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IMMUNO DEFICIENCY
DISORDERS
Dr K V CHAKRADHAR

ASSISTANT PROFESSOR,
DEPARTMENT OF MICROBIOLOGY,
NRIIMS.
DEFINITIONS
• Immunity
• Immune system
• Components of Immune
systems
IMMUNODEFICIENCY DISORDERS
• Definition:
Immunodeficiency- an abnormality of the immune system that renders
a person susceptible to diseases normally prevented by a normal
functioning immune system.
CLASSIFICATION
• Immunodeficiency:
• Primary or Congenital:
•
•
•
•

Inherited (due to Mutation in genes controlling immune cells)
Susceptible to recurrent, severe infection; starting in children
Cannot recover without treatment
>125 immunodeficiency disorders

• Secondary or Acquired:
• As a consequence of other diseases or environmental factors
• E.g: Infection, Malignancy, Aging, Starvation, Medication & Drugs)
• Acquired Immuno Deficiency Syndrome – Human Immunodeficiency Virus.
PRIMARY OR CONGENITAL
IMMUNODEFICIENCY
• Four Categories Immune Mechanisms
• Humoral (Antibody or B-cell mediated)
• Specific type of mechanism

• Cell-mediated (T-cell mediated)
• Specific type of mechanism

• Complement system
• Non-specific type of mechanism

• Phagocytosis
• Non-specific type of mechanism
PHAGOCYTOSIS

CELL MEDIATED
IMMUNITY

HUMORAL IMMUNITY
DEFECTS IN HUMORAL MEDIATED
IMMUNITY
• Caused by the improper production of one or all of the
immunoglobins (antibodies)
• Results in an increased of infections from Staphylococcus,
Streptococcus, Haemophilus, and Pseudomonas.
• Humoral Immunodeficiencies include:
• Bruton’s X-Linked Agammaglobinulinemia
• Common Variable Immunodeficiency
• Selective Immunoglobin A Deficiency
DEFECTS IN CELL MEDIATED
IMMUNITY
• Caused by defects in T lymphocyte development (both CD4+ helper
cells and CD8+ cytotoxic killer cells)
• Symptoms are more severe than with humeral immunodeficiencies

• Children rarely survive beyond infancy or childhood
• Cell Mediated Immunodeficiency disorders include:
• DiGeorge Syndrome
• X-Linked Immunodeficiency with Hyper-IgM
COMBINED T-CELL AND B-CELL
IMMUNODEFICIENCIES
• Severe Combined Immunodeficiency (SCID)
• Ataxia Telangiecctasia
• Wiskott Aldrich syndrome
• Severe Combined Immunodeficiency (SCID)
• Caused by diverse genetic mutations resulting in the absence of
ALL immune function
• Infants with this disease lead a short life (~ 2 years) with chronic
opportunistic infections
• There is a milder form known as combined immunodeficiency
syndrome having a low, but not absent T-cell function.
• Ataxia Telangiectasia:
• Results from a mutation on chromosome 11
• Condition consists of worsening ataxia (lack of coordination) and
telangiectasia (dilated capillaries and arterioles) on the skin and
conjunctiva.

• Children have reduced levels of IgA, IgE, and IgG, and decreased
ratio of CD4+ helper T cells to CD8+ cells.
• Children are prone to recurrent upper and lower respiratory
infections and an increased risk of malignancy.
• Death from lymphoma is common
TELANGIECTASIS
• Wiskott-Aldrich Syndrome:
• Patient has decreased IgM and elevated levels of IgA and IgE.
• T-cell dysfunction is initially mild then progressively worsens
making child susceptible to Hodgkin’s disease and lymphoma
• They are also susceptible to infections (including septicemia and
meningitis) caused by encapsulated microorganisms

• Signs and symptoms:
• eczema
• chronic infections
• low platelet counts
DISORDERS OF COMPLEMENT SYSTEM
• Complement system is an important part of the non-specific immune
response.

