MYD88 Deficiency

Question 1

What are the symptoms of MYD88 Deficiency?

Answer 1

Prolonged and severe bacterial infections (starting at the age less than 2).
Invasive infections:
septicemia–> blood
the meninges–> meningitis
joints–> arthritis-like symptoms
(can lead to localized infections in ear, nose, and throat).

Question 2

What gene is involved in MYD88 Deficiency? (What is its function?)

Answer 2

MYD88 gene (helps with initiating inflammation in the innate immune response)

Question 3

What is the inheritance pattern of MYD88 deficiency?

Answer 3

Autosomal recessive

Question 4

What is the phenotype of the heterozygous in terms of MYD88 Deficiency?

Answer 4

No symptoms of MYD88 deficiency