Immuno Chart Diseases

Question 1

Common Variable Hypogammaglobulinemia

Answer 1

Low serum Ig–> increased risk infections.
Low serum IgG & IgA; sometimes IgM.
Tx: give IVIg

Question 2

Transient Hypogammaglobulinemia

Answer 2

Defect: immature T cells, decreased CD19, increased nTreg, or cytokine defect
Infections, atopy, and allergies
Abnormal delay in Ig synthesis
Tx: give IVIg

Question 3

X-linking agammaglobulinemia (Bruton’s)

Answer 3

Defect in BTK
Recurrent bacterial infections
Lack B cells
Can't progress past pre-B cell 
Tx: IVIG

Question 4

Immunoglobulin Deficiency w/ increased IgM

Answer 4

Defective: Defective CD40/CD40L
No isotype switching so only high IgM
No immune memory; viscosity
Tx: give IVIg

Question 5

Chediak Higashi

Answer 5

LYST mutation
Albinism; increased viral, fungal, and intracell bacterial infections
No fusion of lysosome with phagosome
LYST required for NK, CTL, and phagocyte fan
Tx: marrow transplant

Question 6

Chronic Granulomatous Disease

Answer 6

NADPH oxidase defect
Bacterial and fungal infections
ROIs increased
Tx: cytokines that enhance activity of ROIs or marrow transplant

Question 7

Leukocyte adhesion deficiency-1 (LAD-1)

Answer 7

CD18 defect
Frequent infections, poor wound healing
Impaired trafficking of leukocytes to site of infection
Delayed separation of umbilical cord
Tx: marrow transplant

Question 8

Hereditary Angioedema

Answer 8

C1 esterase Inhibitor Deficiency
Life threatening edema
Uncontrolled activation of C1 –> kalkrien activation–>bradykinin and increased vascular permeability
Tx: give C1 esterase inhibitor

Question 9

C3 deficiency complement

Answer 9

C3 deficiency
Frequent infections.
Cannot activate alternative path and classic path cannot proceed beyond C2, C4 activation
Tx: Antibiotics

Question 10

C5-C9 deficiency complement

Answer 10

C5-C9 deficiency
Recurrent Neisserial infections; No MAC attack
Tx: antibiotics

Question 11

Paroxysmal Nocturnal Hemoglobinuria (PNH)

Answer 11

GPI linkage not present on red blood cells
Fatigue, SOB, abdominal pain
RBCs don’t express CD55 or CD59 for protecting against complement lysis
Diagnose with flow cytometry
Tx: give antibody

Question 12

Chronic Mucocutaneous Candidiasis

Answer 12

Hole in repertoire to candida albicans
Superficial infections of mucosa, nail, or skin
Th17 cytokines critical for host defense
Tx: anti-fungals or cytokine therapy

Question 13

X-linked (IPEX) Syndrome

Answer 13

FOXP3 mutation
Autoimmunity
Defective development of nTregs

Question 14

Selective IgA Deficiency

Answer 14

IgA defect
Recurrent sinopulmonary infections
At risk for transfusion reactions, increased risk of atopic and autoimmune runs
Tx: antibiotics

Question 15

XSCID

Answer 15

CD132 mutation
Failure to thrive
Recurrent and persistent infections
Lack of signaling: IL-2, 4, 7, 9, 15, 21
Tx: marrow transplant, gene therapy, IVIG

Question 16

SCID- ADA

Answer 16

ADA deficiency
Failure to thrive
Early onset infections-gut and respiratory
Deoxy-ATP and Deoxyadenosine accumulate (toxic)
Tx: PEG-ADA, gene therapy, marrow transplant, IVIG

Question 17

SCID-JAK3

Answer 17

JAK3 defect
Failure to thrive
Recurrent and persistent infections
Lack of signaling: IL-2, 4, 7, 9, 15, 21
Tx: marrow transplant, IVIG

Question 18

Reticular Dysgenesis

Answer 18

Absent stem cells
Fatal septicemia after birth
Impaired myeloid and lymphoid development
neutropenia unresponsive to rGSF
Tx: marrow transplant

Question 19

DiGeorge Syndrome

Answer 19

Ch 22 defect
Failure to Thrive
Infections
PTH glands, thymus, heart ma y be affected
physical abnormalities
asthma & allergies
No T cells, B cells also affected 
Tx: antibiotics, thymic transplant