of immune dysregulation leading to autoimmunity, inflammatory disorders, and malignant disease.
chronic lung disease
gastrointestinal and liver disorders
granulomatous infiltrations of several organs
lymphoid hyperplasia
splenomegaly
malignancy

24
Q

B-Cell Deficiencies:Common Variable Immunodeficiency

A

Delayed recognition of CVID is common
the clinical manifestations affect multiple organ systems
pts often have been evaluated by several specialists by the time they are diagnosed.
an average of 5 to 7 years between onset of symptoms and diagnosis

25
Q

B-Cell Deficiencies:Common Variable Immunodeficiency

A

Consider the diagnosis of common variable immunodeficiency in adults with
Chronic pulmonary infections, some of whom will present with bronchiectasis.
Chronic Intestinal diseases
chronic Giardiasis,
intestinal malabsorption,
atrophic gastritis with pernicious anemia

26
Q

B cell immunodeficiency: X Linked (Brutons)

A

Absence of Be Cells, low levels of Ig,
Mutant tyrosine Kinase
pyogenic infection

27
Q

B Cell immunodeficiency X linked (Brutons)

A

Very low IgA levels,
Failure of heavy chain gene swithching
sinus and lung infection

28
Q

B cell immunodeficiency: CVID

A

very low IgG and or IgA , IgM levels

Sinus and lung infections

29
Q

Important T cell functions

A

control viral disease
control fungal disease
monitor/control development of dysplastic cellular
changes
Provide helper function to B cells for helpful humoral response

30
Q

T-Cell Deficiencies: Thymic aplasia (DiGeorge’s syndrome)

A

Defective development of the pharyngeal pouch system
These embryologic structures give rise to the thymus, thyroid, parathyroids, maxilla, mandible, aortic arch, cardiac outflow tract, andexternal/middleear

Most cases are caused by a heterozygous chromosomal deletion at 22q11.2
Absence of development of thymus, thyroid glands, parathyroid glands
Congenital Hypothyroidism (Cretinism)
Congenital hypoparathyroidism (low serum calcium)
Tetany

31
Q

T-Cell Deficiencies: Thymic aplasia (DiGeorge’s syndrome)

A

Absence of T cells
Severe viral, fungal, or protozoal infections

Occur in affected infants early in life as a result of a profound deficit of T cells.

Pneumonia caused by Pneumocystis jirovecii and thrush by Candida albicans are two common infection caused s.

32
Q

T-Cell Deficiencies: Thymic aplasia (DiGeorge’s syndrome)

A

Presentation at birth:
Cardiac abnormalites & hypocalcemia w/ possible tetany
Facial abnormlities
If survive: no or hypofunctioning thymus
Variable immune defect B cells normal, T cell reduced
Those with no thymus profound T cell dysfunction and reduced CD4+ T cells
Humoral immunity nrml & can produce AB

33
Q

T-Cell Deficiencies: Thymic aplasia (DiGeorge’s syndrome

A 
Facial abnormalities
Low-set ears with notched pinnae
Down-slanting eyes
Short philtrum
Hypertelorism (e.g. increased spacing between eyes)
Micrognathia (small jaws - especially lower jaw)
High arched palate and bifid uvula
Other:
Esophogeal atresia
Tracheoesophogeal fistula
34
Q

T-Cell Deficiencies: Thymic aplasia (DiGeorge’s syndrome)

A

Management:
Immediate tx of cardiac abn if indicated
Control metabolic abnormalities such as hypocalcaemia
Only irradiated blood should be given since fetal graft-versus-host disease can result if unirradiated blood is given
Once stable pts are more susceptible to chronic rhinitis, pneumonia, Candida infections and diarrhea- see lot of thrush and diaper rash
If recurrent infections or failure to thrive or severe T cell deficiency consider thymus transplant- fetal thymuses from stillbirths

35
Q

Severe combined immunodef-iciency (SCID)

A

Deficiency of both
B-cell and T-cell function
Either defective IL-2 receptor, defective recombinases, defective kinases, absence of MHC proteins, or other deficiencies
Bacterial, viral, fungal, and protozoal infections

36
Q

Wiskott-Aldrich

A

IgM and cellular immunity impaired X-linked disease and thus occurs only in males
X-linked disease and thus occurs only in males
Recurrent pyogenic infections, eczema, and bleeding

37
Q

Ataxia-telangiectasia

A

Lymphopenia and IgA deficiency
Autosomal recessive disease
Recurrent infections appear by 2 years of age

38
Q

Severe combined immunodeficiency (SCID)

A

SCID is a group of inherited diseases caused by mutations in different genes whose products are crucial for the development and function of both T and B cells

Combined immunodeficiencies are termed “severe” when they lead to early death from overwhelming infection, typically in the first year of life.

39
Q

Severe combined immunodeficiency (SCID) Pathophysiology

A

Absence of normal thymic tissue and other lymph tissues devoid of lymphocytes
Immunoglobulin levels are very low
Tonsils and lymph nodes are absent

40
Q

Severe combined immunodeficiency (SCID) Pathophysiology

A

Both B cells and T cells are defective
In some children, the B and T cells are completely absent
In others, the number of cells is normal but they do not function properly

41
Q

Severe combined immunodeficiency (SCID) Genetics

A 
Two main types:
X-linked
constitutes about 75% of cases
Autosomal
25% of cases
42
Q

Severe combined immunodeficiency (SCID) Genetics

A

Two main types:
X-linked
Some patients with X-linked SCID have a defect in the IL-2 receptor on T cells
Normal # of B cells with greatly reduced T cells
Low levels IgG and IgA, can make IgM; provides some protection but still fairly lethal

43
Q

Severe combined immunodeficiency (SCID) Genetics

A

Two main types:
Autosomal
Mutation in the gene encoding a tyrosine kinase called ZAP-70 that plays a role in signal transduction in T cells
Another autosomal form has mutations in the gene for a different kinase called Janus kinase 3.
Also may have mutation in the RAG-1 or RAG-2 genes that encode the recombinase enzymes that catalyze the recombination of the DNA required to generate the T-cell antigen receptor and the IgM monomer on the B cell that acts as the antigen receptor.

44
Q

Severe combined immunodeficiency (SCID) Clinical Issues

A

Presentation
Failure to thrive: pts usually die within first 1-2 years of life from overwhelming infection
Pneumocystis pneumonia is the most common presenting infection in these infants
Viral infections such as varicella-zoster virus, cytomegalovirus (CMV), and respiratory syncytial virus (RSV) are common and often fatal
Chronic diarrhea and diaper rash
Severe thrush/mucocutaneous candidiasis
Susceptible to complete range of microorganisms

45
Q

Severe combined immunodeficiency (SCID) Clinical Issues

A

Immunity is so profoundly depressed, these children must be protected from exposure to microorganisms
Isolation, being enclosed in a plastic “bubble” has been main intervention
Live, attenuated viral vaccines should not be given.

46
Q

Severe combined immunodeficiency (SCID) Treatment

A

Bone marrow or cord blood transplantation may restore immunity…the only know cure
Transplants done in first three months of life have high rate of success
The patient does not require immunosuppressive drugs.
IVIG
Enzyme replacement therapy (

47
Q

The VERY Rare

A

Wiskott-Aldrich
Ataxia-Telangiectasia

Just recognize the names as immunodeficiency

Immunodeficiences (1 decks)

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