Primary Immunodeficiency

Question 1

B-cell disorders

Answer 1

• X-linked (Bruton) agammaglobulinemia
• Selective IgA deficiency
• Common variable immunodeficiency
• Hyper-IgM syndrome

Question 2

T-cell disorders

Answer 2

• AIRE mutation
• Thymic aplasia (DiGeorge syndrome)
• IL-12 receptor deficiency
• Autosomal dominant hyper-IgE syndrome (Job syndrome)
• Chronic mucocutaneous candidiasis

Question 3

B- and T-cell disorders (combined)

Answer 3

• Severe combined immunodeficiency
• Ataxia-telangiectasia
• Wiskott-Aldrich syndrome

Question 4

Phagocyte dysfunction

Answer 4

• Leukocyte adhesion deficiency (type 1)
• Chédiak-Higashi syndrome
• Chronic granulomatous disease
• IRAK-4

Question 5

Complement Deficiencies

Answer 5

• C1q, C4 or C2
• C3
• C5,C6,C7 C8 or properdin
• C1 inhibitor deficiency

Question 6

What are Resp complications

Answer 6

• Chronic Otitis Media
• Deafness
• Sinusitis
• Bronchiectasis
• Pulmonary Fibrosis & ultimately Cor Pulmonale.

Question 7

What are GI complications

Answer 7

• Giardia Lamblia infection
• bacterial overgrowth of the small intestine
• Cryptosporidum (hyper Ig-M syndrome)
• Salmonella
• Campylobacter
• Rotavirus & Enterovirus
• Chronic Cholangitis
• some Hepatic Cirrhosis

Question 8

When can Echovirus infection happen? What’s the possible consequence?

Answer 8

• Infection in XLA & CVID
• Can cause severe persistent meningoencephalitis