• Complement promotes chemotaxis, opsonization, and phagocytosis
of invasive pathogens, bacteriolysis, and anaphylactic reactions.
• Primary complement disorders are caused by genetic problems
• Deficiency of C1 to C4 are not at increased risk for infection
because alternate pathways can be activated.
• These patients are more prone to autoimmune diseases such as
Lupus Erythematosus and increased susceptibility to pyogenic
infections
• Deficiency of late complement components (C5, C6, C7, C8)
results in systemic Neisseria infections such as meningococcal
sepsis, meningitis and disseminated gonococcal infections.
• Abnormalities of the control proteins of the alternative pathway
(factor H, factor I, properdin) may result in recurrent infections.
• Deficiency of complement inhibitors (C1 esterase inhibitor,
carboxypeptidase N) leads to Hereditary Angioneurotic Edema
• Secondary Disorders of Complement
• Occur in persons with normal complement systems who have
rapid activation or turnover of complement components
• Can also occur with conditions where there is a decreased
production complement components such as in liver cirrhosis or
malnutrition.
DISORDERS OF PHAGOCYTOSIS
• Phagocytic system:
• Composed primarily of:
• Neutrophils, Eosinophils and Monocytes.
• Phagocytic cells function to migrate to site of infection, adhere to the
tissue, engulf invading material, and then digest it.
• A defect in the phagocytic system results in a decreased number of
phagocytic cells.
• Persons are prone to bacterial infections, often by Candida and
filamentous fungi.
Disorder

Inheritance

Clinical Features

1) Chronic
granulomatous
disease

X-linked (66%);
autosomal
recessive (33%)

Infections with catalase producing bacteria
and fungi affecting skin, lungs, liver;
granuloma formation

2)Myeloperoxidase
deficiency

Autosomal
Recessive

Fungal infections (candidiasis) in deep tissues,
especially in presence of diabetes

3)Leukocyte
adhesion
deficiency

Auto-somal
recessive

Delayed separation of the umbilical cord; skin
infections; otitis media; pneumonia; gingivitis;
periodontitis

4)Abnormal
chemotaxis
-Hyper IgE
-chediak-Higashi

Variable

Recurrent skin infections with staphylococci.
enteric bacteria, Neuropathy, Occulocultaneous albinism in chediak higashi
GIANT GRANULES IN
NEUTROPHILS

CHEDIAK-HIGASHI
SYNDROME
CHRONIC GRANULOMATOUS
DISEASE

MECHANISM OF
RESPIRATORY BURST
-

Myeloperoxidase

MYELOPEROXIDASE
DEFICIENCY
EVALUATION OF IMMUNODEFICIENCY
Often present
Usually present
1. Recurrent respiratory
tract infections
2. Severe bacterial
infections
3. Recurrence of same
type of bacteria
4. Paucity of lymph nodes
and tonsils

1. Persistent sinusitis or
mastoiditis
2. Failure to thrive
3. Intermittent fever
4. Skin lesions
5. Diarrhea
6. Hearing loss due to chronic
middle ear infections
7. Chronic conjunctivitis
8. Bronchiectasis
9. Evidence of autoimmunity
10. Hematologic abnormality

Occasionally present
1.
2.
3.
4.
5.
6.

Lymphadenopathy
Hepatosplenomegaly
Severe viral illnesses
Chronic encephalitis
Deep infections
Delayed umbilical
detachment
7. Adverse reactions to
vaccines
CHARACTERISTIC FEATURES OF PRIMARY
IMMUNODEFICIENCY DISORDERS
Characteristic

T- cell defect

B- cell defect

Granulocyte defect

Complement defect

Age of onset of
infection

Early; 2-6 months

After 5-7 months

Early onset at birth

Any age

Specific pathogens

Mycobacteria,
Viruses, Fungus like
Candida and
parasites

Pyogenic bacteria
mainly Streptococci,
Staphylococci
Hemophilus
enteroviruses

Bacteria;
Staphylococcus
Pseudomonas
Klebsiella

Bacteria

Systemic effects

Failure to thrive,
Extensive
mucocutaneous
Candidiasis

Recurrent
sinopulmonary
infections
Malabsorption
Enteroviral
encephalitis

Skin abscesses,
impetigo, cellulitis

Recurrent
sinopulmonary
infections
Meningitis

Special features

GVHD, Post
vaccination
disseminated BCG or
Varicella
Hypocalcemic tetany
in infancy

