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Day 2

x-linked, b cell deficiency (defective tyrosine kinase gene), recurrent bacterial infections after 6 mos bruton's aggamaglobulinemia
3rd and 4th pouches fail to develop--> no thymus-->no t cells; congenital defects in heart/great vessels thymic aplasia (diGeorge)
recurrent viral, fungal, and protozoal infections with 22q11 deletion thymic aplasia (diGeorge)
no thymic shadow on CXR (2 diseases) thymic aplasia (diGeorge) and SCID (severe combined immunodeficiency)
adenosine deaminiase deficiency causing defect in early stem cell differentiation SCID
no b cells or t cells so only defense is NK cells SCID
triad: 1. severe recurrent infections with chronic mucocutaneous candidiasis; fatal or recurrent RSV,VZV, HSV, measles, flu, parainfluenza; PCP pneumonia 2. chronic diarrhea 3. failure to thrive SCID
pneumocystis jiroveci in a young child SCID
what drug is used to treat chronic mucocutaneous candidiasis? ketoconazole
What is the WAITER of Wiskott-Aldrich? WA=Wiskott Aldrich I= Immunodeficiency (decreased IgM) T= Thrombocytopenia and purpura E= Eczema R= Recurrent pyogenic infections (no IgM to fight capsular polysaccarides of bacteria, low IgM and high IgA, X-linked)
truncal eczema in a child Wiskott-Aldrich
IgA deficiency, cerebellar ataxia, elevated AFP in a 1 year old, and poor smooth pursuit of moving target with eyes ataxia-telangiectasia (also see telangiectasias on face, obviously)
ataxia-telangiectasia carries an increased risk of developing which malignancies? lymphoma and acute leukemias (ALL, AML)
most common selective immunoglobulin deficiency that presents with sinus and lung infections in otherwise healthy person IgA deficiency (may also have atopy, asthma)
why is it important to diagnose IgA deficiency in a person who is otherwise healthy? danger of anaphylaxis to blood transfusions and blood products
IL-12 receptor deficiency predisposes to what type of infections? mycobaterial infections
delayed separation of umbilical cord leukocyte adhesion deficiency
abnormal integrins so phagocytes can't exit circulation leukocyte adhesion deficiency
hyperimmunoglobulin E syndrome is also known as ________ syndrome job syndrome
triad: eczema, recurrent cold staph aureus abscesses, hgih levels of IgE and eosinophils job syndrome/hyperimmunoglobulin E syndrome
defective LYST gene chediak-higashi disease
giant cytoplasmic granules in PMNs caused by defective phagocyte lysosome Chediak-Higashi disease
triad: partial albinism, recurrent respiratory tract and skin infections), and neuro disorders Chediak-Higashi disease
coarse facial features, doughy skin, and 2 rows of teeth (retain primary teeth) Job syndrome
lack of NADPH oxidase activity Chronic granulomatous disease
susceptible to catalase + organisms like staph aureus, e coli, klebsiella, aspergillus, and candida Chronic Granulomatous Disease
Negative nitroblue tetrazolium test Chronic Granulomatous Disease
Tx options for Chronic Granulomatous Disease Prophylactic TMP-SMX; also INF-gamma
Normal number of B cells, but decreased plasma cells and immunoglobulin b/c there is a defect in B cell maturation Common variable immunodeficiency (CVID)
Increased risk of autoimmune disease, lymphoma, and sinopulmonary infections that are typically acquired in the 20s and 30s Common variable immunodeficiency (CVID)
Created by: sarah3148



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