Immune deficiencies Flashcards
C1q deficiency
SLE-like syndrome
C6-C9 deficiency
Neisseria meningiditis
C1rs, C2, C4
SLE-like syndrome with glomerulonephritis
C3 or C5 deficiency
Pyogenic infections
B cell deficiencies
Increased susceptibility to EC organisms
T cell deficiencies
1) Combined immunodeficiency
2) Opportunistic infections
AIDS Immunoglobulins?
With full blown AIDS, not enough CD4 cells to undergo class switching. Almost entirely IgM against gp120 and gp41, which contrinue to change.
Bruton hypogammalobulinemia
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.
Selective IgA deficiency
6 A's Asymptomatic Atopic Anaphylactic Airway infections Associated with AI conditions Low IgA
Common variable immunodeficiency
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
Thymic aplasia
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
IL-12 Receptor deficiency
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.
Hyper IgE
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
Chronic mucocutaneous candidiases
T cell dysfunction. Chronic mucocutaneous candidiases
Severe combined immunodeficiency
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
Ataxia-Telangiectasia
ATM gene mutation (ds breaks in DNA) Ataxia Angiomas Increase AFP IgA deficiency, along with G and E
Hyper IgM
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
WAS
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
Leukocyte adhesion deficiency
CD18 (LFA-1) integrin defective. AR. See: 1) Non pyogenic infections with bad wound healing 2) No umbilical cord loss 3) Neutrocytosis
Chediak-Higashi Syndrome
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
Chronic granulomatous disease
Defect in NADPH oxidase needed for H202 formation. Macrophages cannot kill.
Increased susceptibility to catalase + organisms like: Pseudomonas Listeria Aspergillus Candida Ecoli Staph Serratia.
X linked immunodeficiencies?
Bruton agammaglobulinemia
WAS
Some forms of SCID (IL2 receptor)