Autoimmunity
Lymphoma
Thymoma
Post vaccination
paralytic polio

Prolonged
attachment of
umbilical cord
Poor wound healing

Autoimmune diseases
LABORATORY EVALUATION OF
IMMUNODEFICIENCY DISORDERS
• Routine investigations:

• Total and differential leucocyte counts
• Absolute lymphocyte count
• Normal result rules out T- cell defect

• Absolute neutrophil count
• Normal study rules out granulocyte defect

• Platelet count and morphology
• Normal result rules out WAS

• Howell- Jolly bodies
• ESR
Suspected B cell defect

Serum Electrophoresis

Hypogammaglobulinemia

Immunoglobulin pattern

B cell count
Low

XLA

Normal

Abnormal

Possible CVID

Normal

Consider complement or
phagocytic dysfunction
SECONDARY OR ACQUIRED
IMMUNODEFICIENCY
• Acquired immunodeficiency syndrome (AIDS) is a secondary
immunodeficiency

• AIDS is a disease caused by the retrovirus Human Immunodeficiency
Virus (HIV) which is a single stranded RNA virus
• It is characterized by profound immunosuppression that leads to
opportunistic infections, secondary neoplasms and neurologic
manifestations.
PATHOGENESIS OF
AIDS

AIDS
TRANSMISSION OF HIV INFECTION
• Sexual contact
• Most frequent mechanism
• 75-80% via unprotected sex
• The virus can pass from semen and vaginal secretions into the
bloodstream through mucous membranes and wounds in the skin.

• Blood-to-blood contact
• Needle stick injury
• Sharing of needles or
• Transfusion of blood and blood products.
• Perinatal transmission can occur in utero, during labor, or by breast
feeding
• Studies still show that HIV does not spread through casual contact or
by vectors such as mosquitoes
MAJOR ABNORMALITIES OF IMMUNE
FUNCTION IN AIDS
• Lymphopenia
• Predominantly due to selective loss of CD4+ helper inducer T cell
subset and reversal of CD4:CD8 ratio
• Decreased T cell function
• Preferential loss of memory T cells
• Susceptibility to opportunistic infections and neoplasms
• Decreased type IV hypersensitivity
• Polyclonal B cell activation
• Hypergammaglobulinemia and circulating immune complexes
• Altered monocyte and macrophage function
• Decreased chemotaxis
• Diminished antigen presenting to T cells.
Infected helper T-cell
The small blue globules are
HIV particles.
CLINICAL MANIFESTATIONS OF
AIDS
• An infection by microorganism that normally does not cause disease
but become pathogenic when the body’s immune system is impaired
and unable to fight off the infection are “opportunistic infections”
(OIs).
• OIs are the hallmark of immunodeficiency with HIV
• It is important to diagnose OIs as the acute infections are at times lifethreatening and effective prophylaxis and treatment renders better
survival.
AIDS DEFINING OPPORTUNISTIC INFECTIONS
AND NEOPLASMS
• Infections:
• Protozoal and helminthic infections
•
•
•
•

Cryptosporidiosis or Isosporidiosis
Pneumoncystitis jirovecii pneumonia or disseminated infection
Toxoplasmosis
Strongyloidiasis

• Fungal infections
•
•
•
•

Candiadisis (esophageal, tracheal or pulmonary)
Cryptococcosis
Coccidioidomycosis
Invasive Aspergillosis

• Bacterial infections
• Mycobacteriosis (M. tuberculosis or atypical mycobacteriosis)
• Nocardiosis (Pneumonia, Meningitis or disseminated)
• Salmonellosis
• Viral infections
• Cytomegalovirus (pulmonary, intestinal, retinitis or CNS infection)
• Herpes- simplex virus and varicella – Zoster virus (localized or disseminated)
• Progressive multifocal leucoencephalopathy

• Neoplasms
•
•
•
•

Kaposi’s sarcoma
B cell non Hodgkin lymphoma
Primary lymphoma of brain
Invasive cancer of the cervix.
• There is a correlation between CD4 count and HIV related infections.
> 500 cells/mm3 – Recurrent vaginal candidiasis
200-500 cells/mm3 – Pulmonary TB, Pneumococcal pneumonia,
Herpes zoster, Oropharyngeal candidiasis, Recurrent Salmonellosis
< 200 cells/mm3 – Pneumocystis jirovecii pneumonia, mucocutaneous
Herpes simplex, Cryptosporidiosis, Esophageal candidiasis, Miliary/
Extrapulmonary TB.

