III - Immunodeficiency Disorders

Question 1

Recurrent infection with pyogenic bacteria

Answer 1

B-cell deficiency

Question 2

Recurrent infection with virus, fungi, protozoa

Answer 2

T-cell deficiency

Question 3

Deficiency in all immunoglobulins due to a tyrosine kinase deficiency presenting at 6 mo as recurrent pyogenic infections, enteroviral infections

Answer 3

X-linked Agammaglobulinemia / Bruton’s agammaglobulinemia

Question 4

Treatment for Bruton’s agammaglobulinemia

Answer 4

pooled gamma globulin

Question 5

Deficiency in IgA, presenting as recurrent sinus, lung infection

Answer 5

Selective agammaglobulinemia

Question 6

Treatment for selective agammaglobulinemia

Answer 6

Treatment of infection, DO NOT give globulin

Question 7

Defect in B-cell maturation to plasma cell, presenting as recurrent pyogenic infections

Answer 7

Common Variable Immunodeficiency (CVID)

Question 8

Treatment for CVID

Answer 8

pooled gamma globulin

Question 9

Chromosomal defect in Di George Syndrome

Answer 9

chromosme 22q11.2 deletion

Question 10

Clinical manifestations of DiGeorge Syndrome

Answer 10

CATCH22 - Cardiac anomalies, Abnormal facies, Thymus hypoplasia, Cleft lip, Hypocalcemia (parathyroid hypoplasia), ch22 deletion, recurrent viral infection

Question 11

Treatment for DiGeorge syndrome

Answer 11

Thymus transplant

Question 12

Specific T-cell deficiency for Candida albicans

Answer 12

Chronic mucocutaneous candidiasis

Question 13

TOC for CMCandidiasis

Answer 13

Azole drugs

Question 14

Defect in SCID

Answer 14

defect in IL-2 Tcell receptor, adenosine deaminase deficiency

Question 15

TOC for SCID

Answer 15

Plastic bubble, marrow transplant

Question 16

Defect in Wiskott-Aldrich syndrome

Answer 16

WASP gene mutation, inability to mount IgM response

Question 17

Clinical findings in Wiskott-Aldrich syndrome

Answer 17

TIE a WASP: Thrombocytopenia (bleeding), Infections, Eczema

Question 18

Deficiency in Ataxia-Telangiectasia

Answer 18

IgA

Question 19

Defect in chronic granulomatous disease

Answer 19

lack of NADPH oxidase –> failure of oxidative burst

Question 20

Diagnostic stain for chronic granulomatous disease

Answer 20

Nitroblue Tetrazolium Test

Question 21

Disease featuring impaired phagolysosomal function causing recurrent pyogenic infection by staph and strep

Answer 21

Chediak-Higashi Syndrome

Question 22

Deficiency in Leukocyte Adhesion Deficiency

Answer 22

LFA-1 and integrins

Question 23

Clinical presentation of LAD

Answer 23

Delayed separation of umbilical cord and severe pyogenic infections in infancy

Question 24

Most common complement deficiency

Answer 24

C2 deficiency

Question 25

Common infection in C5-9 deficiency

Answer 25

Neisseria meningitidis/gonorrhea