immunodeficiency_diseases

1. IMMUNODEFICIENCY
DISEASES
Dr. Hayat AL AKOUM

2. IMMUNODEFICIENCY DISEASES
 Primary immunodeficiencies, rare disorders with
genetic origins are seen primarily in infants and
young children. To date, more than 95
immunodeficiencies of genetic origin have been
identified(Buckley, 2000).
 Symptoms usually develop early in life after
protection from maternal antibodies decreases.
Without treatment, infants and children with these
disorders seldom survive to adulthood.
 These disorders may involve one or more
components of the immune system. Symptoms of
immune deficiency diseases are related to the role
that the deficient component normally plays

3. IMMUNODEFICIENCY DISEASES
 Immunodeficiency disorders may be caused by a
defect or deficiency in phagocytic cells, B lymphocytes,
T lymphocytes, or the complement system. The specific
symptoms and their severity, age of onset, and
prognosis depend on the immune system components
affected and their degree of functional impairment.
 Regardless of the underlying cause, the cardinal
symptoms of immunodeficiency include chronic or
recurrent severe infections, infections caused by
unusual organisms or organisms that are normal body
flora, poor response to treatment of infections, and
chronic diarrhea.
 In addition, the patient is susceptible to a variety of
secondary disorders, including cancer.

4. IMMUNODEFICIENCY DISEASES
Immunodeficiencies may be classified as either
primary or secondary and by the components of the
immune system that are affected.
Primary immunodeficiency: abnormalities in
development of immune mechanisms
Secondary immunodeficiency: Consequences of
disease, drugs, nutritional inadequacies & other
processes interfere with proper functioning of mature
immune system

5. PRIMARY IMMUNODEFICIENCY DISORDERS
Immune component Disorder Major symptoms Treatment
Phagocytic cells Hyperimmunoglo
bulinemia E
(HIE) syndrome
Bacterial, fungal,
and viral infections;
deep-seated cold
abscesses
Antibiotic therapy and treatment
for viral and fungal infections
Granulocyte-macrophage
colonystimulating
factor (GM-CSF);
granulocyte colony-stimulating
factor (G-CSF)
B lymphocytes Sex-linked
agammaglobuline
mia
(Bruton’s
disease)
Common variable
immunodeficienc
y
(CVID)
Severe infections
soon after birth
Bacterial infections,
infection with
Giardia lamblia
Pernicious anemia
Chronic respiratory
infections
Passive pooled plasma or
gammaglobulin
IV immunoglobulin
Metronidazole (Flagyl)
Quinacrine HCl (Atabrine)
Vitamin B12
Antimicrobial therapy

6. PRIMARY IMMUNODEFICIENCY DISORDERS
Immune component Disorder Major symptoms Treatment
B lymphocytes Immunoglobulin A
(IgA)
Deficiency
IgC2 deficiency
Predisposition to recurrent
infections,
adverse reactions to blood
transfusions or
immunoglobulin,
autoimmune
diseases,hypothyroidism
Heightened incidence of
infectious
diseases
None
Pooled immunoglobulin
T lymphocytes Thymic hypoplasia
(DiGeorge
syndrome)
Recurrent infections;
hypoparathyroidism;
hypocalcemia, tetany,
convulsions;
congenital heart disease;
possible renal
abnormalities;
abnormal facies
Thymus graft

7. PRIMARY IMMUNODEFICIENCY DISORDERS
Immune component Disorder Major symptoms Treatment
T lymphocytes Chronic
mucocutaneous
candidiasis
Candida albicans
infections of
mucous membrane, skin,
and
nails; endocrine
abnormalities
(hypoparathyroidism,
Addison’s
disease)
Antifungal agents:
Topical: miconazole
Oral: clotrimazole,
ketoconazole
IV: amphotericin B
B and T
lymphocytes
Ataxia-
telangiectasia
Ataxia with progressive
neurologic
deterioration;
telangiectasia
(vascular lesions);
recurrent
infections; malignancies
Antimicrobial therapy;
management
of presenting
symptoms;
fetal thymus
transplant,
IV immunoglobulin

8. PRIMARY IMMUNODEFICIENCY DISORDERS
Immune component Disorder Major symptoms Treatment
B and T
lymphocytes
Nezelof’s
syndrome
Severe infections;
malignancies
Antimicrobial therapy;
IV immunoglobulin,
bone
marrow
transplantation;
thymus
transplantation;
thymus factors
Wiskott-Aldrich
syndrome
Thrombocytopenia,
resulting
in bleeding; infections;
malignancies
Antimicrobial therapy;
splenectomy
with continuous
antibiotic
prophylaxis;
IV immunoglobulin
and
bone marrow
transplantation

9. PRIMARY IMMUNODEFICIENCY DISORDERS
Immune component Disorder Major symptoms Treatment
B and T
lymphocytes
Severe combined
immunodeficiency
disease (SCID)
Overwhelming severe
fatal infections
soon after birth (also
includes opportunistic
infections)
Antimicrobial
therapy;
IV immunoglobulin
and bone
marrow
transplantation
Complement
system
Angioneurotic
edema
Paroxysmal
nocturnal
hemoglobinuria
(PNH)
Episodes of edema in
various parts
of the body, including
respiratory
tract and bowels
Lysis of erythrocytes due
to lack of
decay-accelerating factor
(DAF)
on erythrocytes
Pooled plasma,
androgen therapy
None

10. THE 10 WARNING SIGNS OF PRIMARY
IMMUNE DEFICIENCY
1. Eight or more new ear infections within 1 year.
2. Two or more serious sinus infections within 1 year.
3. Two or more months on antibiotics with little effect.
4. Two or more pneumonias within 1 year.
5. Failure of an infant to gain weight or grow
normally.
6. Recurrent, deep skin or organ abscesses.
7. Persistent thrush in mouth or elsewhere on skin,
after age 1.