< 100 cells/mm3 – cerebral Toxoplasmosis, Cryptococcal meningitis
< 50 cells/mm3 – CMV retinitis & gastrointestinal disease and
disseminated Mycobacterium avium intercellulare
Laboratory parameters
during the course of the
illness
• Tests to detect the presence of infection
• Detection of viral antigens in the serum
• Detection of antibodies to viral antigens in the serum
• Detection of viral genomic material in the blood
• Tests to determine the extent of the disease
• Total CD4+ helper T-cell count
• Quantitative viral RNA copies in blood.
• Tests to detect the presence of various opportunistic infections.
TREATMENT
PRIMARY IMMUNODEFICIENCIES
• B cell deficiencies:
• IV Immunoglobulin 200-800mg/kg
• Culture and sensitivity of organisms causing infection
• Early drainage of abscess
• Early control of infection
• T cell deficiencies:
• Early treatment of infection
• Transplantation of foetal thymus or HLA matched bone marrow
• Topical and systemic antifungal therapy

• Stem cell transplantation is definitive therapy for SCID and most of
phagocytic disorders like LAD, CGD and Chediak- Higashi disease
• More recently Gene therapy has been attempted as an alternative to
the bone marrow transplant
• Transduction of the missing gene to hematopoietic stem cells
using viral vectors is being tested in ADA SCID and X-linked SCID
• In 1990, four-year-old Ashanthi DeSilva became the first patient to
undergo successful gene therapy. Researchers collected samples
of Ashanthi's blood, isolated some of her white blood cells, and
used a virus to insert a healthy adenosine deaminase (ADA) gene
into the defective cells.

• These cells were then injected back into her body, and began to
express a normal enzyme. This, augmented by weekly injections of
ADA, corrected her deficiency.
SECONDARY
IMMUNODEFICIENCIES
• Prompt and early instillation of anti retroviral therapy will help in control of the
disease
• Prophylaxis to prevent development of opportunistic infections.
Mobile: 99899 10303
Email ID: chaksdegr8@yahoo.co.in

