Primary Immunodeficiency

Question 1

What is the DiGeorge syndrome?

Answer 1

Developmental failure of the 3rd and 4th pharyngeal pouches due to 22q11 microdeletion

Question 2

What are the characteristics of the DiGeorge syndrome?

Answer 2

• T cell deficiency (problem-fighting viruses and fungi)
• Hypocalcemia
• Abnormalities of the superior part of the heart, great vessels and face

Question 3

What are the characteristics of the SCID?

Answer 3

• Susceptibility to fungal, viral, bacterial and protozoal infections
• Including opportunistic infection and live vaccines.

Question 4

what is the X linked agammaglobulinemia?

Answer 4

Complete lack of immunoglobulin due to disorder b cell maturation

• Presentation after 6 m of life

Question 5

What is the gene mutated in X linked agammaglobulinemia?

Answer 5

Bruton Tyrosine Kinase (BTK)

Question 6

when you don’t have Ig. What type of infection can you have?

Answer 6

Bacterial, enterovirus and giardia infection

Question 7

In what primary immunodeficiency is contraindicated live vaccines such as polio?

Answer 7

X linked agammaglobulinemia?

Question 8

What is the most common Ig deficiency?

Answer 8

IgA deficiency

– increased risk for mucosal infections

Question 9

Which GI defect is associated with IgA deficiency?

Answer 9

Celiac disease

Question 10

What is CVID ( common variable immunodeficiency)? And having this, there is an increased risk of what pathology?

Answer 10

• Low Ig due to B cells or helper T cells defect

- Increased risk for autoimmune disease and lymphoma

Question 11

What is hyper IgM syndrome?

Answer 11

Elevated IgM due to mutated CD40L or CD40 receptor

Question 12

What Ig arent present in the hyper IgM syndrome?

Answer 12

IgA, IgG, IgE

Question 13

What is the triad of the Wiskott- Aldrich syndrome?

Answer 13

1. thrombocytopenia
2. Eczema
3. Recurrente infections

***X linked, WASP gene mutation

Question 14

An increase risk of Neisseria Infection is seen in what primary immunodeficiency?

Answer 14

C5- C9 deficiency

Due to C1 inhibitor deficiency

Question 15

Complemental deficiency is characterized of ?

Answer 15

Edema in skin (specially in periorbital and mucosal surfaces )