Primary Immune Deficiencies 2

Question 1

Lymphocyte deficiency: Severe recurrent infections from 3 months, CD4 and CD8 T cells absent, NK cells absent, B cell present, Igs low. Normal facial features and cardiac echocardiogram

A. Bare lymphocyte syndrome type II
B. X-linked SCID
C. DiGeorge syndrome
D. IFN gamma receptor deficiency

Answer 1

B. X-linked SCID

Question 2

Lymphocyte deficiency: Young adult with chronic infection with mycobacterium marinum

A. Bare lymphocyte syndrome type II
B. X-linked SCID
C. DiGeorge syndrome
D. IFN gamma receptor deficiency

Answer 2

D. IFN gamma receptor deficiency

Question 3

Lymphocyte deficiency: Recurrent infections in childhood, abnormal facial features, congenital heart disease, normal B cells, low T cells, low IgA and IgG

A. Bare lymphocyte syndrome type II
B. X-linked SCID
C. DiGeorge syndrome
D. IFN gamma receptor deficiency

Answer 3

C. DiGeorge syndrome

Question 4

Lymphocyte deficiency: 6 month baby with two recent serious bacterial infections. T cells present - but only CD8+ population. B cells present. IgM present but IgG low

A. Bare lymphocyte syndrome type II
B. X-linked SCID
C. DiGeorge syndrome
D. IFN gamma receptor deficiency

Answer 4

A. Bare lymphocyte syndrome type II

Question 5

B cell deficiency: Adult with bronchiectasis, recurrent sinusitis and development of atypical SLE

A. IgA deficiency
B. Common variable immunodeficiency
C. Bruton’s X linked hypogammaglobulinaemia
D. X linked hyper IgM syndrome due to CD40 ligand mutation

Answer 5

B. Common variable immunodeficiency

Question 6

B cell deficiency: Recurrent bacterial infections in a child, episode of pneumocystis pneumonia, high IgM, absent IgA and IgG

A. IgA deficiency
B. Common variable immunodeficiency
C. Bruton’s X linked hypogammaglobulinaemia
D. X linked hyper IgM syndrome due to CD40 ligand mutation

Answer 6

D. X linked hyper IgM syndrome due to CD40 ligand mutation

Question 7

B cell deficiency: 1 year old boy. Recurrent bacterial infections. CD4 and CD8 T cells present. B cells absent, IgG, IgA, IgM absent

A. IgA deficiency
B. Common variable immunodeficiency
C. Bruton’s X linked hypogammaglobulinaemia
D. X linked hyper IgM syndrome due to CD40 ligand mutation

Answer 7

C. Bruton’s X linked hypogammaglobulinaemia

Question 8

B cell deficiency: Recurrent respiratory tract infections, absent IgA, normal IgM and IgG

A. IgA deficiency
B. Common variable immunodeficiency
C. Bruton’s X linked hypogammaglobulinaemia
D. X linked hyper IgM syndrome due to CD40 ligand mutation

Answer 8

A. IgA deficiency