Part 1?Introduction

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Immunodeficiency disease
Part 1?Introduction Part 2?Primary
immunodeficiency diseases Part 3?Secondary
immunodeficiency diseases
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Part 1?Introduction Immunodeficiency disease,
IDD results from a genetic or developmental
defect or acquired factors in the immune system,
and is a syndrome mostly characterized by
infection in clinic.
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Pathogenesis abnormalities of immunocyte?molecule
s in development?
differentiation?metabolism?regulation,
etc. Clinical features increased susceptibility
to infection? recurrent?hard to
be cured?deferment?the infection of low
virulence pathogens.
increased incidence of
malignant tumor?autoimmune disease ?
hypersensitivity Classification
Primary immunodeficiency diseases
(PIDD)?Secondary
immunodeficiency diseases (SIDD)
specific?nonspecific
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Part 2?Primary immunodeficiency diseases
Inducement heredity?developmental defect Age
infancy and childhood Pathogenesis
the differentiation and development of
hemopoietic stem cells 1?IDD
characterized by humoral immunity
deficiency 2?IDD characterized by cellular
immunity deficiency 3? Combined immunodeficiency
diseases 4? Nonspecific immunodeficiency diseases
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1?IDD characterized by humoral immunity
deficiency Features increased susceptibility to
bacteria?enterovirus?
intestine parasites,delayed in growth and
development increased
incidence of autoimmune disease? malignant tumor
reduced numbers of
peripheral blood B cells,absent or reduced
levels of Ig Pathogenesis the
block of the differentiation and development of B
cells? reduced function of Th
cells 1)Brutons syndrome(x-linked
agammaglobulinaemia) 2)Selectively IgA
deficiency 3)Ig immunodeficiency with
increased IgM
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1)Brutons syndrome(x-linked agammaglobulinaemia)
Immunological features the absence of B cells
in blood and IgG
Pathogenesis block in the differentiation and
development of the
pre-B cells Genetic features x-linked recessive
inheritance, males Clinical features recurrent
bacterial infections,no Ab
responds to vaccination Treatment inject
pooled gamma globulin preparations
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2)Selectively IgA deficiencythe most common
immunodeficiency Immunological features lack
serum IgA, lt50mg/L,
decreased level of sIgA Pathogenesis failure in
terminal differentiation of B cells Clinical
features recurrent infections in respiratory
tract? alimentary
canal?urogenital tract Treatment breast
feeding,few of them can automatically
resume the ability to produce IgA
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3) Ig immunodeficiency with increased
IgM Immunological features increased level of
IgM, decreased levels of
other Ig Pathogenesis absent of the T cell
effector CD40L,CD40L can
not bind to CD40 of B cells,and therefore
do not stimulate B cells to
undergo Ab class
switching Genetic featuresx-linked recessive
inheritance,boy Clinical featuresrecurrent
pyogenic infections, increased
level of IgM, decreased levels of IgA?IgG

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2?IDD characterized by cellular immunity
deficiency Features increased susceptibility to
intracellular microbes
notable delay in growth and development?death in
the early age increased
incidence of malignant tumor
reduced numbers of peripheral blood B cells,no
reaction to DTH ,no reaction
to HVGR block in the
differentiation and development of the T cells
1)DiGeorge syndrome (genetical thymus
hypoplasia,third and fourth pharyngeal arch
syndrome) 2)Structure and function defect of T
cell surface molecules
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1)DiGeorge syndrome (genetical thymus
hypoplasia,third and fourth pharyngeal arch
syndrome) Immunological featuresabsent or
hypogenesis of the thymus Pathogenesisnon
heredity Genetic featuresdecreased function of
the cellular immunity,defect function of the
parathyroid gland Clinical features recurrent
infections of intracellular bacteria,no reaction
to HVGR Treatmentfetal thymic transplantation
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2)Structure and function defect of T cell surface
molecules 1.   absent of the TCRTCRab 2.   mutant
of the CD3 molecular 3.    defect of the NF-AT
genereduced ability of the immune

