Immunology Flashcards
What is Kawasaki disease and what patient population is affected?
Multi-system vasculitis that affects Asian heritage children < 5 years old
What is the pneumonic to remember the signs of Kawasaki disease?
CRASH and Burn
Symptoms of Kawasaki Disease?
CRASH and Burn
- Conjunctivitis
- Rash
- Adenopathy (unilateral)
- Strawberry tongue
- Hands/feet are red/swollen/flaking
- Fever for > 5 days
Symptoms of Kawasaki Disease?
CRASH and Burn
- Conjunctivitis
- Rash
- Adenopathy (unilateral)
- Strawberry tongue
- Hands/feet are red/swollen/flaking
- Fever for > 5 days
What are children with Kawasaki disease at risk for?
Coronary A. Aneurysm/MI
What 2 changes may be seen on labs with Kawasaki disease?
Elevated ESR and platelet count
What 2 things are used in the treatment for Kawasaki disease?
Aspirin
IVIG – prevents Coronary A. Aneurysm
Aspirin is part of the treatment for Kawasaki disease, although it is rarely given to children. Why?
Reye Syndrome
What is Reye syndrome?
Aspirin in children
–> Mitochondrial injury and liver failure
–> Hyperammonemia and Encephalopathy
What immunologic change is present with Bruton X-linked Agammaglobulinemia?
Low levels of B cells and immunoglobulins
When will CVID present in life? What defect is present?
Presents later in life > 15 years of age
– Combined B and T cell defect to cause low Ig levels
IgA deficiency often presents how? Why?
Anaphylactic reaction upon administration of transfusion because of the patient’s Anti-IgA antibodies!
What causes Hyper-IgM syndrome?
Absent CD40 ligand = NO class switching for the B cells
If a person is missing a CD40 ligand, what syndrome will they have?
Hyper-IgM
How is DiGeorge Syndrome inherited?
Autosomal Dominant
What is the pneumonic to remember the signs of DiGeorge Syndrome?
CATCH 22
Symptoms of DiGeorge syndrome?
CATCH 22
- Cardiac anomalies
- Abnormal facies
- Thymic aplasia
- Cleft palate
- Hypocalcemia
- Deletion of 22q11
What immunologic change will be present with DiGeorge syndrome and why?
Low T cells because of the thymic aplasia
Since DiGeorge syndrome has low levels of T cells, what types of infections are they more at risk for?
Viruses
Fungi
Pneumocystis Jirovecii
What mutation causes Ataxia-Telangiectasia?
Mutation in a gene responsible for repair of dsDNA breaks
If a person cannot repair dsDNA breaks, what symptoms will they have?
Cerebellar ataxia
Oculocutaneous telangiectasias
How is SCID inherited?
X-linked recessive – boys only
What defects cause SCID?
Stem cell maturation defect and low levels of Adenosine Deaminase
What immunologic change is present with SCID?
LOW levels of B AND T cells
How is Wiskott - Aldrich inherited?
X-linked recessive
What immunologic changes are present with Wiskott-Aldrich?
Low levels of platelets and IgM
What pneumonic is used with Wiskott-Aldrich?
WIPE
Signs of Wiskott-Aldrich?
WIPE
- Wiskott-Aldrich
- Infections
- Purpura/bleeding
- Eczema
What is deficient with Chronic Granulomatous Disease (CGD)?
Deficient Superoxide (NADPH) production
What 2 tests are used to diagnose Chronic Granulomatous Disease?
Dihydrorhodamine test
Nitroblue Tetrazolium test
What are the 2 main signs of Leukocyte Adhesion Deficiency?
Absent pus
Omphalitis = delayed separation of the umbilical cord
What are the signs of Chediak-Higashi?
Albinism
Peripheral neuropathy
Neutropenia
If a child is albino, has peripheral neuropathy and recurrent infections, what do they have?
Chediak-Higashi
Those with Chediak-Higashi are at risk for what types of infections?
Pyogenic bacteria – staph aureus/s. pyogenes
What will be seen in the neutrophils with Chediak-Higashi?
Giant granules
What pneumonic is used to remember Job syndrome?
FATED
Signs of Job syndrome?
FATED
- Facies are coarse
- Abscesses
- Teeth are retained
- Elevated IgE/Eosinophilia
- Dermatologic conditions
Signs of Job Syndrome?
FATED
- Facies are coarse
- Abscesses
- Teeth are retained
- Elevated IgE
- Dermatologic conditions
How is Hereditary Angioedema inherited?
Autosomal Dominant
What is deficient with Hereditary Angioedema?
C1 Esterase Inhibitor is deficient
What is the treatment for Hereditary Angioedema?
C1 inhibitor
What is the patient unable to form with Terminal Complement Deficiency (C5-C9)?
Membrane Attack Complex (MAC)
What are those with a Terminal Complement Deficiency at an increased risk for?
Neisseria infections
What are those with a Terminal Complement Deficiency at an increased risk for?
Neisseria infections
Many of the immunologic disorders are treated with what 2 things?
Prophylactic antibiotics + IVIG
What 2 medications should be given for Chronic Granulomatous Disease prophylaxis?
TMP-SMX
Itraconazole
