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Chickenpox f) All stages are present simultaneously

before all are covered with scabs,
(Varicella) known as the “celestial map.”
Definition g) All lesions appear in different stages at
 Chicken pox is an acute and highly contagious one time or it will pass through the
disease of viral etiology that is characterized by following stages: macule, papule,
vesicular eruptions on the skin and mucous vesicles, pustule, crust.
membrane with mild constitutional symptoms.
Macule
INFECTIOUS AGENT  is a lesion that is
 Herpes virus varicellae – DNA-containing virus not elevated above
1. Human beings are the only source of the skin surface
infection.
2. This is closely related or identical to herpes Papule
zoster virus.  is a lesion that is
elevated above the
skin surface with a
diameter of about
Incubation period 3mm
 The incubation period is 10 to 21 days or may be
prolonged after passive immunization against Vesicles
chickenpox.
 is a pop-like
Mode of transmission eruption filled with
fluid. The thin-
1.) Chicken pox is transmitted through direct walled vesicle
contact with patients who shed the virus easily bursts and
from the vesicles. dries up in three to
2.) It can also be transmitted through indirect five days.
contact, through linens or fomites.
3.) It can also be airborne, and spread by Pustule
droplet infection.
 is a vesicle that is
Period of Communicability infected or filled
with pus. If the
 The patient is capable of transmitting the disease lesion becomes
about a day before the eruption of the first lesion infected the scar
up to about five days after the appearance of the may be big and
last crop. wide.

Clinical Manifestations: Crust

1.) pre-eruptive manifestations are mild fever  is a scab or eschar.
and malaise. This is a secondary
2.) eruptive stage: lesion caused by
a) rash starts from the trunk, then spread the secretion of
to other parts of the body. vesicles drying on
b) initial lesions are distinctively red the skin. The scars
papules where contents become milky are superficial,
and pus-like within four days. depigmented and
c) In adult and bigger children, the take time to fade
lesions are more widespread and more out.
severe. Pathophysiology
d) There is a rapid progression so that  Chickenpox is usually acquired by the
transition is completed in six to eight inhalation of airborne respiratory droplets from
hours. an infected host.
e) Vesicular lesions are very pruritic.

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 After initial inhalation of contaminated
respiratory droplets, the virus infects the
conjunctivae or the mucosae of the upper
respiratory tract.
 Viral proliferation occurs in regional lymph
nodes of the upper respiratory tract 2-4 days
after initial infection; this is followed by primary
viremia on post infection days 4-6.
 A second round of viral replication occurs in the
body's internal organs, most notably the liver and
the spleen, followed by a secondary viremia 14-
16 days post infection. This secondary viremia is
characterized by diffuse viral invasion of
capillary endothelial cells and the epidermis.
 Infection of cells of the malpighian layer of the
skin produces both intercellular edema and
intracellular edema, resulting in the
characteristic vesicle.
 Exposure to VZV in a healthy child initiates the
production of host immunoglobulin G (IgG),
immunoglobulin M (IgM), and immunoglobulin
A (IgA) antibodies; IgG antibodies persist for
life and confer immunity.
 Reactivation results in Shingles
 Serious complications can lead to death
Diagnostic Test
Determination of V-Z virus through:
Complement Fixation Test
 The complement fixation test is a blood test
in which a sample of serum is exposed to a
particular antigen and complement in order
to determine whether or not antibodies to
that particular antigen are present.
Electron Microscopic examination of vesicular fluid
Complications
 Secondary infection of the lesions –
 furuncles, cellulites, skin abscess,
 erysipelas
 Meningoencephalitis
 Pneumonia
 Sepsis
treatment modalities
 Oral acyclovir 800mg 3x a day for five days
 Oral antihistamine for pruritus
 Calamine lotion will ease itchiness
 Salicylates must not be given
 Antipyretic for fever
Nursing Management
 Respiratory isolation is a must until all
vesicles have crusted.
 Prevent secondary infection of the skin
lesion through hygienic care of the patient.
 Attention should be given to
nasopharyngeal secretions and discharges.
 Cut finger nails short and wash hands more
often to minimize bacterial infections that
may be introduced by scratching.
 A child must wear mittens.
 Provide activities to keep child occupied to
lessen pruritus.
 Observe oral and nasal care as rash may
appear at the buccal cavity.
Preventive Measures
 Active immunization with live attenuated
varicella vaccine is necessary.
 Avoid exposure as much as possible to
infected persons.
 Patient must be isolated to avoid
transmission of organisms to other members
of the family.
Diphtheria
 is an acute bacterial disease that can infect
the body in two areas; the throat
(respiratory diphtheria) and the skin
(cutaneous diphtheria)
Etiologic Agent
 Corynebacterium diphtheriae (Klebs
Leoffler bacillus)
Incubation Period
 after being exposed to the bacterium, it
usually takes two to five days for the
symptoms to develop.
Period of communicability
 The period of communicability varies. It is
more than two to four weeks in untreated
patients or one to two days in treated
patients.
Source of infection
 Infection can come from discharges of the
nose, pharynx, eyes, or lesions on other
parts of the body of infected persons.
Mode of transmission
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 Diphtheria is transmitted through contact  Stridor

