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Immunodeficiences Flashcards

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1
Q

What is the predominant features of impaired immune fxn?

A

More severe and persist longer. Frequent recurrences. Not responsive to ordinarily effective Rx

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2
Q

What are some developmental signs of impaired immune fxn?

A

Decreased Height & Weight. Delayed Developmental skills

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3
Q

How many respiratory tract infections does a healthy child experience per year?

A

6-8 respiratory tract infections per year through first 10-12 years

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4
Q

How many episodes of otitis and gastroenteritis does a healthy child experience per year?

A

6 episodes of otitis and 2 episodes of gastroenteritis per year for first 2-3 years

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5
Q

What is x-linked hypogammaglobulinemia (XLA, Bruton’s)?

A

primary humoral immunodeficiency with severe hypogammaglobulinemia, antibody deficiency, and increased susceptibility to infection

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6
Q

What causes XLA?

A

a mutation in the gene encoding Bruton tyrosine kinase. usually found in boys, females are carriers

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7
Q

What are the labratory findings of XLA?

A

absence of B cells, low levels of all immunoglobulins, Normal T cell responses-cell mediated immunity intact

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8
Q

What are the clinical features of XLA?

A

Symptoms present in infants at about 6 mos of age when maternal antibody is no longer present. Recurrent pyogenic bacterial infections. May have the absence of tonsils and adenoids
May have failure to thrive/growth delay

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9
Q

What is the treatment for XLA?

A

Replacement of immunoglobulin is the cornerstone of treatment for XLA

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10
Q

What are the different ways you can replace the immunoglobulin in XLA?

A

intravenous immune globulin G (IGIV or IVIG)

subcutaneous immune globulin G (IGSC or SCIG)

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11
Q

How is the treatment dose for HLA determined?

A

combination of the patient’s weight, trough levels of IgG after tx has commenced, and the clinical response and condition of the patient

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12
Q

What are treatment goals for XLA?

A

reduce the number and intensity of infections

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13
Q

What is selective IgA immunoglobulin deficiency?

A

decreased serum IgA levels with normal serum levels of IgG and IgM and in the absence of any other immune deficiency disorder.

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14
Q

At what age can a diagnosis of IgA immunoglobulin deficiency by considered and why?

A

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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15
Q

What is the most common primary immunodeficiency in adults?

A

selective IgA immunoglobulin deficiency

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16
Q

What is the pathogenesis of selective IgA immunoglobulin deficiency?

A

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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17
Q

What recurrent disease incidences are seen with Ig A immunoglobulin deficicency?

A

SINOPULMONARY infections, infections of the GI tract, conjunctiva, and respiratory tract. Allergies,
Asthma, Autoimmune diseases

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18
Q

What is the treatment for IgA immunoglobulin deficiency?

A

No specific treatment. Prompt appropriate antibiotic therapy for recurrent infections

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19
Q

What should never be done for ppl with IgA immunoglobulin deficiency?

A

Should not be transfused and should not be treated with gamma globulin. Anaphylactic Hypersensitivity may occur

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20
Q

What is common variable immunodeficiency?

A

impaired B cell differentiation with defective immunoglobulin production

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21
Q

What laboratory findings are found with common variable immunodeficiency (CVID)?

A

reduced serum concentrations of IgG, in combination with low levels of IgAand/orIgM.
Poor or absent response to immunizations

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22
Q

What is the pathogenesis of CVID?

A

a collection of hypogammaglobulinemia syndromes resulting from many genetic defects.

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23
Q

Describe the B lymphocytes of a person with CVID?

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

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24
Q

What is the presentation of CVID?

A

Recurrent sinopulmonary infections, and evidence of immune dysregulation leading to autoimmunity, inflammatory disorders, and malignant disease.

