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Allergy/Immunology > Primary immunodeficiency > Flashcards

Primary immunodeficiency Flashcards

When recurrent infections signal something more

1
Q

Most common causes of recurrent infections?

A

Allergies

Immunodeficiencies

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2
Q

Incidence of PIs (Primary immunodeficiencies)

A

1:2000 live births

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3
Q

What are PIs

A

Inherited disorders affecting the functioning of the imnune system, predisposing pt to infection, autoimmune disease, aberrant inflammatory response and malignancy

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4
Q

3 main types of PIs

A
  1. Humoral (antibody) deficiency
  2. Cellular deficiency
  3. Combination humoral + cellular deficiencies
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5
Q

Key presenting feature of PIs

A

Increased susceptibility to infection

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6
Q

Specific types of PIs

A
  1. B-cell immunodeficiencies (50%)
  2. Combined T-cell and B-cell immunodeficiencies (20%)
  3. Phagocyte immunodeficiencies (18%)
  4. T-cell immunodeficiencies (10%)
  5. Complement immunodeficiencies (2%)
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7
Q 
Warning signs (1-5/10)
2 or +, further assess
A
  1. 4 or more new ear infections/year
  2. 2 or more serious sinus infections/year
  3. 2 or more months on antibiotics with little effect
  4. 2 or more Pneumonias/year
  5. Failure of an infant to gain weight or grow normally
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8
Q 
Warning signs (6-10/10)
2 or +, further assess
A
  1. Recurrent, deep skin or organ abscesses
  2. Persistent thrush in mouth or fungal infection on skin
  3. Need for IV antibiotics to clear infections
  4. 2 or more deep seated infections, including septicemia
  5. Family Hx PIs
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9
Q

B cell disorders (common)

A
  1. Selective IgA deficiency: recurrent sinopulmonary infection, GI disorders, Allergy, Cancer, autoimmune disease
  2. IgG2 subclass/selective deficiency: same, some Pts: recurrent bacterial infections
  3. Transient Hypogammaglobulinemia of infancy: upper or lower respiratory tract infections
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10
Q

B cell disorders (uncommon)

A
  1. X-linked agammaglobulinemia (XLA): inf begin at 4-6 mo, pyogenic inf PROMINENT, viral inf possible, susceptibility to encapsulated bacteria, Sinusitis, Otitis Media, Pneumonia
  2. Common variable immunodeficiency (CVID): Recurrent upper or lower resp tract inf, Bronchiectasis, Enteropathy, Autoimmune manifestions, Malignancy
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11
Q

T cell disorders (common)

A

DiGeorge anomaly (partial): presents in the first few days of life, dysmorphic facies, Hypocalcemia, Depressed T cell immunity, congenital heart disease

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12
Q

T cell disorders (uncommon)

A

DiGeorge anomaly (complete): thymic aplasia, susc to infection, susc to graft vs host disease (GVHD)

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13
Q

Severe combined immunodeficiencies (uncommon)

A

Severe combined immunodeficiency (SCID), Wiskott-Aldrich syndrome, Ataxia Telangiectasia, Chronic granulomatous disease, Leukocyte adhesion deficiency, Complement component disorders

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14
Q

Severe combined immunodeficiency (SCID)

A

FTT, onset of inf neonatal period, opportunistic infections, chronic or recurrent thrush, chronic rash, chronic or recurrent diarrhea, paucity of lymphoid tissue

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15
Q

Wiskott-Aldrich syndrome

A

Eczema, thrombocytopenia, bacterial infection

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16
Q

Ataxia Telangiectasia

A

Vascular malformations, Neurologic defects, Tumors and immunodeficiency

17
Q

Chronic granulomatous disease

A

Recurrent infections to catalase + organisms (Staph aureus, Aspergillus, Nocardia, Serratia marcescens, E Coli, Burholderia Cepacia)
Granulomas: skin, liver, lungs, lymph nodes

18
Q

Leukocyte adhesion deficiency

A

Recurrent ST infections
Delayed umbilical cord separation
Severe periodontal disease

19
Q

Complement component disorders

A

Recurrent pyogenic infection and connective tissue disease

Recurrent infections due to Neisseria sp

20
Q

How do you Dx PI

A

Using a stepwise approach (4 stages)

21
Q

Stage 1 work up

A

Hx and PE
CBC + diff
Quantitative Immunoglobulin levels related to age (IgG, IgM, IgA)

22
Q

Stage 2 work up

A

Specific antibody responses (Tetanus, Diphtheria)
Response to pneumococcal vaccine (before and after) for children 3 y and older
IgG subclass analysis

23
Q

Stage 3 work up

A

Tetanus and candida skin tests
Lymphocyte surface markers CD3, CD4, CD8, CD19, CD16 , CD56
Mononuclear lymphocyte proliferation studies, using mitogen and antigen stimulation

24
Q

Stage 4 work up

A 
Complement screening: C3, C4, CH50
Enzyme measurements (adenosine deaminase, purine nucleoside phosphorylase)
Phagocyte studies (surface glycoproteins, mobility, phagocytosis)
Natural killer citotoxicity studies
Further complement studies AH50
Neoantigen to test antibody production
Other surface/cytoplasmic production
Cytokine receptor studies
Family/genetic studies
25
Q

CBC and/or quantitative Ig levels abnormal?

A

Repeat to make sure it was not a lab error, if it remains abnormal (stage 1) further testing indicated (going after stage 1) –> refer to Allergist or Immunologist, they need to evaluate for allergies in addition to immunodeficiencies

26
Q

Why is early Dx of PI critical?

A

To avoid chronic problems, LT adverse effects and severe morbidity (e.g. Bronchiectasis)
Because they can be candidates for bone marrow transplantation (BMT), the younger the better

27
Q

Tx PI

A

Immunoglobulin therapy: IV (clinic) or SQ (home)

BMT for severe cases

28
Q

SQ Immunoglobulin Tx advantages

A

Improved QOL, lower cost, lower systemic adverse effects

29
Q

SQ Immunoglobulin Tx disadvantages

A

More frequent treatments, local reaction at infusion site

30
Q

What are the considerations for transplantation?

A

Early intervention is preferable before chronic illness and disability sets in
For hematopoietic stem cell transp, matched-related donor is better than matched-unrelated (registry) donor
For some smaller Pts (<10 kg), cord blood stem cell Tx may be possible
You can find study protocols, including gene therapy in www.clinicaltrials.gov

31
Q

IV immunoglobulin therapy, standard protocol

A

For those with antibody deficiency
400-600 mg/kg infusion q 4 wk
Adjust doses and/or interval (poss to q 2-3 wk) depending on clinical response
Cons trough (pretreatment) level +300 mg/dl for those starting with a higher serum IgG level
Follow clinical response, not just the #s
Consider SQ Tx to eliminate trough levels

32
Q

btw… common causes of secondary immunodeficiency?

A

Viral infections, malignancy, malnutrition, drugs (CS, immunosuppresive therapy, etc)

Allergy/Immunology (4 decks)

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