chapter 20

14.

Fifty percent of those affected with IgA deficiency overcome the deficiency by the age of ???

vaccine-associated polio

Five percent to 10% of patients with X-linked agammaglobulinemia (XLA) developed ___________ after vaccination with the live attenuated oral polio vaccine. For that reason, children with XLA and their siblings should be given inactivated polio vaccine rather than oral polio vaccine.

3-4

IVIG is given every ____ weeks, and the dosage and schedule are individualized

severe

In digeorge syndrome, if the patient has some limited thymus function, infections may be frequent but not necessarily?

circulating B cells as well as low levels of immunoglobulins.

In x-linked agammaglobulinemia (XLA), blood tests indicate a lack of ?

- autoimmune disorders - interstitial lung disease - hepatitis - non-Hodgkin's B-cell lymphoma - gastric cancer - hepatitis - intestinal malabsorption

Patients with CVID have a tendency to develop ?

infection in its early stages.

Periodic x-rays of the chest or sinuses in a child at risk for XLA are utilized to detect any signs of ??

subtypes CD4 helper and CD8 cytotoxic T cells.

T lymphocytes include??

mature and produce antibodies

The BTK protein transmits chemicals that alert B cells to ??

IgA deficiency.

The genetic basis of CVID is unknown, but it occurs in first-degree relatives of persons with ???

bacterial infections.

The inability to produce antibodies in X linked agammaglobulinemia in response to the invasion of an antigen leaves the patient prone to severe ???

weekly SC injections

gamma globulin can be given in XLA also by ?

BTK gene ; Bruton's tyrosine kinase

gene is present on the long arm of the X chromosome, and its defect results in deficiency of __________, which is essential for the development of the B lymphocyte

IgG and IgM

2/3 of people with IgA deficiency have no symptoms because normal ______ levels compensate for the deficiency

severe, life threatening bacterial infections -- like pneumonia, empyema, meningitis, sepsis, cellulitis, or septic arthritis or a chronic enterovirus

60% of patients with XLA develop?

present, absent, partial deficiency, or mosaic

BTK expression is reported as ?

adolescents/young adults, 15 to 35

CVID differs from XLA in that it appears in this age group

recurrent bacterial infections.. but the infections also tend to be less severe.

CVID is similar to XLA in that it manifests with? ,, but?

thymus gland and parathyroid dysfunction, facial deformities such as cleft palate, heart anomalies.

DiGeorge's syndrome results are dependent upon which pharyngeal pouch is affected but typically involve the ??

clinical setting.

Secondary immune dysfunction comprises the majority of deficiencies presented in the ??

100.5°F (38°C)

Signs and symptoms of infection in XLA and when to seek medical attention particularly any temperature of _______ or more Infection requires immediate treatment, and the family should not wait to report fever or symptoms of infection in an immunocompromised infant or child.

tetralogy of Fallot

Surgery may also be an option to correct the cardiac defects of DiGeorge's syndrome such as ???.

6 and 12

Symptoms of X linked Agammaglobulinemia do not appear until between _____ months of age because there is initial protection from the mother's antibodies.

amount of thymus affected

T cell deficiencies vary in thymus dysfunction depending on the ?

aggressive treatment; IVIG for ST passive immunity and prophylactic antibiotics.

T cell immune deficiency , like digeorge's syndrome, may require ______ of infections. This may involve providing ?

cell mediated immune response

T cells are responsible for this immune response, which protects against all infections. They are also

mature ;B cell activity

T cells help B cells ______, so the lack of T cells usually affects ?? also

males

X-linked agammaglobulinemia primarily affects _____ because it is unlikely that females will inherit two X chromosomes carrying the altered gene.

has a contagious illness

a pt with XLA should be protected from direct contact with anyone who ?

immunoglobulin G Subclass deficiency

affects one or more of the IgG subtypes but does not affect the overall levels of IgG.

candida albicans

almost always seen in patients with T cell deficiencies -- i.e. in Digeorge's syndrome

• Weakness or tiring easily • Failure to thrive • Failure to gain weight • Difficulty feeding

general clinical manifestations of digeorge's syndrome

IV immune globulin (IVIG)

given to patients with XLA to provide short term passive immunity; sterilized solution made from human plasma ; contains mostly IgG to protect against infection from various diseases

Digeorge's syndrome (congenital thymus hypoplasia)

autosomal dominant genetic condition that arises from the 22nd chromosome ; arises spontaneously, present at birth

irritability ,decrease in activity, and poor appetite

behavior and eating patterns in a child that are indicative of infection and illness to look for in XLA

western blot test

can be done to determine if the BTK protein is being expressed; determining if the effects of the gene are appropriately manifested in a person.