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25
Why is the delayed recognition of CVID common?
the clinical manifestations affect multiple organ systems, pts are evaluated by several specialists by the time of diagnosis, and it takes an average of 5 to 7 years between onset and diagnosis
26
When do you consider CVID as a diagnosis?
Chronic pulmonary infections and chronic intestinal diseases (Giardiasis, intestinal malabsorption, and atrophic gastritis with pernicious anemia) and with symptoms of lymphoid malignancy
27
What are signs and symptoms of lymphoid malignancy?
fever, weight loss, anemia, thrombocytopenia, splenomegaly, generalized lymphadenopathy, and lymphocytosis
28
What is thymic aplasia (DiGeorge's syndrome)?
Defective development of the pharyngeal pouch system
29
What structures does the pharyngeal pouch give rise to?
the thymus, thyroid, parathyroids, maxilla, mandible, aortic arch, cardiac outflow tract, and external/middle ear
30
What is the genetic cause of thymic aplasia?
heterozygous chromosomal deletion at 22q11.2
31
What occurs as a result of thymic aplasia?
Absence of development of thymus, thyroid glands, parathyroid glands. Congenital Hypothyroidism (Cretinism). Congenital hypoparathyroidism (low serum calcium). Tetany
32
What happens as a result of the absence of T cell's in thymic aplasia?
Severe viral, fungal, or protozoal infections. Occur in affected infants early in life
33
What are common infections for someone with thymic aplasia?
Pneumonia caused by Pneumocystis jirovecii and thrush caused by Candida albicans
34
What is the presentation of thymic aplasia at birth?
Cardiac abnormalites & hypocalcemia w/ possible tetany. Facial abnormlities
35
What is the presentation of thymic aplasia if child survives?
no or hypofunctioning thymus. Those with no thymus have T cell dysfunction and reduced CD4 T cells. humoral immunity is normal
36
What are the facial abnormalitites observed with thymic aplasia?
Low-set ears with notched pinnae, Down-slanting eyes, Short philtrum, Hypertelorism, Micrognathia High arched palate and bifid uvula
37
What are other abnormalities observed with thymic aplasia besides the facial ones?
Esophogeal atresia and Tracheoesophogeal fistula
38
What is treatment for thymic aplasia?
Immediate tx of cardiac abn if indicated. Control metabolic abnormalities such as hypocalcaemia. consider thymus transplant
39
What infections/diseases do you see in babies with thymic aplasia?
more susceptible to chronic rhinitis, pneumonia, Candida infections and diarrhea- see lot of thrush and diaper rash
40
What is severe combined immunodeficiency (SCID)?
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
41
What is the pathophysiology of SCID?
Absence of normal thymic tissue and other lymph tissues devoid of lymphocytes. low immunoglobin levels. Tonsils and lymph nodes are absent. B and T cells are defective
42
What are the two main types of SCID?
X-linked constitutes about 75% of cases | Autosomal -25% of cases
43
What is the genetic pathophysiology of x-linked SCID?
defect in the IL-2 receptor on T cells results in normal # of B cells with reduced T cells.
44
What are the possible mutations seen with autosomal SCID?
Mutation in the gene encoding a tyrosine kinase called ZAP-70, has mutations in the gene for a kinase called Janus kinase 3, or have mutation in the RAG-1 or RAG-2 genes that encode the recombinase enzymes
45
What do recombinant enzymes do?
catalyze the recombination of the DNA required to generate the T-cell antigen receptor and the IgM monomer on the B cell
46
What is the presentation of SCID?
Failure to thrive: pts usually die within first 1-2 years of life from overwhelming infection. Chronic diarrhea and diaper rash. Severe thrush/mucocutaneous candidiasis
47
What is the most common presenting infection in infants with SCID?
Pneumocystis pneumonia
48
What infections are fatal to an infant with SCID?
varicella-zoster virus, cytomegalovirus (CMV), and respiratory syncytial virus (RSV)
49
What are the clinical issues of SCID?
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
