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25 Cards in this Set

  • Front
  • Back
Phagocytic Disorders
Qualitative vs. Quantitative
Quantitative: cells involved are few in #, but the ones present are normal. (e.g. Neutropenia, Hyposplenism).

Qualitative: there are enough cells, but they do not function properly.
▪Divided into two groups (1) Enzymatic Deficiency [CGD] (2)Caused by adhesion deficiencies (Chediak Higashi syndrome, Leukocyte Adhesion Deficiency)
▪The Hexose mono-phosphate pathway (HMP) is involved in the killing of organisms by using activated forms of Oxygen. NADPH is a cofactor involved and relies on NADPH oxidase to be oxidized. Collectively this activity is called the respiratory burst.
• Phagocytic Disorder, quantitative

• ↓# of neutrophils
• Congenital or acquired
• Neutrophils are important killing bacteria, so a deficiency causes ↑ susceptibility to bacteria.
• Phagocytic Disorder, quantitative

• Spleen is defective (could have been removed surgically or deficient in function—hemolytic anemia)
• Result: ↓#macrophages →↑susceptibility to infection.
Chronic Granulomatous Disease
• Phagocytic Disorder, Qualitative

• Inherited as either Autosomal recessive or Z linked.
• Onset is usually seen by age of 2.
• Deficiency of NADPH oxidase (necessary for NADPH cofactor in Hexose mono-phosphate pathway) → no activated forms of oxygen to kill bacteria.
• Patients with this disease are not able to fight infections that are catalase+/peroxidase- infections (e.g. Staphlococcus infections).
• Clinical findings: lymphadenopathy, chronic lymphatic drainage, hepatosplenomegaly, and dermatitis.
• Characterized by granuloma formation which occurs usually to wall off infection. There is a central area of caseous necrosis w/ a ring of macrophages & lymphocytes surrounding it.
• Diagnosis made w/ nitroblue tetrazolium test (NBT). If cells are normal, they turn blue when stimulated w/ respiratory burst. If stays pink, enzyme (NADPH oxidase) is normal.
Leukocyte Adhesion Deficiency
• Phagocytic Disorder, Qualitative

• Defect in LFA-1, Mac-1, gp 150/95.
Chediak-Hagashi Syndrome
• Phagocytic Disorder, Qualitative

• Recurrent bacterial infection, partial oculo-cutaeous albinism.
• Giant lysosomes that are defective in fusing with phagosomes to create phagolysosomes.
Primary Immunodeficiecy
Present @ or near birth.

Usually inherited and genetically determined.
Secondary Immunodeficiency
more comon than primary immunodeficiency.
Acquired as a result of malnutrition, autoimmune disease, protein losing states, allergic disease, viral infection [AIDS[, malignancy, or drugs (either by causing malignancy or to treat malignancy)
4 Components of teh Immune System that can be affected by Immunodefiency diseases (are these part of the innate/acquired system?)
(1) Phagocytic cells (innate IS)

(2) B cells (Acquired IS)

(3) T cells (Acquired IS)

