Severe Combined Immunodeficiency (SCID): Symptoms and Treatment

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Questions and Answers

What is the most common clinical feature associated with IgA deficiency?

  • Recurrent cellulitis
  • Recurrent otitis media (correct)
  • Chronic sinus congestion
  • Chronic diarrhea

Which of the following autoimmune diseases is more commonly seen in individuals with IgA deficiency?

  • Graves' disease
  • Rheumatoid arthritis (correct)
  • Multiple sclerosis
  • Type 1 diabetes

What potentially deadly complication can occur post-blood transfusion in individuals with IgA deficiency?

  • Sepsis
  • Acute kidney injury
  • Severe anemia
  • Life-threatening anaphylaxis (correct)

Which immunoglobulin is typically deficient in patients with Hyper-IgM syndrome?

<p>IgG (D)</p> Signup and view all the answers

What genetic inheritance pattern is associated with Hyper-IgM syndrome due to a CD40L deficit or lack of function?

<p>X-linked recessive (B)</p> Signup and view all the answers

What is the most common deficiency in complement defects?

<p>C2 deficiency (A)</p> Signup and view all the answers

Which cytokine receptors are affected in X-linked SCID due to mutation in the gamma-chain?

<p>IL-2 and IL-7 (C)</p> Signup and view all the answers

What is the consequence of adenosine deaminase mutation in autosomal recessive SCID?

<p>Accumulation of deoxyadenosine, toxic to rapidly dividing lymphocytes (B)</p> Signup and view all the answers

What pathology is commonly seen in SCID patients?

<p>Depletion of T-cell areas in lymphatic tissues (B)</p> Signup and view all the answers

What condition may occur in SCID if the mother's T-cells are transferred across the placenta?

<p>Graft-versus-host disease (A)</p> Signup and view all the answers

Which virulence factor produced by Staphylococcus aureus disrupts the membranes of a large number of cell types?

<p>Leukocydin (B)</p> Signup and view all the answers

What is the primary function of Epidermal Cell Differentiation Inhibitors produced by Staphylococcus aureus?

<p>Produces holes in blood vessel linings (C)</p> Signup and view all the answers

Which type of toxins from Staphylococcus aureus is also known as Toxic Shock Syndrome Toxin?

<p>Exfoliative toxins (C)</p> Signup and view all the answers

What type of immunodeficiency is primarily genetic and often detected in infancy or childhood?

<p>Primary Immunodeficiencies (D)</p> Signup and view all the answers

Immunodeficiencies that are acquired due to external factors like infection or chemotherapy are classified as:

<p>Secondary Immunodeficiencies (B)</p> Signup and view all the answers

Which of the following statements about X-linked agammaglobulinemia (Bruton's agammaglobulinemia) is correct?

<p>It is caused by a defect in the ability of Pro-B cells to differentiate into Pre-B cells due to the lack of a tyrosine kinase that initiates recombination and antibody formation. (B)</p> Signup and view all the answers

Which of the following statements about common variable immunodeficiency (CVID) is incorrect?

<p>It is a single, well-defined disease with a known genetic cause. (D)</p> Signup and view all the answers

What is the approximate prevalence of isolated IgA deficiency in the population?

<p>1 in 600 (D)</p> Signup and view all the answers

Which of the following primary immunodeficiencies is the most common among B-cell deficiencies?

<p>Isolated IgA deficiency (A)</p> Signup and view all the answers

Which of the following is the most appropriate treatment for X-linked agammaglobulinemia (Bruton's agammaglobulinemia)?

<p>Intravenous immunoglobulin (IVIG) therapy (D)</p> Signup and view all the answers

What molecule is considered most important in the pathogenesis of hereditary angioedema?

<p>Bradykinin (B)</p> Signup and view all the answers

Which of the following is NOT a clinical feature of hereditary angioedema?

<p>Myocardial infarction (B)</p> Signup and view all the answers

What is the mechanism behind the increased risk of infections with prolonged systemic glucocorticoid use?

<p>Suppression of the immune system (B)</p> Signup and view all the answers

Which of the following is the most accurate statement regarding the prevalence of hereditary angioedema?

<p>It is a relatively uncommon disorder, affecting around 1 in 50,000 individuals. (B)</p> Signup and view all the answers

Which of the following statements about the treatment and prognosis of hereditary angioedema is correct?

<p>Treatment with C1 inhibitor from blood products has greatly improved the prognosis, with mortality rates now less than 5%. (C)</p> Signup and view all the answers

What is the relative risk of bacterial infections in IBD patients on corticosteroids alone?

<p>5-fold higher (B)</p> Signup and view all the answers

Which infection has a 4-fold higher relative risk in IBD patients on corticosteroids alone?

<p>Tuberculosis (C)</p> Signup and view all the answers

What is the specific infection mentioned in relation to Pneumocystis jiroveci pneumonia?

<p>Fungal infection of the lung (D)</p> Signup and view all the answers

Which infection can persist for several decades and reactivate with glucocorticoid exposure?

<p>Strongyloidiasis (C)</p> Signup and view all the answers

What is the recommended treatment for Strongyloidiasis?

<p>Antiparasitic medication (C)</p> Signup and view all the answers

Which virus causes Herpes Zoster (Shingles)?

<p>Varicella zoster virus (C)</p> Signup and view all the answers

What infection should be tested for before initiating glucocorticoid treatment?

<p>Tuberculosis (C)</p> Signup and view all the answers

Which type of infection can be acquired through direct contact with contaminated soil?

<p>Parasitic infection (A)</p> Signup and view all the answers

Which opportunistic infections are mentioned in the text?

<p>Aspergillosis, Tuberculosis, Candidiasis, Cryptococcosis (D)</p> Signup and view all the answers

What type of prophylactic or treatment approach is recommended for Pneumocystis jiroveci pneumonia?

<p>Antibiotics (B)</p> Signup and view all the answers

In patients with X-linked hyper-IgM syndrome, which of the following is a characteristic finding?

<p>Increased susceptibility to pyogenic infections and viral infections (B)</p> Signup and view all the answers

In 22q11 deletion (DiGeorge) syndrome, which of the following is the most likely underlying cause?

<p>Deficiency in the T-box family of transcription factors important for branchial/pharyngeal arch development (D)</p> Signup and view all the answers

Which of the following clinical features is NOT associated with 22q11 deletion (DiGeorge) syndrome?

<p>Elevated levels of parathyroid hormone and hypercalcemia (A)</p> Signup and view all the answers

What is the estimated prevalence of X-linked hyper-IgM syndrome?

<p>1 in 1,000,000 live births (A)</p> Signup and view all the answers

Which of the following electrolyte abnormalities would be associated with hypoparathyroidism, a feature of 22q11 deletion (DiGeorge) syndrome?

<p>Hypocalcemia (D)</p> Signup and view all the answers

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