Primary immunodeficiencies
Immunodeficiencies that are truly the underlying cause. not a secondary characteristic of another disease.
Normal Child immune system
- 6-8 respiratory infections per year for first 10-12 years.
- 6 episodes of otitis and 2 episodes of GE per year for first 2-3 years.
A child with an immunodeficiency should NOT receive what?
Live virus vaccines.
XLA
-Brunton’s
-X-linked hypogammaglubulinemia
-B-cell deficiency
-Pyogenic infxns
Tx: IVIG, IGSC
-Reduces number and deficiency of infxns
sIgAD
- Selective IgA deficiency
- Decreased IgA with normal IgM and IgG
- Should be made after age 4
- Most common primary immunodeficiency in adults
sIgAD presentation
- Incidental finding w/o clinical features in most persons.
- Increased incidence of sinopulmonary infxns
Patients with sIgAD should NOT get a____?
Transfusion, or gamma globulin because of possible anaplylaxis against IgA in donor blood.
B cells protect against?
Bacteria
T cells protect against?
Viruses, Fungus
CVID
- B-cell deficiency
- Common variable immunodeficiency
- Defective immunoglobulin production
- Markedly low levels of IgG, low levels of IgA and IgM.
- A collection of diseases
CVID presentation
- Recurrent sinopulmonary infxns
- Malignant disease, inflammatory disorders, autoimmunity
- Chronic intestinal disease
Thymic Aplasia
T-cell deficiency DiGeorge's Syndrome -Defective development of pharyngeal pouch system, which gives rise to thymus, thyroid, parathyroid -Hypothyroidism (cretinism) -Hypoparathyroidism
Thymic aplasia presentation
- Severe viral, fungal, protozoal infxns
- Occurs early in life
- Pneumonia and thrush are most common
- Cardiac abnormalities, tetany
- facial abnormalities, cleft pallet
Thymic aplasia management
- Immediate tx of cardiac dysfxn.
- Control metabolic abnormalities (hypocalcemia and tetany)
- Give only irradiated blood
- If severe, consider thymus transplant
SCID
Severe Combined Immunodeficiency (bubble boy)
- Absence of normal thymic tissue and other lymph tissues and devoid of lymphocytes.
- Both B and T cells are defective*
- Levels may be very low, or normal but not functioning properly.
SCID Presentation
- Failure to thrive: Usually die within first 1-2 years.
- Pneumocystis, viral infxns
- Chronic diarrhea, diaper rash
- Thrush
SCID Tx
- Bone marrow or blood transplantation may restore immunity.
- Transplants done in first 3 months of life have high success rates.
- IVIG
- Enzyme replacement drugs
SCID Genetic Defect
Is from several different areas/genes
X-linked most common
Some are autosomal
Wiscott Aldrich, Ataxia-Telangiectasia
VERY rare combo immunodeficiency diseases.
Hereditary Angioedema
- Uncommon autosomal dominant disease
- Caused by a deficiency of C1 inhibitor.
- Characterized by edema of axilla and airway.
- Abd. pain, N/V
Hereditary Angioedema Mgmt
Acute: May have to intubate if airway is affected.
- Human plasma (C1 inhibitor concentrate)
- FFP’s, androgens, C1 inhibitor for prophylaxis or chronic disease state.
Malnutrition Immunodeficiency
- Increased infxn rates
- contributing factor in 60% of infxn related deaths in latin america.
- T cells decline, specific AB responses impaired
- Declined phagocytic fxns
- Lymphoid organs depleted of cells
Infections that result in immunodeficiency
HIV
Measles (T-cell lymphopenia)
Parasite infections (alteration of macrophage fxn)
Cancer
Immune deficiency secondary to chemo, radiation, and cancer itself.
- Chronic lymphocytic leukemia
- Multiple myeloma
- Solid tumors (inhibit fxn of lymphocytes)
