Primary Immunodeficiencies: Diagnosis and Management

What is the primary consequence of an immunodeficiency?

Cancer
Infection (correct)
Chronic inflammation
Autoimmune disease

What is the estimated prevalence of IgA deficiency in the U.S.?

1 in 100 people
1 in 300 - 500 people (correct)
1 in 1000 people
1 in 5000 people

Which of the following is a characteristic of primary immunodeficiencies?

Can only present in childhood
Always genetic or inherited (correct)
Usually caused by medication
Acquired through infection or malnutrition

What is the primary distinction between primary and secondary immunodeficiencies?

Primary immunodeficiencies are the primary problem, whereas secondary immunodeficiencies are caused by an underlying condition (A) Signup and view all the answers

At what age can primary immunodeficiencies present?

At any age (A) Signup and view all the answers

What is the estimated prevalence of non-IgA deficiency primary immunodeficiencies in live births?

1 in 1200 live births (B) Signup and view all the answers

What is the hallmark of Primary Immunodeficiency Disease (PID)?

Increased susceptibility to infection (C) Signup and view all the answers

What is the characteristic of the blood vessels in Ataxia-Telangiectasia?

Small and dilated (D) Signup and view all the answers

What is the typical presentation of infections in patients with Primary Immunodeficiency Disease (PID)?

Chronic or recurrent 'routine' infections (A) Signup and view all the answers

What is a common feature of DiGeorge Syndrome?

Abnormal facies (D) Signup and view all the answers

What is a possible indication of a mechanical issue in a patient with recurrent infections?

Recurrent infections in the same location (D) Signup and view all the answers

What is a characteristic of Wiskott-Aldrich Syndrome?

Variable B- and T- cell dysfunction (C) Signup and view all the answers

What is the characteristic of Severe Combined Immunodeficiency (SCID)?

Virtually no T cells or immune function (C) Signup and view all the answers

What is the treatment for Severe Combined Immunodeficiency (SCID)?

Bone marrow transplant (D) Signup and view all the answers

What type of disorders are characterized by the presence or absence of T-cells?

T-cell and Combined Defects (C) Signup and view all the answers

What is the name of the syndrome that is caused by a defect in the C3 protein?

S.pneumonia H (A) Signup and view all the answers

What is the age of presentation for Severe Combined Immunodeficiency (SCID)?

Within the first year of life (B) Signup and view all the answers

What is the most common phagocytic disorder?

Chronic granulomatous disease (B) Signup and view all the answers

Which laboratory test is used to diagnose complement deficiency?

CH50 Assay (A) Signup and view all the answers

What is the most common type of cancer in patients with PID?

Non-Hodgkin lymphoma (B) Signup and view all the answers

What is a common symptom of chronic granulomatous disease?

Painful sores around the mouth (D) Signup and view all the answers

What is the estimated cancer risk for PID patients?

4-25% (A) Signup and view all the answers

Which of the following is used to evaluate suspected T-cell disorders?

Lymphocyte subset analysis (B) Signup and view all the answers

What is the origin of Non-Hodgkin lymphoma in patients with PID?

B-cell (D) Signup and view all the answers

Which of the following PIDs has the highest incidence of cancers, including Hodgkin and Non-Hodgkin lymphoma?

Ataxia-telangiectasia (C) Signup and view all the answers

What is a symptom that patients with PID should be educated to report?

Recurrent fever (D) Signup and view all the answers

What is a general recommendation for cancer prevention in patients with PID?

Avoid STIs (A) Signup and view all the answers

In which tissues are Non-Hodgkin lymphoma in patients with PID often found?

Gastrointestinal tract and central nervous system (B) Signup and view all the answers