50
What is the treatment of SCID?
Bone marrow or cord blood transplantation may restore immunity. Transplants done in first three months of life have high rate of success. IVIG Enzyme replacement therapy
51
What are two very rare immunodeficiency diseases?
Wiskott-Aldrich and Ataxia-Telangiectasia
52
What is hereditary angioedema?
autosomal disease, characterized by episodes of edema (swelling)
53
What do patients of hereditary angioedema experience as a result of swelling in the intestinal wall?
excruciating abdominal pain, nausea, and vomiting
54
What is the pathogenesis of hereditary angioedema?
deficiency of C’1 inhibitor. In the absence of inhibitor, C’1 continues to act on C’4 to generate C’4a. C’4a subsequently calls in additional vasoactive components such as C’3a and C’5a. This leads to capillary permeability and edema in many organs
55
What is the presentation of angioedema?
nonpruritic, swelling of ext, face, trunk, abd viscera and upper airway; last 24-72 hrs; occurs spontaneously or from trauma
56
What is seen with increased incidence in ppl with hereditary angioedema?
autoimmune dz: SLE, Sjogren’s Syndrome, Crohn’s disease, and Scleroderma
57
What is the acute treatment for hereditary angioedema?
immediate assessment of the airway. Human plasma-derived C1 inhibitor concentrate (C1INHRP). Recombinant human C1 inhibitor. Icatibant, a bradykinin B2 receptor antagonist. Ecallantide, a kallikrein inhibitor
58
Why does epi and antihistamines get poor response with hereditary angioedema?
because it's not a type I hypersensitivity
59
What is the chronic/prophylactic treatment for hereditary angioedema?
FFP, androgens such as danazol or methyltestosterone inc C1 inhibitor
60
Describe malnutrition as a secondary immunodeficiency
predisposes to greater incidence of infection & inc morbidity and mortality.
61
What is the pathogenesis of malnutrition related to lost immune fxn?
T cells decline & specific AB responses are impaired so there is dec phagocytic function. Primary & secondary lymphoid organs are depleted of cells resulting dec circ lymphocytes & IL-2 production
62
Describe the immunodeficiency associated with measles
T cell lymphopenia, diminished AB production, caused by direct infection of T cells by measles virus and by infection of dendritric cells; superinfection w/ pneumonia, GastE, OM, laryngiotraciobronchitis
63
Describe the immunodeficiency associated with parasitic infections
alteration in macrophage fn, induction of suppressor T cells, production of immunosuppressor factors by parasites; malaria is an example where infection w/ EBV leads to Burkett’s lymphoma
64
Describe the immunodeficiency associated with cancer
secondary to chemotherapy, radiation rx, and cancer itself
65
What are the immunologic abnormalities associated with cancer?
Chronic Lymphocytic Leukemia, Multiple myeloma, and Solid tumors
66
What are immunologic deficiencies associated with multiple myeloma?
CD4+ T cells dec, deficits in complement activation and neutrophil function
67
What are immunologic deficiences associated with solid tumors?
inhibit function of nl lymphocytes and increase suppressor lymph activity, dec peripheral T cell lymphocytes
68
How does renal disease result in immunodeficiences?
With loss of protein get hypogammaglobunemia of IgG, IgM, IgE- can’t fight bacterial infections Dialysis results in reduced T cell function and diminished AB production and neutrophil function
69
How do glucocorticoids affect immuno fxn?
Suppress phagocytosis. Decreases circulating T cells & inhibits IL-2- cytokine that turns on phagocyte fx and other t cells.
70
What is sarcoidosis?
characterized by accumulation of T lymphocytes, mononuclear phagocytes and pulmonary granulomas
71
What are immune abnormalities observed with sarcoidosis?
Peripheral T cell lymphopenia, dec CD4 T cells. Hypergammaglobulinemia - B cell hyperactivity. Decreased CD4/CD8 T cell ratio.
72
What are sarcoid granulomas made of?
primarily of CD4 T cells, periphery combo of CD4 and CD8 T cells

Immunology (8 decks)

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