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Questions and Answers
Which syndrome is characterized by a defect in moving material into lysosomes, resulting in giant granules?
A patient with a mutation in Bruton's tyrosine kinase (BTK) is likely to have which immunodeficiency disease?
Which syndrome is characterized by a combination of SCID, agranulocytosis, and sensorineural deafness?
Which immunodeficiency disease is caused by a mutation in CD40L or CD40, resulting in the inability to undergo class switching?
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Which syndrome is characterized by a partial or complete absence of the thymus?
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Which disease is caused by a mutation in part of NADPH oxidase, resulting in the inability to generate reactive oxygen species (ROS)?
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What is the primary function of the WASp protein involved in Wiskott-Aldrich syndrome?
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What is the characteristic laboratory finding in Hyper IgM syndrome?
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What is the primary symptom of DiGeorge syndrome?
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What is the typical presentation of Chediak-Higashi syndrome?
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What is the primary function of β2 integrin involved in Leukocyte adhesion deficiency?
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What is the most common primary immunodeficiency disease (PIDD) that is often asymptomatic?
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Study Notes
Immunodeficiency Disorders
- Wiskott-Aldrich syndrome: caused by a mutation in WASp, involved in actin polymerization and signaling, characterized by thrombocytopenia, eczema, and recurrent infections
- Chediak-Higashi syndrome: defect in moving materials into lysosomes, resulting in giant granules
SCID-like Presentation
- Reticular dysgenesis: a combination of SCID, agranulocytosis, and sensorineural deafness
T-Cell Deficiencies
- DiGeorge syndrome: characterized by partial or complete absence of the thymus
- MHCII deficiency (bare lymphocyte syndrome): inability of antigen-presenting cells (APCs) to present antigens
B-Cell Deficiencies
- Hyper IgE syndrome (Job's syndrome): characterized by high IgE levels, eosinophilia, and a STAT3 mutation
- Selective IgA deficiency: the most common primary immunodeficiency, but most individuals are asymptomatic
- Hyper IgM syndrome: caused by CD40L (X-linked) or CD40 (autosomal recessive) mutations, resulting in no class switching (IgA, IgE, and IgG)
- X-linked agammaglobulinemia: caused by a mutation in Bruton's tyrosine kinase (BTK)
- Combined variable immunodeficiency disease (CVID): the most common symptomatic antibody deficiency
Phagocytic Disorders
- Chronic granulomatous disease: caused by a mutation in NADPH oxidase, resulting in no reactive oxygen species (ROS) generated
- Leukocyte adhesion deficiency: caused by a mutation in β2 integrin, resulting in leukocytes' inability to move into tissues
Immunodeficiency Disorders
- Wiskott-Aldrich syndrome: caused by a mutation in WASp, involved in actin polymerization and signaling, characterized by thrombocytopenia, eczema, and recurrent infections
- Chediak-Higashi syndrome: defect in moving materials into lysosomes, resulting in giant granules
SCID-like Presentation
- Reticular dysgenesis: a combination of SCID, agranulocytosis, and sensorineural deafness
T-Cell Deficiencies
- DiGeorge syndrome: characterized by partial or complete absence of the thymus
- MHCII deficiency (bare lymphocyte syndrome): inability of antigen-presenting cells (APCs) to present antigens
B-Cell Deficiencies
- Hyper IgE syndrome (Job's syndrome): characterized by high IgE levels, eosinophilia, and a STAT3 mutation
- Selective IgA deficiency: the most common primary immunodeficiency, but most individuals are asymptomatic
- Hyper IgM syndrome: caused by CD40L (X-linked) or CD40 (autosomal recessive) mutations, resulting in no class switching (IgA, IgE, and IgG)
- X-linked agammaglobulinemia: caused by a mutation in Bruton's tyrosine kinase (BTK)
- Combined variable immunodeficiency disease (CVID): the most common symptomatic antibody deficiency
Phagocytic Disorders
- Chronic granulomatous disease: caused by a mutation in NADPH oxidase, resulting in no reactive oxygen species (ROS) generated
- Leukocyte adhesion deficiency: caused by a mutation in β2 integrin, resulting in leukocytes' inability to move into tissues
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Description
This quiz covers various immunodeficiency disorders, including Wiskott-Aldrich syndrome, Chediak-Higashi syndrome, SCID-like presentations, and T-cell deficiencies, such as DiGeorge syndrome. Learn about their causes, characteristics, and symptoms.
