Primary Immunodeficient disease

Question 1

Transient Hypoglobulinemia of infancy

Answer 1

Low Ig levels in infancy (but only transient)
due to a decline in maternal Ig and slow in infant making own Ig
deficiency resolves in 1st or 2nd yr of life
do nothing

Question 2

Common Variable Immunodeficiency (CVID)

Answer 2

Antibody immunodeficiency ( hypogammaglobulinemia)
peak onset: 1-5 yrs, 16-20yrs
low to normal peripheral B cells, absence of plasms cells, variable low IgG, IgA, IgM
Treatment: Ig replacement therapy or bone marrow transplant

Question 3

X-linked (Bruton’s) agammaglobulinemia (XLA)

Answer 3

defect in BTK gene
no B lymphocyte differentiation/development
No B cells, no Ig, no plasma cells, no germinal centers
T cells normal
X-linke= affects boys only

Question 4

IgA Deficiency

Answer 4

most common deficiency
Autosomal inheritance
Serum IgA low,normal IgM/IgG
commonly have pulmonary and GI infections
Blood transfusions should not be done

Question 5

X-linked Lymphoproliferative Syndrome (Duncan’s Disease)

Answer 5

mutation in SAP protein
inability to respond to EBV- infects B cells
infectious mononucelosis, B cell lymphomas, hypogammaglobulinemia
failure to make Anti-EBV ab, defective cytokine secretion, low CD4/CD8 ratio

Question 6

DiGeorge Syndrome

Answer 6

disturbed 3rd and 4th pharyngeal pouche development
absent or reduce T cells
Normal or low Ig levels
Tetany, craniofacial and cardiovascular defects
hypothyroidism

Question 7

Chronic Mucocutaneous Candidiasis (CMC)

Answer 7

T cell dysfunction
persistent Candida infection of scalp, nails, mucous membranes
early childhood onset common, adult onset reported

Question 8

X-linked Hyper-IgM Syndrome

Answer 8

defect CD40L on T cells
X-linked: only seen in boys
lots of IgM, no other types
germinal centers do NOT form
No leukocytosis with infection

Question 9

Type 2 Hyper-IgM syndrome

Answer 9

Defect in AID enzyme
autosomal recessive- both boys and girls 
lymphoid hyperplasia
massive germinal centers
lots IgM, not other Ig types

Question 10

SCID- Adenosine Deaminase Deficiency

Answer 10

defect in ADA, accumulation of toxic metabolites
reduced T and B cells
unique: Pseudochondrodysplasia (defect in cartilage formation)

Question 11

SCID- Purine nucleoside phosphorylase deficiency

Answer 11

defect in PNP
accumulation of toxic metabolites to T cells, NOT B cells
reduced T cells
normal B cells, normal Ig levels but functionally impaired

Question 12

SCID- Reticular Dysgenesis

Answer 12

defect at the level of the HSC
most severe form of SCID
absent Tcell, B cell, myeloid cells

Question 13

X-linked SCID

Answer 13

Defect in gamma chain of cytokine receptor
Reduce T cells
NORMAL B cells
Serum IgG reduced

Question 14

Bare Lymphocyte Syndrome

Answer 14

Deficient in either MHC Class I or MHC Class II

No Class II, no CD4+ cells

Question 15

Omenn Syndrome

Answer 15

Defect in Rag 1, Rag2 or Artemis (some residual function)
autosomal recessive
few oligoclonal T cells : autoreactive, product Th2 cytokines (IL-4, IL-5)
few B cells (absent)
high IgE
Artemis- radiosenstivity
autoimmune aspects present as GVHD

Question 16

Jobs Syndrome

Answer 16

mutation in STAT3
autosomal dominant
hyper IgE
problem with teeth, skin infections, deep subcutaneous abscesses
most infections due to S. Aureus

Question 17

Wiskott-Aldrich Syndrome

Answer 17

Defect in WASp
X-linked- only males
triad: increased infections, thrombocytopenia, eczema
poor response to polysaccharide antigens
always a T cell deficit, often B cell deficit

Question 18

Ataxia- Telangiectasia

Answer 18

mutation in a kinase involved in signaling and repair (T cell activation of antigen)
Autosomal recessive
Ataxia, chorea, occular telangiectasia, neurological deficits, radiosensitive , immunodeficient, may be IgA and IgG2 deficient

Question 19

Chronic Granulomatous disease

Answer 19

X-linked
mutation in NADPH oxidase
granulomas in the skin, GI tract, and GU tract
early onset: 2-5 yrs of age
severe recurrent fungal and bacteria infections (fatal)
NBT test used to diagnosis

Question 20

Chediak-Higashi Syndrome

Answer 20

Autosomal Recessive
Defect in LYST gene- lysosomal defect
Immunodeficient
abnormal platelet function- easy bruising, bleeding
Albinism
neurological dysfunction

Question 21

Leukocyte Adhesion Deficiency

Answer 21

Type I: LFA-1/CD18 deficiency on lymphocytes, macrophages, neutrophils

Type II: defect in Fucosyltransferase enzyme, loss of E-selectin and P-selectin on leukocytes

leukocytes fail to migrate to sites of infection, leading to infections, poor wound heating
Recurrent bacterial and fungal infections, no pus (b/c no neutrophils)