(4) Complement (Innate IS)
• B cell disorder

• X linked recessive disorder (Bruton Tyrosine Kinase—BTK gene)
• B cells arrested in maturation, resulting in severe panhypogammaglobulinemia (efficiency in all 5 Igs). Because the B cells are immature, you are not making Ab.
• CMI/T cells are normal.
• Symptoms: >6 months due to maternally derived IgG
• Infection usually caused by pyogenic encapsulated bacteria
• Present w/ respiratory tract infections (otitis, sinusitis, pneumonia), skin (pyoderma), GI (diarrhea), or systemic (sepsis, meningitis, septic arthritis)
• Vaccine-related polio (common w/ oral polio vaccine)
Common Variable Immune Deficiency (CVI)
• B cell disorder
• Heterogeneous group of disorders with panhypogammaglobulinemia (deficient in all 5 classes of Ig).
• Normal B cell #, but B cells are not making Ab.
• Variable degree of T cell function/dysfunction.
• Variable pattern of inheritance.
• Clinical findings:
-chronic upper & lower respiratory tract infections
-diarrhea w/ malabsorption
-hematologic abnormalities (autoimmune hemolytic anemia, pernicious anemia, leukopenia)
-splenomegaly, lymphadenopathy
-Associated with Rheumatoid-Arthritis-like disorder, SLE
Transient Hypogammaglobulinemia
• B cell disorder
• Maternal IgG is the only Ig to cross the placenta. Full term newborn has = amounts of IgG as mother.
• After birth, levels of IgG are lowest @ 2-4 months (t1/2: 20-30d). Levels of IgG should then increase physiologically.
• CLINICAL PRESENTATION: Baby is still deficient in IgG 17-19 months after birth because of delay in IgG production.
• Usually no need to treat with Ig because levels gradually return to normal spontaneously.
Selective IgA Deficiency
• B cell disorder
• Most common immune deficiency (1: 400-600)
• Usually asymptomatic but can present with chronic sinus & lung infections.
• Patients should not receive gammaglobulins or whole blood because they will mount an IgA response (anti-IgA)
Selective IgG Deficiency
• B cell disorder
• Total IgG is usually normal.
• Selective deficiency with ≥IgG subclass.
• IgG 1, 3 → deficiency associated with viral/protein Ag.
• IgG 2, 4 → deficiency associated wit polysaccharide Ag.
• Low IgG1 associated with hypogammaglobulinemia
• Low IgG2 concentration often associated with both IgG4 & IgA deficiency.
Hyper IgM Syndrome
• B cell disorder
• Defiency of CD40L ligand on CD4 T helper cells leads to inability for B cells to “class switch” from IgM to IgA, IgE, IgG.
• Presents with ↑IgM, very low ↓↓IgA, IgE, IgG
• Clinical findings: bacterial infections, opportunistic infections, neutropenia, hepatosplenomegaly, chronic diarrhea, intestinal tract malabsorption.
DiGeorge Syndrome
• T cell Disorder
• Congenital hypoplasia or aplasia of thyus or parathyroids (lack these)
• Decreased # T cells
• Successfully treated w/ thymic hormones or thymus graft.
• Due to failure of 3rd & 4th pharyngeal pouch development.
• Presents with tetany owing to hypocalcemia, recurrent viral & fungal infections due to T cell deficiency. Congenital defects of heart & great vessels. Dysplasia (low set) ears, hypertelorism (wide-set eyes), elongated philtrum.
• Deletion of 22q11 (catch 22)
Partial DiGeorge Syndrome
• T cell Disorder
• Variant of DiGeorge Syndrome.
• 22q11 deletion (catch 22)
Velo-Cardiofacial Syndrome (Shprintzen's Syndrome)
• T cell Disorder
• Catch 22. Deletion of 22q11.
• Subtle T cell abnormalities with functional Ab deficiencies.
• Lymphopenia & thrombocytopenia (↑mean platelet volume).
• Congenital heart disease, bird like appearance, recurrent upper respiratory infections.
Severe Combined Immunodeficiency Syndrome (SCID)
• Combined B & T cell Disorder
• Onset by 6 mo of age.
• Recurrent viral, bacterial, fungal, protozoal infection.
• X-linked & Autosomal recessive. Associated w/ enzyme deficiencies.
• B & T cell deficiency.
• Failure to thrive, chronic diarrhea, chronic middle ear infections, susceptible to GVHD, variable degrees of hypogammaglobulinemia.
Ataxia Telangiectasia
• Combined B & T cell Disorder
• Autosomal Recessive
• Defect in DNA repair enzymes with associated IgA & IgG2 deficiency.
• CMI deficiency.
• Have recurrent sinopulmonary infection, cerebellar ataxia
• Telangictasia (dilation of blood vessels in cornea & bulbar conjunctiva)
Wiskott Aldrich Syndrome
• Combined B & T cell Disorder
• X linked defect in the ability to mount an immune response to capsular polysaccharides of bacteria
• ↑IgA, IgE, ↓IgM levels
• Triad of symptoms (WIPE):
pyogenic infections of ear, sinus, lung.
Thrombocytopenic purpura
• Treatment: prophylactic Ig & antibiotics, HSCT (bone marrow transplant)
Hyper IgE (Job) Syndrome
• Combined B & T cell Disorder
• ↑IgE, normal IgG, Ma, A
• Poor Ab & cellular response to Ag
• Presents with staph infections (skin, lung, & joints), recurrent boils
Chronic Mucocutaneous Candadiasis
• Combined B & T cell Disorder
• Defective T cell function.
• Persistent infection in skin, nails, & mucous membranes.
C3 Deficiency
• Complement Deficiency (most common)
• Associated with Gram + Infections
• Recurrent bacterial infections similar to agammaglobulinemia
C5-9 Deficiencies (MAC)
• Associated with Gram-Negative Neisserial infections.