genetic testing

can confirm the diagnosis of mosaic BTK expression in XLA

frequent colds and ear infections

commonly seen in Digeorge's syndrome/ T cell deficiencies

development and function of the brain

complications of digeorge's syndrome: may cause problems with __________, resulting in learning, social, developmental, or behavioral problems

• Redness or drainage

conjunctival findings of XLA?

genetic testing

diagnosis of digeorge syndrome is primarily done by genetic testing

pharyngeal pouches

digeorge's syndrome arises from a disturbance of a normal embryological development of the _________ occurring between the sixth and 10th weeks of gestation

pulling at the ear

ear findings of XLA

within 3 to 6 months of birth

ideally, thymus tissue transplantation should be performed within this time, prior to the onset of multiple infections

deficiency or overactivity

immune disorders cn be due to either of these and may involve one or more components of the immune system

gestational diabetes

implicated in increasing risk of digeorge's syndrome

differentiate into antibody-secreting cells (plasma cells)

in CVID, there is a NORMAL number of B cells, but they fail to ?

age

in Digeorge syndrome, T-cell function may improve with _____ depending on the severity of involvement

10 warning signs of primary immunodeficiency ; life-threatening

in XLA,Teach parents of at risk children about the ______ and instruct them to speak to their provider Prompt detection of XLA is essential to manage infections and initiate proper treatment with IVIG to avoid???complications.

enteroviral encephalitis, with some neurological deterioration

in the mid 1980s when IVIG was introduced, enteroviral infections decreased markedly, however patients still may develop this

mosaic BTK expression

indicates a carrier of XLA

- yeast - fungal - protozoan - viral : chicken pox, measles, and rubella

infections that commonly occur in digeorge syndrome include ?

aggressive tx with specific antibiotics ; twice

initiated in XLA when the patient exhibits overt signs of infection Patients should have an antibiotic course at least _____ as long as that used in normal, healthy individuals.

- red, inflamed ears (infection), recurrent ear infections - red conjunctiva with drainage - skin rashes and lesions

inspect the eyes and ears, skin and nails, for this in XLA ?

B cell deficiencies

involve a lack of differentiation of B-cell precursors into mature B cells or from a lack of differentiation of B cells into plasma cells.

T cell deficiencies

lead to infections and other problems that are more severe than B-cell deficiencies.

Decreased or absent breath sounds or adventitious breath may be present, with excessive secretions common with respiratory infections

lung sounds of XLA

graft versus host disease

may occur in patients with T cell dysfunction; This is manifested when T cells in grafted tissue such as transfused blood attack and destroy the host's tissues.

anaphylaxis ; specially washed erythrocytes or IgA-deficient donors

may occur in persons with IgA deficiency when IgA is administered, because of antibodies against IgA ; thus making treatment not utilized routinely if blood is necessary, what is used for these pt?

autosomal dominant

means that the presence of only one altered gene is required for the disease to be present

inherited diseases

most primary immune dysfunctions are ???

- administer IV gamma globulin - administer prophylactic antibiotics - anticipate prompt treatment with abx when infection is present

nursing actions for the patient with XLA

primary immune dysfunction

occurs in persons born with an immune system that is deficient or is limited in its ability to function. In this case, there is an intrinsic or inborn, congenital, or genetic cause.

secondary immune function (acquired immune deficiency)

occurs when there is damage caused by an extrinsic or external environmental factor or agent

humoral/antibody response

one classification of primary immune dysfunction involves B cell deficiencies. B cells are involved in this immune response

thymus tissue transplantation

option for treating Digeorge syndrome if the thymus is absent

-Cardiac abnormality (especially tetralogy of Fallot) - Abnormal faces - Thymic aplasia - Cleft palate - Hypocalcemia-Hypoparathyroidism (Because the disorder is caused by the deletion of a small piece of chromosome 22, the health-care community sometimes refers to DiGeorge's syndrome as CATCH-22.)

other disorders of DiGeorge syndrome form the acronym CATCH, which includes??

• Twitching or spasms around the mouth, hands, arms, or throat • Poor muscle tone • Delayed development of infant milestones • Delayed speech development • Learning delays or difficulties, emotional and behavior problems • Cleft palate or other problems with the palate • Certain facial features such as low-set ears, wide-set eyes, or a narrow groove in the upper lip

other manifestations of digeorge's syndrome

attention deficit-hyperactivity disorder, autism, or autism-related disorders - depression - anxiety - schizophrenia

others with digeorge syndrome may develop disorders such as ?... Later in life, the patient is at increased risk of mental health problems including?

low dose prophylactic antibiotics

patients with XLA take this regularly even when feeling well, if the episodes of infection are frequent

- hepatitis - polio - enterovirus viruses

patients with x linked agammaglobulinemia cope well with ST viral infections, but are very susceptible to chronic viral infections, such as?

