Immunodeficiency

Q: When T cell immunodeficiency and hypocalcemia dominate in 22q11.2 deletion, the patient is said to have

Velocardiofacial syndrome. When T cell immunodeficiency and hypocalcemia are dominant features, patients are said to have DiGeorge syndrome, while velocardiofacial syndrome has pronounced dysmorphology and cardiac defects. ---

Q: A lack of NADPH oxidase results in which primary immunodeficiency characterized by inability to kill phagocytosed microbes?

Chronic Granulomatous Disease. CGD is caused by defects in the oxidative burst mechanism within phagocytes.

| Immune deficiency | HIV, hypogammaglobulinaemia (common variable immunodeficiency) |

What our notes say

| Immune deficiency | HIV, hypogammaglobulinaemia (common variable immunodeficiency) | (Bronchiectasis)
No contraindications: breastfeeding, immunodeficiency, peptic ulcer, active lung disease, kidney or liver impairment, a viable intrauterine pregnancy, methotrexate allergy (Ectopic pregnancy)
The parathyroids may be absent in this condition, which can lead to hypoparathyroidism and hypocalcemia, as well as immunodeficiency from diminished cell mediated immunity as a consequence of thymic dysfunction. (Chemical pathology and Endocrine pathology — Past Paper Questions & Answers)
The decreased serum immunoglobulins at his age suggest common variable immunodeficiency, which puts him at risk for bacterial infections. (Immunopathology complete mcqs — Past Paper Questions & Answers)
Human immunodeficiency virus crosses the muoosa of the vagina into the extracellular matrix. (Immunopathology complete mcqs — Past Paper Questions & Answers)
List secondary causes of immunodeficiency and explain how they cause the same. (10 Marks) (Medical MCQs: Chemical Pathology & Haematology Exam Review)

Study material on Immunodeficiency

Practice questions on Immunodeficiency

When T cell immunodeficiency and hypocalcemia dominate in 22q11.2 deletion, the patient is said to have

Velocardiofacial syndrome
DiGeorge syndrome
Down syndrome
Turner syndrome
Occurs only after chronic exposure

Answer: A. When T cell immunodeficiency and hypocalcemia are dominant features, patients are said to have DiGeorge syndrome, while velocardiofacial syndrome has pronounced dysmorphology and cardiac defects. ---

A lack of NADPH oxidase results in which primary immunodeficiency characterized by inability to kill phagocytosed microbes?

SCID
DiGeorge Syndrome
Chronic Granulomatous Disease
X-linked Agammaglobulinemia

Answer: C. CGD is caused by defects in the oxidative burst mechanism within phagocytes.