with a patient or a carrier, or with articles  Nasal drainage
soiled with discharges of infected persons.  Swelling of the palate
Predisposing factors:  Low-grade fever
 An operation in an area of the nose and Symptoms of skin or cutaneous diphtheria are usually
throat milder and may include yellow spots or sores (similar
 Economic status to impetigo) on the skin.
 Lack of proper nutrition
Pathophysiology
 Overcrowding
Types  The toxin is absorbed into the mucous
membrane and causes destruction of the
Nasal
epithelium and superficial inflammatory
 with foul-smelling serosanguinous response takes place.
secretions from the nose.  Necrotic epithelium becomes embedded in
Tonsilar exuding fibrin so that grayish pseudo
 which has low fatality rate. The lesions are membrane is formed by leukocytes, fibrin
confined to the tonsils only but tend to and necrotic tissues leave a raw bleeding
spread over the pillars, into the soft palate when detached.
and uvula.  The larger the membrane, the more toxins
Nasopharyngeal are present in the blood stream and in the
 or the more severe type: tissues.
a) Cervical lymph nodes are swollen  The microorganisms are commonly seen
b) Neck tissues are edematous that result over the tonsils, pharynx, or larynx, so that
in the appearance of “bull’s neck” any attempt to remove the pseudo
c) It has marked degree of toxemia membrane, exposes and tears the capillaries
d) Breath usually is fetid. and results in bleeding.
Laryngeal  The bacilli within the membrane continue
to actively produce toxins that result in
 most commonly found in children ages 2 to
distant damage, particularly
5 years old.
parenchymatous degeneration, fatty
 Considered as most severe and more fatal
infiltration and necrosis in the muscles of
type due to anatomical reason
the heart, liver, kidney and adrenals,
 Respiration is increased because less air is sometimes accompanied by gross
brought to the lungs due to the narrowing of hemorrhage.
the air passages.
 The toxin also produces nerve damage
 There is moderate hoarseness, the voice is resulting in paralysis of the soft palate, eye
diminished until it is finally absent. muscle, or extremities.
Wound or cutaneous diphtheria  Complications caused by toxins can lead to
 affects the mucous membrane and any death
break on the skin.
Complications
Clinical Manifestations  Myocarditis
 Fatigue  Polyneuritis
 Malaise  Asphyxia
 Slight sore throat  Cervical Adenitis
 Elevation of temperature not exceeding 38  Otitis Media
degrees Celsius  Bronchopneumonia
 Entire neck becomes swollen in severe
cases (bull’s neck) Diagnostic Tests
Other common symptoms: (respiratory)  Swab from nose and throat or other
 Breathing heavily suspected lesions
 Husky voice  Virulence test
 Increased heart rate
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 Schick Test (A test to determine immunity
to diphtheria by injection into the skin of
dilute diphtheria toxin. Inflammation of the
injected area indicates a lack of immunity)
 Molony test (a test to detect a high degree
of sensitivity to diphtheria toxoid; more
than a minimal local reaction to diluted
(1:20) toxoid given intradermally indicates
that prophylactic toxoid should be
inoculated in fractional doses at suitable
intervals)
 Loefler slant (is a culture medium for the
detection and propagation Cory bacteria)
Treatment modalities
Specific treatment of diphtheria is determined by the
physician based on:
1.) Overall health and medical history
2.) Extent of the condition
3.) Tolerance for specific medications,
procedures and therapies.
Nursing Management
 Absolute bed rest for at least 2 weeks.
 Soft food is recommended
 Encourage to drink juices rich in vit C
 Ice collar must be applied to the neck
 Nose and throat must be taken care of.
Prevention
 Cases of diphtheria must be reported
 Patients should be isolated minimum of 14
days from the onset
 Patient should avoid contact with children
and should avoid handling food
 Booster dose should be given to children
below 5
 DPT immunization is mandatory
Pertussis
whooping cough
 is an infectious disease characterized by
repeated attacks of spasmodic coughing
which consists of explosive expirations,
typically ending in a long-drawn forced
inspiration which produces a crowing
sound, the “whoop”, and usually followed
by vomiting.
Causative agent
more serious when it occurs to infants. The
organism is non-motile, gram negative
bacillus that is easily destroyed by light,
heat, and drying.
Incubation Period
 7-14 days
Period of communicability
 The period of communicability starts from
7 days after exposure to three weeks after
typical paroxysms.
Mode of transmission:
1.) Direct contact or droplet
2.) Spread indirectly through soiled linens and
other articles contaminated by respiratory
secretions.
Clinical Manifestations
 Catarrhal stage
 Paroxysmal stage
 Convalescent stage
Pathophysiology
 After the incubation period, larger number
of B. pertussis is confined to the
tracheobronchial mucosa entangled in the
cilia where it produces progressively
tenacious mucus.
 This mucus is irritating to the mucosa and
initiates coughing. Cough is spasmodic
because the tenacious material is not readily
expelled.
 Whooping cough follows a classic six-day
course of three stages, each of which lasts
about two weeks.
 It is believed that coughing is initiated by
direct toxic effect of the organisms on the
central nervous system that can lead to
serious complications and death.
Complications
 Interstitial pneumonia occurs
 Atelectasis
 Convulsions
 Umbilical hernia
 Otitis media
 Bronchopneumonia
 Severe malnutrition