T lymphocytes B lymphocytes NK cells Phagocytic cells Complement system

primary immunodeficiencies result from these cells.

• Frequent infections • Shortness of breath • Bluish skin due to low oxygen-rich blood

respiratory clinical manifestations of digeorge's syndrome

• Increased respiratory rate • Absent or decreased lung sounds

respiratory findings of XLA?

X linked (recessive) agammaglobulinemia

result of a mutation of the BTK gene. The BTK gene is present on the long arm of the X chromosome, and its defect results in deficiency of Bruton's tyrosine kinase, which is essential for the development of the B lymphocyte.

some other disease process or exposure to medications or chemicals

secondary immune dysfunction arises secondary to ?

HIV disease, irradiation, chemotherapy, malnutrition, or burns

secondary immune dysfunction include immune deficiency caused by ?

• Rash • Lesions

skin findings of XLA?

fluorescence in situ hybridization (finds specifics on DNA)

submicroscopic deletion of chromosome 22 in Digeorge's syndrome is detected by ?

- foods (particularly raw foods) - water, - domestic animals, or - unsanitary conditions. Additionally, sites that accumulate stagnant water—such as sinks, toilets, waste pipes, cleaning tools, facecloths—readily support microbial growth and can become secondary reservoirs of infection.

teach parents of children with XLA to prevent infection by minimizing any source of infection in the environment, related to ?

B-lymphocyte surface marker assays

test in X linked agammaglobulinemia to identify specific cells involved in the immune response; general which can aid in the diagnosis of primary immunodeficiency disorders

pharyngeal pouches

the embryonic precursors to specific organ systems in the head, neck, and chest.

selective IgA

the most common type of immunoglobulin deficiency. It affects one in 400 to one in 1,000 persons; As another example of the second type of B-cell deficiency, the cause of this deficiency is likely due to a block in the pathway that provides for the final differentiation of mature B cells to IgA-secreting plasma cells.

sixth pouch

the pulmonary artery arises from this pharyngeal pouch

common variable immune deficiency (CVID)

the second category of B-cell deficiency. It is due to a lack of differentiation of B cells into plasma cells. This results in low levels of circulating antibodies.

thymus, parathyroid gland and aorta.

the third and fourth pharyngeal pouches develop into the ??3

infants having cardiac surgery

the tissue for a thymus transplant is taken from these patients

abnormal percentages of B lymphocytes

they diagnose primary immune disorders by identifying?

rheumatoid arthritis and Grave's disease

those with a poor immune system due to a small thymus in digeorge syndrome may have increased risk of these AI disorders

bone marrow transplantation

treatment of digeorge's syndrome may also involve this in very severe cases

calcium supplements; hypocalcemia from hypoparthyroidism, if the parathyroid gland is affected

used in tx of digeorge's syndrome to prevent tetany and seizures which could be a result of ?

- increased temperature (may indicate the presence of infection) - respiratory rate may increase (with respiratory infections in an effort to increase oxygenation)

vital signs of XLA ??

• Eight or more new infections within 1 year • Two or more serious sinus infections within 1 year • Two or more months on antibiotics with little or no effect • Two or more pneumonias within 1 year • Failure of an infant to gain weight or grow normally • Recurrent deep skin or organ abscesses • Persistent thrush in the mouth or elsewhere on skin after age 1 • Need for IV antibiotics to clear infections • Two or more deep-seated infections • A family history of immune deficiency

what are some warning signs of primary immune deficiency?

- fever, - changes in behavior (inconsolable crying) - eating patterns - irritability - decreased activity

what are the general assessment findings of XLA?

- recurrent infections - cardiac abnormality - abnormal faces - cleft palate - hypocalcemia - feeding problems

what assessment data might be seen in Digeorge syndrome?

- ear, lung, skin, conjunctiva, and CNS infections - recurrent bacterial infections of the respiratory tract in childhood (1st indicator*) - chronic respiratory infections (sinus infections and pulmonary disease) - infections in blood stream and internal organs - recurrent pneumonia, meningitis, and septicemia (streptococcus pneumonia and H. influenzae) - autoimmune disease - leukemia/lymphoma

what clinical manifestations may be seen with X linked agammaglobulinemia

T cell production and differentiation T cell deficiencies.

what is the thymus gland responsible for? so, when Thymus dysfunction occurs, this results in ?

q 3-4 weeks

what is the usual schedule for IVIG ?

childhood

when are primary immune deficiencies usually diagnosed?

sixth

with X linked agammaglobulinemia, Prevalence is three to six per million males in all racial and ethnic groups. Many children die before their _____ birthday because of infection if not identified and treated.