response,reduced level of IL-2 4.    others
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3? Combined immunodeficiency diseases
1)SCID severe combined immunodeficiency disease
2) immunodeficiency diseases with enzymes
defect 3) immunodeficiency diseases with
other severe defects
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SCID severe combined immunodeficiency
disease lose of the humoral immunity and cellular
immunity at the same time 1. Autosomal recessive
SCID Immunological featuresdefect of the common
precursors of T and B
cells 2. Defects in HLA II molecular
SCID Immunological features increased
susceptibility to virus infection,
no CD4T cells in peripheral blood
? decreased
Function of the B cells 3. x-linked SCID
Pathogenesisgene mutation of IL-2 receptor g
chain reduced
numbers of peripheral blood T cells and NK
cells
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4?Nonspecific immunodeficiency diseases 1)deficien
cy of phagocytes Immunological
featuresdecreased number and defected function
of macrophages
Clinical featureschronic granulomatous disease
Pathogenesisdeficient in NADH/NADPH oxidase in
neutrophils,
decreased the ability in bacterial killing
dependent on oxygen
radical 2)deficiency of complement components
genetic deficiencies of complement components
or complement regulatory proteins
hereditary angioneurotic oedema, deficiency of
C1INH, vasodilatation,increased
permeability of the blood capillary
skin?mucous membrane edema
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Part 3?Secondary immunodeficiency diseases
1?succeed some diseases SIDD 2?iatrogenic SIDD
3?acquired immunodeficiency syndrome AIDS
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1?succeed some diseases SIDD
infectionvirus infection decreased function of
cellular immunity,
decreased function of the T cells     
malignant tumorsdecreased function of cellular
immunity
decreased function of the T cells
notablely decreased
function of the T and B cells   Loss of
proteins excessive consume or insufficient
synthesis
decreased level of Ig, decreased function of
humoral immunity
severe
malnutrition decreased function of the T cells
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2? iatrogenic SIDD  1)  using
immunosuppressive drugs?some antibiotics,
antineoplastic for a long time 2) damage
by irradiation
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3? acquired immnodeficiency syndrome,AIDS
     1)   etiologyRNA retrovirus HIV
HIV-1

HIV-2
infect CD4T?Mf?glial
cell
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HIV and AIDSan infectious agent
only 2 cases of Pneumocystis carinii pneumonia in
Los Angeles in 1967-1978
1979 5 cases of Pneumocystis carinii pneumonia
All of them were homosexual
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HIV and AIDScellular basement
Decreased number of a type of cells in the course
of the disease CD4 Th cells Decreased number of
CD4 cells always before the happen of the disease
Decreased number of another type of cells in the
later stage of the disease CD8 T cells
AIDS is an infectious disease induced by a type
of virus.
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Defination of AIDS
The blood CD4 T cell count drops below 200
cells/mm3 in the HIV-infected patients.
AIDS is the results of the persistive infection
of HIV.
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HIV - virus
membranederived from the host cell membrane two
kinds of glycoproteins gp160 gp120 and
gp41 gp41 is a transmembrane protein, and gp120
is an external protein, noncovalently associated
with membrane.
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HIV - life cycle
enter into cell CD4T cell is the major target
cell
human HeLa cells transfected with CD4 antigen
human HeLa cells
without infection
infection
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2) Pathogenesis and Immunological features HIV
gp120 infect CD4 host cells lead
to (1) virus replication,cell death (2) fusion of
the cells multinucleated giant cells, cell
death (3)decrease or invert the ratio of CD4/CD8
the decline of Th
cells,the depletion and loss of function of Th
cells polyclonal activation of the B
cells Mf increased levels of the
IL-1 and TNF-a Decreased nuber of the
NK cells,increased incidence of malignant
tumor?virus infection
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3)Clinical features Latent period6 month4
year Infection phaseinfluenza-like
symptom?infectious Abs production3-20
weeks symptomAIDS related complex ARC
(1)   opportunistic infections
(2)  malignant tumorsKaposis sarcoma?malignant
lymphoma
(3)   abnormal of the central nervous system
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4)epidemiology?prevention and cure
major group at riskhomosexual?drug abusers?
infected
blood or blood products spread
mannersexual contact?blood?mother-to-
child transmission
5)detection and Treatment Ab
detection treatmentvaccine
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• to mast the concept and the features of the
  immunodeficiency diseases
• to mast the immunological features of the
  DiGeorge syndrome?Brutons syndrome?Selectively
  IgA deficiency
• to be familiar with the immunological features
  of PIDD
• to be familiar with the pathogenesis?
  immunological features and clinical features of
  AIDS
• to know the classification of the
  immunodeficiency diseases and the features of all
  types of immunodeficiency diseases
• to know the types of Combined immunodeficiency
  diseases
• to know the pathogenesis and immunological
  features of SIDD