12- Congenital And Acquired Immunodeficiencies Flashcards Preview

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Flashcards in 12- Congenital And Acquired Immunodeficiencies Deck (22):

What are the traits of primary immunodeficiency?

-genetic basis: may be congenital or expressed later in life
-gene defects that lead to blocks in the maturation or functions of different components of the immune system


What are the traits of secondary immunodeficiency?

-acquired: external force acting (disease, drugs, etc)
-IS damage due to infection, drug exposure, radiation, dietary deficiencies


Clinical manifestations of immunodeficiency commonly include:

-recurrent and overwhelming infections in very young children
-abnormal proliferation of lymphocytes


Three specific types of immunodeficiencies?

B cell

T cell

Innate immune


What do people's signs depend on?

Signs that present depend on what is deficient


Fun facts about primary immunodeficiencies

More than 100 known

20 represent 90% of clinical cases

Many single gene defects: know if missing this, what is likely deficiency outcome?

80% affected persons are


How are immunodeficiencies classified?

Grouped by cell type: every cell involved in the immune response can be affected

Can involve:
-decreased production
-decreased activation
-adhesion deficiencies
-internal cellular processes (lysosomes trafficking)
-effector molecule production

Usually revolves around cell missing something or missing altogether


What is the fundamental difference between primary and secondary immunodeficiency?

Primary: inherited/genetic basis

Secondary: acquired--> external force acting (disease/drugs,etc)


Match the deficiency with outcome for the following maturation deficiencies:
No RAG1/2:
No CD3:

No RAG1/2: no B/T cells, no adaptive
No TAP: no MHC 1= no CD8
No CD3: no T cell



Severe combined immunodeficiency

No adaptive response (no b or T cells)


X-linked agammaglobulinemia

"Without (A) antibodies (gammaglobulin)"


Innate deficiencies
Mutation in compliment genes:
E&P selectin mutation:
Integrin mutation:
Phagocyte oxidase enzyme mutation:

Mutation in compliment genes: defective complement cascade
E&P selectin mutation: WBCs cannot locate and get to tissue (LAD-1 disease)
Integrin mutation: leukocyte adhesion deficiency
Phagocyte oxidase enzyme mutation: macrophages do the reactive oxygen burst and cannot kill what they eat (chronic granulomatous)


Two innate deficiencies

Chronic ganalomatous: respiratory burst (toxic oxygen), people missing enzyme and cannot do that burst and macrophages cannot kill what they eat

LAD-1: e and p selections: WBCs cannot locate and get to tissue


Immunodeficiencies in activation:
CD40 ligand defect:
No IL4:
IL17 defect:
IL12 defect:

CD40 ligand defect: cannot activate B cells (looks like B cell deficiency)
No IL4: no TH2
IL17 defect: decreased TH17 response
IL12 defect: TH1 response defect


Immunodeficiency therapies, what do we do?

What are the replacement therapy examples?

Try to replace the deficiency, but replacing is not easy (Replacement Therapy)

-delivery of enzyme
-Pooled human gammaglobulins (IVIG)


Three types of immunodeficiency therapies

1) gene therapy
2) transplantation
3) replacement therapy


What do we do in gene therapy for immunodeficiency therapies?

Restore or complement the deficient gene (ex: ADA)

Not easy: viral based--> give a copy of intact gene


Transplantation as an immunodeficiency therapy, what do we do?

Hematopoietic stem cell (cord blood; bone marrow; fetal thymus; purified stem cells) if it's a stem cell mutation

HLA-identical sibs: >90% successful

Parental/unrelated disorders: GVHD

In utero or neonatal transplantation facilities tolerance


Secondary immunodeficiencies

Something else acting in it:

-Cancer radiation treatments or chemotherapy
-Viral infection (HIV)
-Immunosuppression for graft rejection
-Bone marrow cancers
-Spleen removal


What does HIV target and kill?



Describe the clinical course of HIV

-Primary infection
-infects T cells
- at first they fight back and HIV numbers decline while T cell numbers rise
-HIV overcomes and as T cells drop to zero, HIV spikes

About 8years without treatment
T cell population decreases enough that there are opportunistic infections and no T cells to fight them


Summary of primary and secondary immunodeficiencies

Immunodeficiency= lack of function of a component of the immune system

Immunodeficiency can affect any portion of the IS

Defects can be:
MILD: IgA lack can be compensated for