11. THE 10 WARNING SIGNS OF PRIMARY
IMMUNE DEFICIENCY
8. Need for intravenous antibiotics to clear infections.
9. Two or more deep-seated infections such as
meningitis, osteomyelitis, cellulitis, or sepsis.
10. A family history of primary immune deficiency.

12. ALERT
 Though the primary immune deficiency diseases
can be serious, they are rarely fatal and can
generally be controlled. Primary immune deficiency
should not be confused with AIDS.
 Primary immune deficiency can be diagnosed
through blood tests and should be detected as soon
as possible to prevent avoidable permanent
damage. As with all disease, only direct
examination by a physician should be used to
determine the presence of primary immune
deficiency.

13. MANAGING AN IV IMMUNOGLOBULIN
INFUSION
 Weigh the patient before treatment.
 Obtain vital signs before, during, and after
treatment.
 Administer the prescribed pretreatment prophylactic
aspirin or IV antihistamine, such as
diphenhydramine (Benadryl).
 Be aware that corticosteroids may be used to
prevent possible severe reactions.
 Administer the IV infusion at a slow rate, not to
exceed 3 mL/minute.
 Assess the patient for adverse reactions, including
the early signs of anaphylactic shock; prepare to
slow the infusion rate if necessary.

14. MANAGING AN IV IMMUNOGLOBULIN
INFUSION
 Be aware that patients with low gammaglobulin levels
have more severe reactions than those with normal
levels (eg, patients who receive gammaglobulin for
thrombocytopenia or Kawasaki disease).
 Keep in mind that patients who have an immunoglobulin
A (IgA) deficiency have IgE antibodies to IgA, which
requires administration of plasma or immunoglobulin
replacement from IgA-deficient patients. Because all IV
immunoglobulin preparations contain some IgA, they
may cause an anaphylactic reaction in patients with IgE
anti-IgA antibodies.
 Remember that the risk for transmission of hepatitis,
HIV, or other known viruses is extremely low.

15. ADVERSE EFFECTS
 Complaints of flank pain, shaking chills, and
tightness in the chest, terminating with a slight rise
in body temperature
 Hypotension (possible with severe reactions)
 Anaphylactic reactions

16. SECONDARY IMMUNODEFICIENCY
DISORDERS
Category Examples
Endocrine Diabetes mellitus
GI Hepatic insufficiency, hepatitis, intestinal
lymphangiectasia, protein-losing
enteropathy
Hematologic Aplatic anemia, cancer, graft-vs-host
disease, sickle cell disease
Iatrogenic Certain drugs: chemotherapeutic drugs,
immunosuppressants, corticosteroids,
radiation therapy; splenectomy
Infectious Cytomegalovirus, Epstein-Barr virus, HIV,
measles virus, varicella-zoster virus

17. SECONDARY IMMUNODEFICIENCY
DISORDERS
Category Examples
Nutritional Alcoholism, undernutrition
Physiologic Physiologic immunodeficiency in infants
due to immaturity of immune system,
pregnancy
Renal Nephrotic syndrome, renal insufficiency,
uremia
Rheumatologic RA, SLE
Other Burns, chromosomal abnormalities (eg,
Down syndrome), congenital asplenia,
critical and chronic illness, histiocytosis,
sarcoidosis

18. INFECTION PREVENTION FOR THE PATIENT
WITH IMMUNODEFICIENCY
 Identify signs and symptoms of infection to report to
the health care provider, such as fever, chills; wet or
dry cough; breathing problems; white patches in the
mouth; swollen glands; nausea; vomiting; persistent
abdominal pain; persistent diarrhea; problems with
urination; red, swollen, or draining wounds; sores or
lesions on the body; and persistent vaginal
discharge with or without itching.
 Demonstrate correct handwashing procedure.

19. INFECTION PREVENTION FOR THE PATIENT
WITH IMMUNODEFICIENCY
 State rationale for thorough hand washing before
eating, after using the bathroom, and before and
after performing health care procedures.
 State rationale for use of cream and emollients to
prevent or manage dry, chaffed, or cracked skin.
 Demonstrate recommended personal hygiene in
bathing and foot care to prevent bacterial and
fungal diseases.
 State rationale for avoiding contact with people who
have known illness or who have recently been
vaccinated.

20. INFECTION PREVENTION FOR THE PATIENT
WITH IMMUNODEFICIENCY
 Verbalize understanding of ways to maintain a well-
balanced diet and adequate calories.
 State the reason for avoiding the eating of raw fruits and
vegetables, cooking all foods thoroughly, and
immediately refrigerating all leftover food.
 Identify the rationale for frequent cleaning of kitchen and
bathroom surfaces with disinfectant.
 Identify rationale and benefits of avoiding alcohol,
tobacco, and unprescribed medications.
 State rationale for taking prescribed medications as
directed.
 Verbalize ways to cope with stress successfully, plans
for regular exercise, and rationale for obtaining
adequate rest.