 Pertussis is a bacterial infection caused by Diagnostic Procedures

Bordotella pertussis, an infection that is  Nasopharyngeal swabs

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 2Sputum culture
 CBC (leukocytosis)
What is AIDS?
Modalities of treatment
 Supportive therapy
 F&E replacement
 Adequate nutrition
 Oxygen therapy
 Antibiotics
 Hyperimmune convalescent serum or
gamma-globulin are found effective

Nursing Management
 Isolation
 Should not be left alone
 Sunshine and fresh air are important
 Provide warm baths BLOOD
 I&O should be monitored

Prevention PLATELETS RBC WBC PLASMA

 Any case should be reported
 Isolate patient for 4 to 6 weeks
LYMPHOCYTES PHAGOCYTES
 Public education for active immunization
and early diagnosis, together with reporting
of all cases should be encouraged.
T-CELLS B-CELLS
 Previously immunized children should be
given reinforcing injection/immunization
HIV/AIDS CD4 CD8

human immunodeficiency viruses/ Acquired

Immunodeficiency Syndrome
Introduction
Dr. Gottlieb in the Centers for Disease Control and
Prevention (CDC) Morbidity and Mortality Weekly
Report (MMWR) of 5th June 1981, described a
syndrome of unusual illness that was termed as "gay-
related immune deficiency" (GRID), as most of initial
cases were reported among gay people.
Epidemiology
HIV IN WORLD:
 HIV/AIDS has killed more than 20 million
people globally so far, and nearly 34
million are estimated to be living with HIV
currently. HIV IN RP

Later, similar cases were reported among drug

addicts, people who received blood transfusions and
other persons, indicating that the syndrome was not
just limited to gay men.

In 1982, the CDC formally coined the term “Acquired

Immunodeficiency Syndrome” (AIDS) for these
group of illnesses.
Risk factor
Declaration  Having unprotected anal or vaginal sex;
The World Health Organization (WHO) declared 1st  Having another sexually transmitted
December as World AIDS Day in 1988 and the red infections (STI) such as syphilis, herpes,
ribbon was recognized as the international symbol of chlamydia, gonorrhea and bacterial
AIDS awareness in 1991 vaginosis.

