Immune deficiencies

Question 1

C1q deficiency

Answer 1

SLE-like syndrome

Question 2

C6-C9 deficiency

Answer 2

Neisseria meningiditis

Question 3

C1rs, C2, C4

Answer 3

SLE-like syndrome with glomerulonephritis

Question 4

C3 or C5 deficiency

Answer 4

Pyogenic infections

Question 5

B cell deficiencies

Answer 5

Increased susceptibility to EC organisms

Question 6

T cell deficiencies

Answer 6

1) Combined immunodeficiency

2) Opportunistic infections

Question 7

AIDS Immunoglobulins?

Answer 7

With full blown AIDS, not enough CD4 cells to undergo class switching. Almost entirely IgM against gp120 and gp41, which contrinue to change.

Question 8

Bruton hypogammalobulinemia

Answer 8

X-linked = 4 B’s

1) Boys
2) BTK
3) No B cell maturation
4) Barely there LN

CD19 is ok, but proB are decreased and Ig are down.

Question 9

Selective IgA deficiency

Answer 9

6 A's
Asymptomatic
Atopic
Anaphylactic
Airway infections
Associated with AI conditions
Low IgA

Question 10

Common variable immunodeficiency

Answer 10

Also called, common variable agammaglobulinemia (low Igs)

Characterized by BBALS:

1) B cells cannot differentiate so there are low plasma cells
2) Brochiectasis
3) AI disease and common
4) Lymphoma common
5) Sinopulmonary infections

Question 11

Thymic aplasia

Answer 11

Also called DiGeorge’s Syndrome (Velcardiofacial syndrome).

Characterized by:

1) Cardiac anomalies (truncus, tetralogy)
2) Abnormal facies
3) Thymic aplasia (no T cells)
4) Cleft palate
5) Hypocalcemia (tetany with facial twitching or seizures and high PTH)
6) 22 q11 deletion

Question 12

IL-12 Receptor deficiency

Answer 12

Autosomal recessive.

IL-22 is needed to make T cells differentiate into TH1 cells.

TH1 cells cannot form or release IFNy, IL2, or TNFB.

Characterized by: Disseminated mycobacterial and fungal infections. May present after BCG vaccine.

Question 13

Hyper IgE

Answer 13

Job Syndrome = autosomal dominant.
B cells produce too much IgE because of STAT3 mutation which prevents TH17 development. See:
1) Facies (coarse)
2) Abscesses
3) Teeth (baby retained)
4) E (too much IgE)
5) Dermatological conditions

Question 14

Chronic mucocutaneous candidiases

Answer 14

T cell dysfunction. Chronic mucocutaneous candidiases

Question 15

Severe combined immunodeficiency

Answer 15

Can be B and T cell or just T cell, since T cells are needed to activate B cells fully.

1) Commonly, IL-2 receptor (X linked)
2) Less commonly, ADA deficiency (AR) or Bare lymphocyte syndrome (no MHC II).

Presents with:

1) Failure to thrive, chronic diarrhea and thrush
2) All types of infections
3) Reduced thymic shadow and no germinal centers

Treat with BM transplant

Question 16

Ataxia-Telangiectasia

Answer 16

ATM gene mutation (ds breaks in DNA)
Ataxia
Angiomas
Increase AFP
IgA deficiency, along with G and E

Question 17

Hyper IgM

Answer 17

Cannot class switch from IgM to other types of immunoglobulins 2/2 to CD40L mutation on T cells.

Recessive.

Presents with:

1) Pyogenic
2) Opportunistic
3) Low A, G, E

Question 18

WAS

Answer 18

WAS due to WASP mutation (acting polymerization).

Wiskott
Aldrich
Thrombocytopenia with small platelets
Eczema
Recurrent (bc low M and G)
Serious risk of AI and Malignancy

Question 19

Leukocyte adhesion deficiency

Answer 19

CD18 (LFA-1) integrin defective. AR.
See:
1) Non pyogenic infections with bad wound healing
2) No umbilical cord loss
3) Neutrocytosis

Question 20

Chediak-Higashi Syndrome

Answer 20

Defective LYST enzyme which is needed for P-L fusion and microtubule function.

Recessive.

Chediak
Higashi
Infections and infiltrative lymphohistiocytosis
Neuropathy and neutropenia (pancytopenia)
Azurophilic granules and albinisim

Question 21

Chronic granulomatous disease

Answer 21

Defect in NADPH oxidase needed for H202 formation. Macrophages cannot kill.

Increased susceptibility to catalase + organisms like:
Pseudomonas
Listeria
Aspergillus
Candida
Ecoli
Staph
Serratia.

Question 22

X linked immunodeficiencies?

Answer 22

Bruton agammaglobulinemia
WAS
Some forms of SCID (IL2 receptor)