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Immuno deficiency disorders

  • 1. IMMUNO DEFICIENCY DISORDERS Dr K V CHAKRADHAR ASSISTANT PROFESSOR, DEPARTMENT OF MICROBIOLOGY, NRIIMS.
  • 2. DEFINITIONS • Immunity • Immune system • Components of Immune systems
  • 3. IMMUNODEFICIENCY DISORDERS • Definition: Immunodeficiency- an abnormality of the immune system that renders a person susceptible to diseases normally prevented by a normal functioning immune system.
  • 4. CLASSIFICATION • Immunodeficiency: • Primary or Congenital: • • • • Inherited (due to Mutation in genes controlling immune cells) Susceptible to recurrent, severe infection; starting in children Cannot recover without treatment >125 immunodeficiency disorders • Secondary or Acquired: • As a consequence of other diseases or environmental factors • E.g: Infection, Malignancy, Aging, Starvation, Medication & Drugs) • Acquired Immuno Deficiency Syndrome – Human Immunodeficiency Virus.
  • 6. • Four Categories Immune Mechanisms • Humoral (Antibody or B-cell mediated) • Specific type of mechanism • Cell-mediated (T-cell mediated) • Specific type of mechanism • Complement system • Non-specific type of mechanism • Phagocytosis • Non-specific type of mechanism
  • 8. DEFECTS IN HUMORAL MEDIATED IMMUNITY • Caused by the improper production of one or all of the immunoglobins (antibodies) • Results in an increased of infections from Staphylococcus, Streptococcus, Haemophilus, and Pseudomonas. • Humoral Immunodeficiencies include: • Bruton’s X-Linked Agammaglobinulinemia • Common Variable Immunodeficiency • Selective Immunoglobin A Deficiency
  • 9. DEFECTS IN CELL MEDIATED IMMUNITY • Caused by defects in T lymphocyte development (both CD4+ helper cells and CD8+ cytotoxic killer cells) • Symptoms are more severe than with humeral immunodeficiencies • Children rarely survive beyond infancy or childhood • Cell Mediated Immunodeficiency disorders include: • DiGeorge Syndrome • X-Linked Immunodeficiency with Hyper-IgM
  • 10. COMBINED T-CELL AND B-CELL IMMUNODEFICIENCIES • Severe Combined Immunodeficiency (SCID) • Ataxia Telangiecctasia • Wiskott Aldrich syndrome
  • 11. • Severe Combined Immunodeficiency (SCID) • Caused by diverse genetic mutations resulting in the absence of ALL immune function • Infants with this disease lead a short life (~ 2 years) with chronic opportunistic infections • There is a milder form known as combined immunodeficiency syndrome having a low, but not absent T-cell function.
  • 12. • Ataxia Telangiectasia: • Results from a mutation on chromosome 11 • Condition consists of worsening ataxia (lack of coordination) and telangiectasia (dilated capillaries and arterioles) on the skin and conjunctiva. • Children have reduced levels of IgA, IgE, and IgG, and decreased ratio of CD4+ helper T cells to CD8+ cells. • Children are prone to recurrent upper and lower respiratory infections and an increased risk of malignancy. • Death from lymphoma is common
  • 14. • Wiskott-Aldrich Syndrome: • Patient has decreased IgM and elevated levels of IgA and IgE. • T-cell dysfunction is initially mild then progressively worsens making child susceptible to Hodgkin’s disease and lymphoma • They are also susceptible to infections (including septicemia and meningitis) caused by encapsulated microorganisms • Signs and symptoms: • eczema • chronic infections • low platelet counts
  • 15. DISORDERS OF COMPLEMENT SYSTEM • Complement system is an important part of the non-specific immune response. • Complement promotes chemotaxis, opsonization, and phagocytosis of invasive pathogens, bacteriolysis, and anaphylactic reactions.
  • 16. • Primary complement disorders are caused by genetic problems • Deficiency of C1 to C4 are not at increased risk for infection because alternate pathways can be activated. • These patients are more prone to autoimmune diseases such as Lupus Erythematosus and increased susceptibility to pyogenic infections • Deficiency of late complement components (C5, C6, C7, C8) results in systemic Neisseria infections such as meningococcal sepsis, meningitis and disseminated gonococcal infections.
  • 17. • Abnormalities of the control proteins of the alternative pathway (factor H, factor I, properdin) may result in recurrent infections. • Deficiency of complement inhibitors (C1 esterase inhibitor, carboxypeptidase N) leads to Hereditary Angioneurotic Edema • Secondary Disorders of Complement • Occur in persons with normal complement systems who have rapid activation or turnover of complement components • Can also occur with conditions where there is a decreased production complement components such as in liver cirrhosis or malnutrition.
