Ataxia telangiectasia - Study guides, Class notes & Summaries
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ABGC Practice Quiz Questions and Answers
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A woman is seen for genetic counseling because her three year old son was recently 
diagnosed with Duchene's Muscular Dystrophy. She is feeling very guilty about the 
diagnosis and the fact that she passed along this disease to her son. Her son's physician 
has referred her to see a cardiologist on numerous occasions but she has not kept the 
scheduled appointments. What is the best approach to take with this patient to 
encourage her to see a cardiologist? 
A) Tell her that she is being ...
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ABGC Practice Questions and Answers
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ABGC Practice Questions and Answers 
A woman is seen for genetic counseling because her three year old son was recently 
diagnosed with Duchene's Muscular Dystrophy. She is feeling very guilty about the 
diagnosis and the fact that she passed along this disease to her son. Her son's 
physician has referred her to see a cardiologist on numerous occasions but she has not 
kept the scheduled appointments. What is the best approach to take with this patient to 
encourage her to see a cardiolo...
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USMLE Step 1 - uWorld High Yield Notes New Update 2023 Graded A+
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USMLE Step 1 - uWorld High Yield Notes 
New Update 2023 Graded A+ 
What are the two major microtubular motor proteins? Which does anterograde axonal 
transport, which does retrograde axonal transport? - CORRECT ANSWER Kinesin, 
Dynein 
Kinesin: Anterograde 
Dynein: Retrograde` 
What do you think, immunologically speaking, when you see someone with recurrent 
Neisseria infections? - CORRECT ANSWER Inability to form the membrane attack 
(MAC) complex 
this is a common complement deficiency 
Wh...
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UAMS Immunology Exam 4 Questions & Answers 2024/2025
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UAMS Immunology Exam 4 Questions & Answers 2024/2025 
 
 
transient hypogammaglobulinemia of infancy 
X linked Bruton's agammaglobulinemia 
IgA deficiency 
common variable immunodeficiency (CVI) - ANSWERSlist the primary deficiencies of the B cell system. 
 
DiGeorge anomaly 
purine-nucleoside phosphorylase (PNP) deficiency - ANSWERSlist the cellular immunity deficiencies. 
 
severe combined immunodeficiency (SCID) 
wiskott-aldrich syndrome (WAS) 
ataxia-telangiectasia (AT) - ANSWERSlist the co...
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Unit 8 – Immunodeficiencies Questions & Answers
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Unit 8 – Immunodeficiencies Questions & Answers 
What type of immunodeficiencies disorders are these?: 
- DiGeorge syndrome 
- Severe combined immune deficiency 
- Chronic mucocutaneous candidiasis - ANS-Cellular immunodeficiencies 
What type of immunodeficiencies disorders are these?: 
- Ataxia-telangiectasia 
- Wiskott-Aldrich syndrome - ANS-T-cell immunodeficiencies 
What type of immunodeficiencies disorders are these?: 
- Bruton x-linked agammaglobulinemia 
- Common variable immunodeficien...
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CBSE High Yielding/Mnemonics/Cases with Detailed Answers for Exam Review
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Cerebellar ataxia, telangiectasias, and increased risk of sinopulmonary infections = triad of _________. 
-This is due to a defect in the ________gene responsible for ____________. 
-immune deficiency manifests as _______ - ***ataxia telangiectasia 
ATM gene responsible for DNA break repair 
IgA deficiency 
Pt presents with unsteady gait, spider like capillary angiomas on the skin, and recent pulmonary 
infections...Dx= - ***Ataxia Telangiectasia 
Pt presents with Thrombocytopenia, Eczema, an...
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Unit 8 – Immunodeficiencies Questions & Answers
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Unit 8 – Immunodeficiencies Questions & Answers 
What type of immunodeficiencies disorders are these?: 
- DiGeorge syndrome 
- Severe combined immune deficiency 
- Chronic mucocutaneous candidiasis - ANS-Cellular immunodeficiencies 
What type of immunodeficiencies disorders are these?: 
- Ataxia-telangiectasia 
- Wiskott-Aldrich syndrome - ANS-T-cell immunodeficiencies 
What type of immunodeficiencies disorders are these?: 
- Bruton x-linked agammaglobulinemia 
- Common variable immunodeficien...
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USMLE Step 1 - uWorld High Yield Notes Question already solved 2023
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USMLE Step 1 - uWorld High Yield Notes Question already solved 2023What are the two major microtubular motor proteins? Which does anterograde axonal transport, which does retrograde axonal transport? 
Kinesin, Dynein 
 
Kinesin: Anterograde 
Dynein: Retrograde` 
 
 
 
What do you think, immunologically speaking, when you see someone with recurrent Neisseria infections? 
Inability to form the membrane attack (MAC) complex 
this is a common complement deficiency 
 
 
 
What is the defect in Chroni...
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USMLE Step 1 - uWorld High Yield Notes Exam 2023 | Questions and Answers
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USMLE Step 1 - uWorld High Yield Notes Exam 2023 | Questions and Answers 
What are the two major microtubular motor proteins? Which does anterograde axonal 
transport, which does retrograde axonal transport? ------Correct Answer-------Kinesin, 
Dynein 
Kinesin: Anterograde 
Dynein: Retrograde` 
What do you think, immunologically speaking, when you see someone with recurrent 
Neisseria infections? ------Correct Answer-------Inability to form the membrane attack 
(MAC) complex 
this is a common co...
-
CBSE High Yield/Mnemonics/Cases Exam Questions with Correct Answers
- Exam (elaborations) • 9 pages • 2023
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-Cerebellar ataxia, telangiectasias, and increased risk of sinopulmonary infections = triad of _________. 
-this is due to a defect in the ________gene responsible for ____________. 
-immune deficiency manifests as _______ correct answer ataxia telangiectasia 
 
Atm gene responsible for dna break repair 
 
Iga deficiency 
 
Pt presents with unsteady gait, spider like capillary angiomas on the skin, and recent pulmonary infections...dx= correct answer ataxia telangiectasia 
 
Pt presents with t...
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