Allergology/Immunology

Question 1

Chromosomal abnormality in DiGeorge Syndrome

Answer 1

22q11.2 deletion

Question 2

Primary immunodeficiency in an infant with PROLONGED BLEEDING from CIRCUMCISION SITE or with BLOODY DIARRHEA

Answer 2

Wiskott-Aldrich Syndrome

Question 3

Primary immunodeficiency in an infant with DELAYED UMBILICAL CORD SEPARATION

Answer 3

Leukocyte Adhesion Deficiency

Question 4

Primary immunodeficiency in an infant with RECURRENT PYOGENIC INFECTIONS WITH CATALASE (+) ORGANISMS

Answer 4

CHRONIC GRANULOMATOUS DISEASE

Question 5

Minimal SBP per age

Answer 5

Neonate: 60 mmHg
Infants: 70 mmHg
1-9 years old: age x 2 + 70 mmHg
> 10 years old: 90 mmHg

Question 6

Primary Defects of ANTIBODY Production

Answer 6

XLA or Bruton Agammaglobulinemia
CVID
Selective IgA Deficiency
Hyper IgM syndrome
X linked lymphoproliferative disease or Duncan disease

Question 7

Primary Defects of CELLULAR Immunity

Answer 7

Thymic Hypoplasia ot Digeorge Syndrome

Question 8

Primary Combined Antibody and Cellular Immunodeficiencies

Answer 8

SCID
Wiskott Aldrich Syndrome
Hyper IgE syndrome (AD)
Hyper IgE syndrome (AR)

Question 9

Disorders of Neutrophil Function

Answer 9

Chediak Higashi Syndrome
Leukocyte Adhesion Deficiency
Chronic Granulomatous Disease