  • 18. DISORDERS OF PHAGOCYTOSIS • Phagocytic system: • Composed primarily of: • Neutrophils, Eosinophils and Monocytes. • Phagocytic cells function to migrate to site of infection, adhere to the tissue, engulf invading material, and then digest it. • A defect in the phagocytic system results in a decreased number of phagocytic cells. • Persons are prone to bacterial infections, often by Candida and filamentous fungi.
  • 19. Disorder Inheritance Clinical Features 1) Chronic granulomatous disease X-linked (66%); autosomal recessive (33%) Infections with catalase producing bacteria and fungi affecting skin, lungs, liver; granuloma formation 2)Myeloperoxidase deficiency Autosomal Recessive Fungal infections (candidiasis) in deep tissues, especially in presence of diabetes 3)Leukocyte adhesion deficiency Auto-somal recessive Delayed separation of the umbilical cord; skin infections; otitis media; pneumonia; gingivitis; periodontitis 4)Abnormal chemotaxis -Hyper IgE -chediak-Higashi Variable Recurrent skin infections with staphylococci. enteric bacteria, Neuropathy, Occulocultaneous albinism in chediak higashi
  • 21. CHRONIC GRANULOMATOUS DISEASE MECHANISM OF RESPIRATORY BURST - Myeloperoxidase MYELOPEROXIDASE DEFICIENCY
  • 22. EVALUATION OF IMMUNODEFICIENCY Often present Usually present 1. Recurrent respiratory tract infections 2. Severe bacterial infections 3. Recurrence of same type of bacteria 4. Paucity of lymph nodes and tonsils 1. Persistent sinusitis or mastoiditis 2. Failure to thrive 3. Intermittent fever 4. Skin lesions 5. Diarrhea 6. Hearing loss due to chronic middle ear infections 7. Chronic conjunctivitis 8. Bronchiectasis 9. Evidence of autoimmunity 10. Hematologic abnormality Occasionally present 1. 2. 3. 4. 5. 6. Lymphadenopathy Hepatosplenomegaly Severe viral illnesses Chronic encephalitis Deep infections Delayed umbilical detachment 7. Adverse reactions to vaccines
  • 23. CHARACTERISTIC FEATURES OF PRIMARY IMMUNODEFICIENCY DISORDERS
  • 24. Characteristic T- cell defect B- cell defect Granulocyte defect Complement defect Age of onset of infection Early; 2-6 months After 5-7 months Early onset at birth Any age Specific pathogens Mycobacteria, Viruses, Fungus like Candida and parasites Pyogenic bacteria mainly Streptococci, Staphylococci Hemophilus enteroviruses Bacteria; Staphylococcus Pseudomonas Klebsiella Bacteria Systemic effects Failure to thrive, Extensive mucocutaneous Candidiasis Recurrent sinopulmonary infections Malabsorption Enteroviral encephalitis Skin abscesses, impetigo, cellulitis Recurrent sinopulmonary infections Meningitis Special features GVHD, Post vaccination disseminated BCG or Varicella Hypocalcemic tetany in infancy Autoimmunity Lymphoma Thymoma Post vaccination paralytic polio Prolonged attachment of umbilical cord Poor wound healing Autoimmune diseases
  • 25. LABORATORY EVALUATION OF IMMUNODEFICIENCY DISORDERS • Routine investigations: • Total and differential leucocyte counts • Absolute lymphocyte count • Normal result rules out T- cell defect • Absolute neutrophil count • Normal study rules out granulocyte defect • Platelet count and morphology • Normal result rules out WAS • Howell- Jolly bodies • ESR
  • 26. Suspected B cell defect Serum Electrophoresis Hypogammaglobulinemia Immunoglobulin pattern B cell count Low XLA Normal Abnormal Possible CVID Normal Consider complement or phagocytic dysfunction
  • 28. • Acquired immunodeficiency syndrome (AIDS) is a secondary immunodeficiency • AIDS is a disease caused by the retrovirus Human Immunodeficiency Virus (HIV) which is a single stranded RNA virus • It is characterized by profound immunosuppression that leads to opportunistic infections, secondary neoplasms and neurologic manifestations.
  • 30. TRANSMISSION OF HIV INFECTION • Sexual contact • Most frequent mechanism • 75-80% via unprotected sex • The virus can pass from semen and vaginal secretions into the bloodstream through mucous membranes and wounds in the skin. • Blood-to-blood contact • Needle stick injury • Sharing of needles or • Transfusion of blood and blood products.
  • 31. • Perinatal transmission can occur in utero, during labor, or by breast feeding • Studies still show that HIV does not spread through casual contact or by vectors such as mosquitoes
