Immunology Flashcards
Recurrent viral, fungal and protozoal infections
Hypocalcemia and Tetany
DiGeorge Syndrome
Thymic Aplaisa
Failure of the 3rd and 4th pharyngeal pouches to develop
Congenital heart defects associated with DiGeorge Syndrome?
Tetrology of Fallot
Truncus Arteriosis
Chromosomal abnormality associated with 90% of DiGeorge Syndrome
22q11 Deletion
*Detect with FISH
Recurrent Bacteria
Low levels of all immunoglobulins
Bruton’s agammablobulinemia
Defect in Bruton’s agammaglobulinemia
Defect in BTK
Tyrosine kinase gene
No B-cell maturation
X-linked recessive = increased in BOYS
**Disease of “B”s
Reccurent Sinus and lung infections
Anaphalaxis following blood transfusion
Selective IgA deficiency
Failure to thrive
Chronic Diarrhea
Thrush
Recurrent viral, bacterial, fungal, protozoal infections
SCID
Adenosine Deaminase Deficiency
2 immunodeficiencies with absence of thymic shadow?
DiGeorge
SCID
Poor smooth pursuit
Ataxia
Telangiectasia of face
Increased AFP (after 8 months of age)
Ataxia-telangiectasia
Why should pts w/ ataxia-telangiectasia avoid x-rays?
Defect is in ATM gene = failure to repair DNA double strand breaks and cell cycle arrest
Pneumonic for ATAXIA- Telangectasia
ATAXIA
Ataxia Telangectasia Acute leukemia/lymphoma increased risk X-ray sensitivity IgA deficiency AFP increased
Thrombocytopenia and purpura
Eczema
Recurrent Pyogenic Infections
Wiskott-Aldrich Syndrome
WATER= Wiskott Aldrich Thrombocytopenia purpura Eczema Recurrent Pyogenic Infections
Defect in Wiskott-Aldrich Syndrome?
Defect in WAS gene
T-cells unable to reorganize actin cytoskeleton
**X-linked recessive, more common in boys
Defect in Hyper IgM syndrome
Defective CD40L on Th cells
Can’t class switch
High IgM
Low IgG, IgA, IgE
X-linked recessive
Delayed separation of umbilical cord
Impaired wound healing
Absent pus formation
Neutrophilia
Leukocyte Adhesion Deficiency
Defect in LFA-1 integrin = CD18
*impaired migration and chemotaxis
Increased susceptibility to catalase + organisms?
Chronic Granulomatous Disease
Defect in NADPH oxidase
Can’t convert O2 to superoxide dismutase for respiratory burst in neutrophils/phagocytes
Chronic Granulomatous Disease especially susceptible to….
Staph Aureus
Aspergillus
Pseudomonas
Negative Nitroblue Tetrazolium test
Chronic Granulomatous Disease
Normally (+) would oxidize the dye to blue/black pigment… but can’t oxidize it because they can’t generate oxygen free radicals
Treatment for chronic granulomatous disease
Prophylactic TMP-SMX and itraconazole
IFN-gamma
Partial Albinism
Recurrent respiratory and skin infections
Neurologic Disorders
Chediak-Higashi Syndrome
Defect in Chediak-Higashi
Defective LYST gene (lysosomal transport)
Defective phagocyte lysosomes = giant cytoplasmic granules in PMNs are diagnostic
Eczema Recurrent cold abscesses (S. Aureus) Coarse facial features Retained primary teeth High IgE
Job Syndrome = Hyper IgE syndrome
Defect in STAT3 - impaired recruitment of neutrophils to sites of infections (why abscesses are cold, no inflammation)
Large phagosomal vesicles in neutrophils
Chediak Higashi
Transplant rejection in minutes due to preformed Abs
Hyperacute rejection
