T And B Cell Deficiencies

Question 1

Low IgE, IgG and IgA

Answer 1

Common variable immune deficiency

Defect in B cell differentiation, comes on in adulthood, Hx of bronchiectasis

Question 2

Low IgA, IgG, elevated IgM

Answer 2

Hyper IgM syndrome

Normal numbers of both B and T cells

Question 3

Low IgA

Answer 3

Selective IgA deficiency

Most common, recurrent Resp and GI infections

Question 4

Low no of mature T cells

Answer 4

DiGeorge

CATCH22
Cardiac abnormal, Abnormal facies, Thymic aplasia, Cleft palate, HypoC/PT, 22q11.2 deletion

Question 5

Low CD4, IgA, IgG

Answer 5

Type II bare lymphocyte syndrome

MHCII absent, assoc with sclerosiing cholangitis

Question 6

Low CD8

Answer 6

Type I Bare lymphocyte syndrome

Absent MHCI

Question 7

No Abs

Answer 7

Brutons agammaglobulinaemia

Tyrosine kinase defect due to mutation in BTK gene –> failed production of mature B cells

Question 8

Low or abnormal B cells, low T cells, low Abs

Answer 8

SCID

Il2 receptor defect
Persistent diarrhoea and early infant death
EMQ- candida
BMT only established Rx