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 Sharing contaminated needles, syringes and

other injecting equipment and drug
solutions when injecting drugs;
 Receiving unsafe injections, blood
transfusions and tissue transplantation, and
medical procedures that involve unsterile
cutting or piercing; and
 Experiencing accidental needle stick
injuries, including among health workers
 Having sexual relations with infected
individuals (both male & female) Infants
born to mothers with HIV infection and/or
who are breastfed by HIV-infected mothers
 People who received organ transplants
Virus HIV
 Retrovirus in nature
 Types – HIV-1 & HIV-2
 STRUCTURE
 Size: 100 nanometer in diameter
 Have lipid envelope, in which are
embedded the trimeric transmembrane
glycoprotein gp41 to which the surface
glycoprotein gp120 is attached

 Glycoprotein Gp41 & Gp 120 viral proteins

are responsible for attachment to the host
cell and are encoded by the env gene of the
viral RNA genome.
 Beneath the envelope, is the matrix protein
p17, the core proteins p24 and p6 and the
nucleocapsid protein p7 (bound to the
RNA), all encoded by the viral gag gene.
 Within the viral core, lies 2 copies of the
~10 kilobase (kb) positive-sense, viral RNA
genome (i.e. it has a diploid RNA genome),
together with the protease, integrase and
reverse transcriptase enzymes. These three
enzymes are encoded by the viral pol gene.

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cell counts. The classification system

groups clinical conditions into one of three
categories denoted as A, B, or C

PRIMARY INFECTION
 Also known as acute HIV infection or acute
HIV syndrome.
 The period from infection with HIV to the
development of antibodies to HIV is known
as primary infection.
 During this period, there is intense viral
replication and widespread dissemination of
HIV throughout the body.
 During the primary infection period, the
window period occurs because a person is
infected with HIV but tests negative on the
HIV antibody blood test.
 About 3 weeks into this acute phase,
individuals may display symptoms
reminiscent of mononucleosis, such as
fever, enlarged lymph nodes, rash, muscle
aches, and headaches.
 These symptoms resolve within another 1 to
3 weeks as the immune system begins to
gain some control over the virus.

HIV ASYMPTOMATIC (CDC CATEGORY A)

 More than 500 CD4 +T Lymphocytes/mm3
of blood.
 By about 6 months, the rate of viral
replication reaches a lower but relatively
steady state that is reflected in the
maintenance of viral levels at a kind of “set
point.”
 Apparent good health continues because
CD4 T-cell levels remain high enough to
preserve defensive responses to other
pathogens.

Clinical Symptoms CAT A

 Moderate unexplained weight loss (10% of
the presumed or measured body weight)
 Recurrent respiratory tract infections
(Sinusitis, Tonsillitis, Otitis Media,
Pharyngitis)
 Herpes Zoster
 Angular Cheilitis

HIV SYMPTOMATIC (CDC CATEGORY B)

STAGES OF HIV  200 to 499 CD4+ T Lymphocytes/mm3
 Over time, the number of CD4 T cells
 On the basis of clinical conditions gradually falls.
associated with HIV infection and CD4+ T-