  • 32. MAJOR ABNORMALITIES OF IMMUNE FUNCTION IN AIDS • Lymphopenia • Predominantly due to selective loss of CD4+ helper inducer T cell subset and reversal of CD4:CD8 ratio • Decreased T cell function • Preferential loss of memory T cells • Susceptibility to opportunistic infections and neoplasms • Decreased type IV hypersensitivity
  • 33. • Polyclonal B cell activation • Hypergammaglobulinemia and circulating immune complexes • Altered monocyte and macrophage function • Decreased chemotaxis • Diminished antigen presenting to T cells.
  • 34. Infected helper T-cell The small blue globules are HIV particles.
  • 35. CLINICAL MANIFESTATIONS OF AIDS • An infection by microorganism that normally does not cause disease but become pathogenic when the body’s immune system is impaired and unable to fight off the infection are “opportunistic infections” (OIs). • OIs are the hallmark of immunodeficiency with HIV • It is important to diagnose OIs as the acute infections are at times lifethreatening and effective prophylaxis and treatment renders better survival.
  • 36. AIDS DEFINING OPPORTUNISTIC INFECTIONS AND NEOPLASMS • Infections: • Protozoal and helminthic infections • • • • Cryptosporidiosis or Isosporidiosis Pneumoncystitis jirovecii pneumonia or disseminated infection Toxoplasmosis Strongyloidiasis • Fungal infections • • • • Candiadisis (esophageal, tracheal or pulmonary) Cryptococcosis Coccidioidomycosis Invasive Aspergillosis • Bacterial infections • Mycobacteriosis (M. tuberculosis or atypical mycobacteriosis) • Nocardiosis (Pneumonia, Meningitis or disseminated) • Salmonellosis
  • 37. • Viral infections • Cytomegalovirus (pulmonary, intestinal, retinitis or CNS infection) • Herpes- simplex virus and varicella – Zoster virus (localized or disseminated) • Progressive multifocal leucoencephalopathy • Neoplasms • • • • Kaposi’s sarcoma B cell non Hodgkin lymphoma Primary lymphoma of brain Invasive cancer of the cervix.
  • 38. • There is a correlation between CD4 count and HIV related infections. > 500 cells/mm3 – Recurrent vaginal candidiasis 200-500 cells/mm3 – Pulmonary TB, Pneumococcal pneumonia, Herpes zoster, Oropharyngeal candidiasis, Recurrent Salmonellosis < 200 cells/mm3 – Pneumocystis jirovecii pneumonia, mucocutaneous Herpes simplex, Cryptosporidiosis, Esophageal candidiasis, Miliary/ Extrapulmonary TB. < 100 cells/mm3 – cerebral Toxoplasmosis, Cryptococcal meningitis < 50 cells/mm3 – CMV retinitis & gastrointestinal disease and disseminated Mycobacterium avium intercellulare
  • 39. Laboratory parameters during the course of the illness
  • 40. • Tests to detect the presence of infection • Detection of viral antigens in the serum • Detection of antibodies to viral antigens in the serum • Detection of viral genomic material in the blood • Tests to determine the extent of the disease • Total CD4+ helper T-cell count • Quantitative viral RNA copies in blood. • Tests to detect the presence of various opportunistic infections.
  • 42. PRIMARY IMMUNODEFICIENCIES • B cell deficiencies: • IV Immunoglobulin 200-800mg/kg • Culture and sensitivity of organisms causing infection • Early drainage of abscess • Early control of infection • T cell deficiencies: • Early treatment of infection • Transplantation of foetal thymus or HLA matched bone marrow • Topical and systemic antifungal therapy • Stem cell transplantation is definitive therapy for SCID and most of phagocytic disorders like LAD, CGD and Chediak- Higashi disease
  • 43. • More recently Gene therapy has been attempted as an alternative to the bone marrow transplant • Transduction of the missing gene to hematopoietic stem cells using viral vectors is being tested in ADA SCID and X-linked SCID • In 1990, four-year-old Ashanthi DeSilva became the first patient to undergo successful gene therapy. Researchers collected samples of Ashanthi's blood, isolated some of her white blood cells, and used a virus to insert a healthy adenosine deaminase (ADA) gene into the defective cells. • These cells were then injected back into her body, and began to express a normal enzyme. This, augmented by weekly injections of ADA, corrected her deficiency.
  • 44. SECONDARY IMMUNODEFICIENCIES • Prompt and early instillation of anti retroviral therapy will help in control of the disease • Prophylaxis to prevent development of opportunistic infections.
  • 45. Mobile: 99899 10303 Email ID: chaksdegr8@yahoo.co.in