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CATCH 22 mnemonic is for ______
DiGeorge syndrome
What cardiac abnormality is associated with DiGeorge syndrome?
VSD & Tetralogy of Fallot
Major risk factor for Ataxia- Telangiectasia
Lymphomas & Leukemias
Bruton's agammaglobulinemia
X-linked agammaglobulinemia
What is the cause of Hyper-IgM syndrome?
CD40L defect
HIV is acquired through ______ transmission
Vertical
What type of hypersensitivity rxn:
Anaphylactic
Type 1
What type of hypersensitivity rxn:
Tuberculin (PPD) reaction or contact dermatitis
Type 4
Common causes of anaphylaxis/anaphylactoid reactions
Antibiotics (PCN), Foods (peanuts, shellfish, eggs), Anesthetic agents, Insect stings (bees)
Oral allergy syndrome does NOT occur with _______
Cooked food
4 common classifications of immunodeficiencies
Cellular and humoral immunodeficiency
Combined immunodeficiencies w/ syndromic features
Antibody deficiencies
Complement deficiencies
DiGeorge syndrome is a (B/T) cell deficiency
T
CATCH 22 pneumonic for DiGeorge syndrome
Cardiac
Abnormal facies
Thymic hypoplasia
Cleft lip/palate
Hypocalcemia
Chromosome 22
Characterized by defects in T and B cells and weak NK cells
SCID
Bacterial causes of B cell deficiency
S. pneumo, H. influenza, S. aureus
Viral causes of B cell deficiency
Enterovirus
Protozoal causes of B cell deficiency
Giardia
Mutation of Bruton Tyrosine Kinase (BTK) gene on X chromosome, leading to arrest of B cells and failure to generate plasma cells
X-linked agammaglobulinemia
Primary immunodeficiency disorder characterized by impaired B cell differentiation and defective Ig production
Common variable immunodeficiency (CVID)
Reduced or absent IgG, IgM, and/or IgA & poor or absent response to immunizations
CVID
Which Igs are reduced in CVID?
IgG, IgM, and/or IgA
What disease may have noncaseating granulomas & splenomegaly?
CVID
GI symptoms associated with CVID
Recurrent diarrhea, malabsorption, weight loss
Pulmonary symptoms associated with CVID
Recurrent sinopulmonary infections
X-linked condition characterized by normal/increased levels of serum IgM associated with deficiencies in IgG, IgA, IgE, and poor antibody function
Hyper-IgM syndrome
Which Igs are reduced in Hyper-IgM syndrome?
IgG, IgA, IgE
What is the curative tx for Hyper-IgM syndrome?
Bone marrow transplant
What B cell defect has NO mature B cells, antibodies, or antibody response present?
X-linked agammaglobulinemia
What B cell defect DOES have mature B cells, low Abs, and antibody response present?
Transient hypogammaglobulinemia
Which B cell defects are treated with IVIG/SQIG? (4)
X-linked agammaglobulinemia, CVID, IgG deficiency, Specific antibody deficiency
Tx for transient hypogammaglobulinemia
Observation, prophylactic abx
Recurrent bacterial infections and persistent neutrophilia
A) LAD1
B) LAD2
C) LAD3
A) LAD1
Hallmark finding is absent pus formation
A) LAD1
B) LAD2
C) LAD3
A) LAD1
Impaired wound healing
A) LAD1
B) LAD2
C) LAD3
A) LAD1
Severe intellectual disabilities and short stature
A) LAD1
B) LAD2
C) LAD3
B) LAD2
Distinct facial appearance (depressed nasal bridge)
A) LAD1
B) LAD2
C) LAD3
B) LAD2
LAD1 + bleeding
A) LAD2
B) LAD3
B) LAD3
AKA Hyper IgE syndrome
Job syndrome
Rare syndrome characterized by recurrent skin and pulmonary infections + eczema
Job syndrome
Defects in the enzyme NADPH oxidase, leading to inability to generate microbicidal "respiratory burst"
Chronic granulomatous disease
Diagnostic testing for chronic granulomatous disease
Dihydrohodamine oxidation test with flow cytometry
What disease is diagnosed with dihydrohodamine oxidation test w/ flow cytometry?
Chronic granulomatous disease
Children born with HIV can receive ALL vaccines except _______
Live virus vaccines
What type of hypersensitivity rxn:
Mediated by specific IgE antibody
Type 1
What type of hypersensitivity rxn:
Allergic rhinitis, urticaria, food allergies
Type 1
What type of hypersensitivity rxn:
Antibody-mediated cell destruction
Type 2
What type of hypersensitivity rxn:
Antigen-antibody complexes form and are deposited in the lining of blood vessels, stimulating tissue inflammation
Type 3
What type of hypersensitivity rxn:
Arthus reaction, serum sickness, vasculitis
Type 3
What type of hypersensitivity rxn:
Previously sensitized T cells interact with antigen, leading to tissue inflammation
Type 4
What is the most common type of anaphylaxis/anaphylactoid reaction?
Cutaneous
Tx for anaphylaxis/anaphylactoid reactions
Epi!!!
IgE mediated
A) Anaphylactoid reaction
B) Anaphylaxis
B) Anaphylaxis
NOT IgE mediated, results from mast cell degeneration
A) Anaphylactoid reaction
B) Anaphylaxis
A) Anaphylactoid reaction
Itch --> scratch --> rash
Atopic dermatitis
Food intolerance or allergy:
Abnormal physiologic response to ingested food, NOT immunologic
Intolerance
Food intolerance or allergy:
Immunologic reaction that occurs with ingesting food
Allergy
Oral allergy syndrome, anaphylaxis, urticaria, angiodema
A) Mixed IgE mediated food allergy
B) IgE mediated food allergy
C) Non-IgE mediated food allergy
B) IgE mediated food allergy
Atopic dermatitis & Eosinophilic esophagitis
A) Mixed IgE mediated food allergy
B) IgE mediated food allergy
C) Non-IgE mediated food allergy
A) Mixed IgE mediated food allergy
Food protein induced proctocolitis/enterocolitis
A) Mixed IgE mediated food allergy
B) IgE mediated food allergy
C) Non-IgE mediated food allergy
C) Non-IgE mediated food allergy
Common food allergens in children
Peanuts, milk, egg, soy, wheat, fish
High allergy foods may be introduced between ages _______, regardless of allergy risk
4-11 months
