Primary (congenital) Immunodeficiencies

Primary immunodeficiencies is caused by

genetics

Primary immunodeficiencies types

1. Humoral

2. T cell

3. Combined T and B cell

Humoral Deficiencies (3)

- X-linked agammaglobulinemia (XLA)

- common variable immunodeficiency (CVID)

- selective IgA deficiency

X-linked agammaglobulinemia (XLA)

NO B cells, NO antibodies

- lack enzyme that matures B cells

- B cells dont work

- no protection

- HIGH risk for infection

CVID

Defected B cells = LOW antibodies

- dont differentiate into plasma cells

- normal B cell count

- low IgG

- some protection

How is XLA and CVID treated?

IV antibodies given every 3-4wks or subQ daily

Selective IgA Deficiency

No IgA

- B cells dont differentiate into IgA

- No symptoms

- diagnosed accidentally (celiac disease)

IgA function

lines and protects internal mucosa (resp and GI)

Low IgA results in?

upper resp infections, IBD, allergies

Is there a treatment for IgA Deficiency?

No, preventative measures to reduce infection risk

T cell deficiency (DiGeorge Syndrome)

congenital heart disease, abnormal faces (cleft lip) hypocalcemia, tetany

Combined T and B cell deficiency - (severe combined immunodeficiency, SCID

NO B and T cells

- FATAL if untreated

SCID treatment

stem cell transplant