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 Category B consists of symptomatic
conditions in HIVinfected patients that are
not included in the conditions listed in
category C.
 If an individual was once treated for a
category B condition and has not developed
a category C disease but is now symptom
free, that person’s illness would be
considered category B
Clinical presentation
 Unexplained chronic diarrhea for more than
1 month
 Unexplained persistent fever (intermittent
or constant for longer than 1 month)
 Persistent Oral Candidiasis
 Pulmonary Tuberculosis
 Severe bacterial infections (such as
Pneumonia, Empyema, Pyomyositis, bone
or joint infection, Meningitis, bacteremia)
Oral Candidiasis (Oral Thrush)
AIDS (CDC CATEGORY C)
 Less than 200 CD4 + T Lymphocyte/mm3
 When CD4 T-cell levels drop below 200
cells/mm3 of blood, patients are said to
have AIDS. As levels fall below 100, the
immune system is significantly impaired.
 Once a patient has had a category C
condition, he or she remains in category C.
Clinical Presentation
 HIV wasting syndrome
 Pneumocystis (jiroveci) Pneumonia
 Recurrent severe bacterial Pneumonia
 Chronic Herpes Simplex infection
(orolabial, genital, or anorectal of more than
1-month duration or visceral at any site)
 Esophageal Candidiasis (or Candidiasis of
the trachea, bronchi, or lungs)
 Extrapulmonary Tuberculosis
 Kaposi sarcoma
 Cytomegalovirus infection (retinitis or
infection of other organs)
 Central nervous system Toxoplasmosis
 HIV encephalopathy
Diagnostic evaluation
 HIV Antibody Test
 Viral Load Test
HIV Antibody test
 In 1985, the FDA licensed an HIV-1
antibody assay, which is used to screen all
blood and plasma donations. When an
individual is infected with HIV, the immune
system responds by producing antibodies
against the virus, usually within 3 to 12
weeks after infection. This delay in the
production of antibody helps to explain why
a person may be infected but not test
antibody positive during primary infection.
 Blood samples are tested with two different
blood tests to determine the presence of
antibodies to HIV.
 ELISA (enzyme-linked immunosorbent
assay) test, identifies antibodies directed
specifically against HIV.
 The Western blot assay is used to confirm
seropositivity when the ELISA is positive.
Ora quick HIV test
 It is first kit for HIV home testing which
test for antibodies.
VIRAL LOAD TEST
 Target amplification methods quantify HIV
RNA or DNA levels in the plasma and have
replaced p24 antigen capture assays.
 Target amplification methods include
reverse transcriptase polymerase chain
reaction (RT-PCR) or nucleic acid
sequence-based amplification (NASBA).
 Reverse transcription polymerase chain
reaction (RT-PCR) is also used to detect
HIV in high- risk seronegative people
before the development of antibodies, to
confirm a positive ELISA, and to screen
neonates.
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 HIV culture or quantitative plasma culture  TENOFOVIR (TDF 300 mg) +

and plasma viremia are additional tests that LAMIVUDINE (3TC 300 mg) +
measure viral burden, but they are used EFAVIRENZ (EFV 600 mg) (TLE) as
infrequently. Fixed Dose Combination (FDC) in a single
 Viral load is a better predictor of the risk of pill once a day.
HIV disease progression than the CD4
count. The lower the viral load, the longer
the time to AIDS diagnosis and the longer
the survival time.
Treatment
Treatment decisions for an individual patient are
based on three factors:

1.) HIV RNA (viral load);

2.) CD4 T-cell count; and
3.) the clinical condition of the patient
(Panel,2000).

GOALS OF ART ADVERSE EFFECT

Clinical Goals Increased survival and  Jaundice
improvement in quality of life  Vomiting
Virological goals Greatest possible sustained  Diarrhea
reduction in viral load  Acute hepatitis
Immunological Immune reconstitution that is  Acute pancreatitis
goals both quantitative and
 Hypersensitivity
qualitative
Therapeutic goals Rational sequencing of drugs COUNSEL FOR
in a manner that achieves
clinical, virological and  Disclosure
immunological goals while  Adherence issues
maintaining future treatment
 Psychosocial support needs
options, limiting drug toxicity
and facilitating adherence  Physical and sexual issues
Preventive goals Reduction of HIC
transmission by suppression
of viral load Prevention
Principles of ART
 Block binding of HIV to the target cell
(Fusion Inhibitors and CCR 5 co-receptor
blockers)
 Block the viral RNA cleavage and one that
inhibits reverse transcriptase (Reverse
Transcriptase Inhibitors)
 Block the enzyme integrase, which helps in
the proviral DNA being incorporated into
the host cell chromosome (Integrase
Inhibitors)
 Block the RNA to prevent viral protein
PALLIATIVE CARE
production
 Block enzyme protease (Protease  Pain management
Inhibitors)  Symptomatic management
 Inhibit the budding of virus from host cells  Nutritional support
 Psycho-social support
FIRST LINE ART DRUGS  Spiritual support

