Immunodeficiency Disorders

Question 1

SCID Xlinked

Answer 1

-CD132 mutation
-all types of infections
-Lack of signaling for IL2,4,7,9,15,21
IVIG, Bone marrow Transplant, Gene therapy

Question 2

SCID ADA

Answer 2

• Adenosine deaminase deficiency
• all types of infections (mainly in gut and respiratory)
• deoxyATP, deoxyadenosine levels increase (Toxic)
• PEG-ADA, IVIG, Bone marrow Transplant, Gene therapy

Question 3

SCID JAK3

Answer 3

-JAK3 defect (bound to CD132)
-all types of infections
-Lack of signaling for IL2,4,7,9,15,21
IVIG, Bone marrow Transplant

Question 4

Reticular Dysgenesis

Answer 4

-Lack of Stem cells
-fatal shortly after birth
Neutropenia unresponsive to recombinant human granulocyte colony stimulating factor
-Bone marrow transplant

Question 5

DiGeorge Syndrome

Answer 5

-Chromosome 22
-failure to thrive, all types of infections
-Thymus, heart, parathyroid all defects
Decreased number of T cells, therefore affecting B cells
-Antibiotics

Question 6

Common Variable Hypogammaglobinemia

Answer 6

Unknown cause

• Low serum Ig (A,G,M), increased infections
• mostly affects middle aged humans
• IVIG

Question 7

Transient Hypogammaglobulinemia

Answer 7

-Decreased CD19, Increased nTregs,
-Atopy, allergic reactions common
IgG synthesis delayed
-evident at about 6 months of age due to decrease in moms IgG
-IVIG

Question 8

X-Linked agammaglobulinemia (Bruton’s …)

Answer 8

• BTK defect
• Recurrent bacterial infections
• almost lack of B cells (don’t progress past Pre-B)
• T cells are fine
• evident at about 6 months of age due to decrease in moms IgG
• IVIG

Question 9

Hyper IgM disease

Answer 9

Defect in CD40/CD40L interaction

• only IgM produced because it cant isotype switch
• no classical immunological memory
• IVIG

Question 10

Chediak Higashi

Answer 10

• LYST mutation
• Albinism, gray hair in child, increased infections all types
• Large granules stuck inside of NK,phagocytes, CTLs
• no fusion of lysosomes with phagosome
• Bone marrow transplant

Question 11

Chronic Granulomatous Disease (CGD)

Answer 11

• NADPH oxidase defect
• Bacterial and fungal infections
• decreased ROIs
• give cytokines that increase ROI, Bone marrow transplant

Question 12

Leukocyte adhesion deficeincy 1(LAD 1)

Answer 12

CD18 (LFA1) defect

• frequent infections and poor wound healing
• impaired trafficking of leukocytes to sites of infections
• delayed separation of the umbilical cord
• Bone Marrow transplant

Question 13

Hereditary Angioedema

Answer 13

C1 inhibitor deficiency

• life threatening edema
• increased compliment activation, increased bradykinin and increased vascular permeability.
• give C1 inhibitor

Question 14

C3 deficiency complement

Answer 14

-C3 deficient
-frequent infections
classical complement doesn’t proceed past C2,C4 activation and alternative never starts
-give antibiotics

Question 15

C5-C9 deficiency

Answer 15

-C5-C9 deficient
- Neisserial infections, other bacterial infections not as severe
MAC can’t form
- give antibiotics

Question 16

Paranoxysmal Nocturnal hemoglobinuria (PNH)

Answer 16

• GPI-linkages not present
• RBC don’t express Decay accelerating Factor -CD55 or protectin -CD59
• Flow cytometry for GPI anchored to diagnose
• Give antibody for C5 to prevent RBC hemolysis

Question 17

Chronic Mucocutaneous Candidiasis

Answer 17

Hole in the repertoire to Candida Albicans
-superficial infections mucosa, nail, skin surfaces
-Normal T cell response to antigens,
Give anti fungal medication
-Th17 cytokines essential for host defense

Question 18

Xlinked syndrome (IPEX)

Answer 18

FOXP3 mutation

-defective development of nTregs (autoimmunity)

Question 19

Selective IgA deficiency

Answer 19

-lack of IgA
-Recurrent sinopulmonary infection
-Lack mucosal IgA
Give antibiotics
-at risk of atopic and autoimmune conditions, transfusion reaction