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Primary Immunodeficiency Diseases

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Questions and Answers

What is the outcome of infants with Severe Combined Immunodeficiency Disorders without bone marrow or hematopoietic stem cell transplantation?

They usually survive longer than children with other immunodeficiency disorders
They have a high chance of successful treatment with gene therapy
They are asymptomatic until adulthood
Survival beyond the first year of life is rare (correct)

What is a characteristic of Combined Immunodeficiency Disorders?

Autosomal dominant pattern of inheritance
Impaired T-cell function and impaired antibody-forming (correct)
Normal T-cell function and impaired antibody-forming
Impaired T-cell function and normal antibody-forming

What is the most common outcome of children with Severe Combined Immunodeficiency Disorders who have experienced severe opportunistic infections?

They usually survive longer than children with other immunodeficiency disorders
The chances of successful treatment are low (correct)
They are asymptomatic until adulthood
They have a high chance of successful treatment with bone marrow transplantation

What is the inheritance pattern of Combined Immunodeficiency Disorders?

Autosomal (B) Signup and view all the answers

What are the symptoms of Combined Immunodeficiency Disorders?

Recurrent pulmonary infections, failure to thrive, oral and cutaneous candidiasis, chronic diarrhea, and recurrent skin infections (B) Signup and view all the answers

What is the treatment for Combined Immunodeficiency Disorders?

Supportive measures to prevent bacterial infections (B) Signup and view all the answers

What is the net result of a mutation in genes influencing lymphocyte development or response?

Disruption in the normal communication system between B and T lymphocytes (B) Signup and view all the answers

What is a characteristic of Severe Combined Immunodeficiency Disorders?

Absence of all T- and B-cell function (A) Signup and view all the answers

What is a symptom of Severe Combined Immunodeficiency Disorders in infants?

Chronic diarrhea (B) Signup and view all the answers

What is the mode of inheritance of Severe Combined Immunodeficiency Disorders?

X-linked and autosomal recessive (C) Signup and view all the answers

What is a characteristic of the disease course of Severe Combined Immunodeficiency Disorders in infants?

It resembles AIDS (B) Signup and view all the answers

What is a potential consequence of Severe Combined Immunodeficiency Disorders?

Fatal outcome (B) Signup and view all the answers

What is the primary function of T-cells in the immune system?

Coordinating the overall immune response (A) Signup and view all the answers

What is the typical outcome for patients with Primary Cell-Mediated Immunodeficiencies if left untreated?

Low survival beyond infancy or childhood (B) Signup and view all the answers

What is the characteristic feature of X-Linked Immunodeficiency With Hyper-IgM?

Low IgG and IgA levels with normal or high IgM concentrations (C) Signup and view all the answers

What is the genetic defect associated with DiGeorge Syndrome?

DNA microdeletion on chromosome 22 (B) Signup and view all the answers

What is the typical age of onset for symptoms in X-Linked Immunodeficiency With Hyper-IgM?

During the first and second years of life (C) Signup and view all the answers

What is the goal of gene replacement therapy for Cell-Mediated Immunodeficiencies?

To restore T-cell function (A) Signup and view all the answers

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