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 End of life care
 Bereavement counselling
Government Body
Philippine National AIDS Council (PNAC).
 The PNAC, established under Section 43 of
Republic Act No. 8504, otherwise known as
the “Philippine AIDS Prevention and
Control Act of 1998", repealed by RA
11166.
Transmission to health care provider
 STANDARD PRECAUTIONS
 POST-EXPOSURE PROPHYLAXIS (PEP)
FOR HEALTH CARE PROVIDERS
The CDC (1998) recommends that all health care
providers who have sustained a significant exposure
to HIV be counseled and offered anti-HIV
postexposure prophylaxis, if appropriate.
Post-exposure Prophylaxis
 It includes taking antiretroviral medicines
as soon as possible, but no more than 72
hours after possible HIV exposure, two to
three drugs are usually prescribed which
must be taken for 28 days.
Nursing management
Nursing assessment
 Opportunistic infections
 Impaired breathing or respiratory failure
 Wasting syndrome and fluid and electrolyte
imbalance
 Adverse reaction to medications
Nursing diagnoses
 Impaired skin integrity related to cutaneous
manifestations of HIV infection,
excoriation, and diarrhea
 Diarrhea related to enteric pathogens or
HIV infection
 Risk for infection related to
immunodeficiency
 Activity intolerance related to weakness,
fatigue, malnutrition, impaired fluid and
electrolyte balance, and hypoxia associated
with pulmonary infections
 Disturbed thought processes related to
shortened attention span, impaired memory,
confusion, and disorientation associated
with HIV encephalopathy
 Social isolation related to stigma of the
disease, withdrawal of support systems,
isolation procedures, and fear of infecting
others
 Anticipatory grieving related to changes in
lifestyle and roles and unfavorable
prognosis
 Deficient knowledge related to HIV
infection, means of preventing HV
transmission, and self-care
Conclusion
 AIDS has had a high mortality rate, but
advances in antiretroviral and multidrug
therapy have demonstrated promise in
slowing or controlling disease progression.
 Interdisciplinary meetings allow
participants to support one another and
provide comprehensive patient care. Staff
support groups give nurses an opportunity
to solve problems and explore values and
feelings about caring for AIDS patients and
their families; they also provide a forum for
grieving
Primary Immunodeficiencies Diseases
DEFINITION
 It is the absence or failure of normal
function of one or more elements of the
immune system
 Results in immunodeficiency disease
Immunodeficiency Diseases
 Primary: Usually congenital, resulting from
genetic defects in some components of the
immune system.
 Secondary (Acquired): as a result, or of
other diseases conditions such as:
 HIV infection
 malnutrition
 immunosuppression
PRIMARY IMMUNODEFICIENCIES
 Primary immunodeficiencies are inherited
defects of the immune system.
 They are classified according to the
International Union of Immunological
Societies.
 These rare genetic diseases prevent the
body from developing normal immune
responses resulting in a complex group of
disorders with a wide array of clinical
presentations.
The immune system functional compartments
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 The B-lymphocyte/ Antibody system

 The T-lymphocyte/ cellular system
 The Phagocytic system
 The Complement system

Clinical Manifestations of the Primary

Immunodeficiency Diseases
 INFECTIOUS DISEASES
 AUTOIMMUNE DISEASES
 GASTROINTESTINAL DISEASE
 HEMATOLYMPHOID DISEASES

INFECTIOUS DISEASES
 An increased susceptibility to infection is
the hallmark of the primary
immunodeficiency diseases (PID)
 In most patients, this is manifested by CELLULAR DEFICIENCIES
recurrent infections 1. SCID and Combined immune deficiency
2. Wiskott-Aldrich syndrome
3. Hyper-IgM syndrome
4. Ataxia-telangiectasia
5. Di-George syndrome
6. Other primary cellular immunodeficiencies

1. SEVERE COMBINED
IMMUNODEFICIENCY (SCID)
 Fatal PID
 Combined absence of T and B lymphocytes
 13 different genetic defects that can cause
SCID

MOST COMMON TYPES

HEMATOLYMPHOID DISEASES 1.) XSCID (X linked)

 Anemia, thrombocytopenia, or leukopenia 2.) Adenosine deaminase (ADA)
are seen frequently in patients with PID
 Patients have increased chances of
malignancy especially of lymphoid organs Life-threatening infections: most dangerous
organisms are
1. Pneumocystis jiroveci
2. Chicken pox
3. CMV
4. Herpes simplex
 Live vaccines should not be given to SCID
patients: they may contract infection from
vaccine viruses
 So if family history of SCID is +ve : avoid
live vaccines

Diagnosis
 Easiest way to diagnose: Absolute
lymphocyte count (ALC)

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 Normally ALC >4000/cu mm; 70% of
which are T cells
 SCID have ALC < 1500/cu mm
 If ALC found low If low again → Repeat
test again→ specific tests to be done to
count T cells and measure T cell function
 HIGM results from defect in interaction
between T and B cells
DIAGNOSIS
Characteristic: failure to express CD40L on activated
T cells – can be assessed by flow cytometry

2. COMBINED IMMUNODEFICIENCIES
 Group of rare genetic disorders that result in Flow cytometry (FC)
combined immunodeficiency but do not
 is an immunophenotyping technique in
reach a clinical severity level to qualify as
which suspensions of living cells are
SCID
stained with specific, fluorescently labeled
 7 types
antibodies and then analyzed with a flow
1. Bare lymphocyte syndrome
cytometer.
2. Purine nucleosidase
phosphorylase deficiency So, for exact diagnosis: demonstration of CD40L
3. ZAP70 deficiency gene mutation
4. CD25 deficiency
5. Cartilage hair hypoplasia 5. ATAXIA TELANGIECTASIA
6. Coronin 1A deficiency  Mutation in ATM gene (11q)
7. MHC class I deficiency  This gene is required for cell repair after
DNAdamage
3. WISKOTT ALDRICH SYNDROME
 2 important presenting features:
TRIAD:
1. Increased tendency to bleed: due to small, ATAXIA
dysfunctional and decreased number of  Abnormality in cerebellum
platelets  Can be confused with cerebral palsy (CP)
2. Recurrent infection  In AT neurologic deterioration occurs with
3. Eczema age (but not in CP)
 Needs wheelchair by 10-12 yrs. age
 Associated with WAS gene mutation
 Was gene produces WAS protein (WASp) TELANGI ECTASIA
 If mutation is severe: complete absence of WAS  Dilated and corkscrew shaped vessels esp.
protein: known as classic WAS in white of eyes
 If mutation is mild: some mutated WAS protein DIAGNOSIS
present: known as milder form of WAS
 Clinical feature is very important but
Diagnosis difficult to diagnose at early age as
telangiectasia occurs only by 5 yrs. of age
1. Platelet abnormality: decreased number and  Most imp test: AFP levels in blood – 95%
small size: characteristic have increased levels
2. Increased IgE
3. Sequencing of WAS gene to identify mutation: 6. DI GEORGE SYNDROME
definitive diagnosis  Defect: microdeletion in 22q11.2
4. Determine WAS protein expression in blood  So, aka: 22q11.2 syndrome
cells  Aka: velocardiofacial syndrome,
conotruncal anomaly face syndrome
4. HYPER IgM SYNDROME
 Inability to switch from production of Ab of THYMUS GLAND
IgM type to Abs of IgG, A or E types
 Normal B cells can produce IgM on their  Thymic hypoplasia
own but require Help from T cells to switch  T-cell number and maturation defect
from IgM to IgG, A, E  So, increased susceptibility to infections

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MEDICAL-SURGICAL|
1 SEMESTER ST

A.Y. 2022-2023

PARATHYROID GLAND DIAGNOSIS  Comel-netherton syndrome(C-NS)

 Underdeveloped and hypoparathyroidism
occurs
 Hypocalcemia occurs
SYMPTOMS
 Certain facial features are often seen with
DGS
 low set ears
 underdeveloped chin
 short philtrum (the vertical
groove on the upper lip)
 a bulbous nose tip
 heavy eyelids and/or a small
mouth.
 Nasal sounding speech can occur when a
cleft palate is involved. Short stature,
learning difficulties or certain psychiatric
disorders are also common.
Treatment options include:
 Prophylactic antibiotics
 IV immunoglobulin
 Stem cell or bone marrow transplantation
 New biologicals
 Gene therapy
Outcomes for children with immunodeficiency
dependent depends on the following:
 Timely recognition
 Adequate therapy and surveillance
 The nature of the underlying disease
NUSING MANAGEMENT
 Adherence to infection control practices.
 Continuous monitoring of patients to
identify early signs of infections.
 Health teaching in administrations of home
medications like Ig replacement therapy.

Diagnosis

 FISH analysis to identify 22q11.2 deletion

OTHER PRIMARY CELLULAR

IMMUNODEFICIENCIES
 Chronic mucocutaneous candidiasis
 Cartilage hair hypoplasia
 X-linked lymphoproliferative syndrome 1
&2
 Veno occlusive disease
 Schimke syndrome
 X-linked immune dysregulation and
polyendocrinopathy syndrome (IPEX)
 Hoyeraal-Hereidarson syndrome
(dyskeratosis congenita)
 Immunodeficiency with centromeric
instability anomalies (ICF)

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