Innate Inherited Immune Diseases

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Innate Inherited Immune Diseases by Mind Map: Innate Inherited Immune Diseases

1. Asplenia

1.1. Inherited or acquired

1.2. increased susceptibility to encapsulated bacteria

1.3. increased susceptibility to septic infections

1.4. Clinical Treatment

1.4.1. vaccination for encapsulated bacteris

1.4.2. give antibiotics before dental procedure or RI or fever

2. Complement Deficiencies

2.1. C1, C2, C4

2.1.1. Immune Complex Disease small immune complex usually opsonized by classical cascade

2.2. C3

2.2.1. susceptible to encapsulated bacteria and all bacteria

2.3. C5-9

2.3.1. Susceptible to Neisseria

2.3.2. 5 worse than the others

2.4. Factor D

2.4.1. Susceptible to Neisseria and encapsualted bacteria

2.4.2. No immune-complex disease

2.5. Factor I

2.5.1. Like C3

2.5.2. leads to depletion of C3b

2.5.3. abnormal C3 convertase activity

3. NK Cell Deficiencies

3.1. Diagnosis = flow cytometry, but difficult

3.2. Clinical Presentation

3.2.1. Increased severity and incidence of viral infections Varicella Herpesvirus Epstein-Barr Mycobacterium avium/intracellular Trichophyton - fungus of hair, skin, nails

3.3. Genetic Deficiency

3.3.1. Defective formation of cytoplasmic granules

3.3.2. Defective perforin

3.3.3. Defects in development in BM

3.4. Types

3.4.1. Absolute absence or TOTAL lack of NK function

3.4.2. Functional Normal # of NK cells, but lack of NK cell function have NKT cells

3.4.3. Classical lack NK and NK function, but have NKT cells


4.1. Defeciency in NEMO = cannot activate NFKB

4.1.1. Most TLR receptors use NFKB to control cytokine expression

4.2. Physical Appearance

4.2.1. Deep set eyes

4.2.2. Sparse Hair

4.2.3. Missing or Conical Teeth

4.2.4. Blisters or Change in Skin Pigment

4.3. Susceptible to Viral and Bacterial Pathogens

4.3.1. Mycobacterium Avium

4.4. Treatment

4.4.1. Biweek injection of Gamma Globulin

4.4.2. BM Transplant

4.4.3. Stem cells from Umbilical Cord

5. Inherited Phagocyte Defects

5.1. Chronic Granulomatous Disease

5.1.1. Genetic mutation, leads to nonfunctional gp91 protein

5.1.2. Cannot produce ROS = bad at killing bacteria

5.1.3. Chronic bacterial and fungal infection

5.1.4. More granulomas

5.1.5. Susceptible to Staph, E. Coli, Klebsiella, Aspergillus, Candida, Nocardia

5.1.6. Children healthy at birth Most common infection is Serratia marcescens in skin or bone

5.1.7. Diagnosis Nitroblue Tetra-solium Test Normal Neuts can change color Dihydrorhadamine Test Normal Neuts can cause fleurescents, Negative Test = Have Disease

5.1.8. Treatment Intraconazole IFN Gamma TMP-SMX

6. Neutropenia

6.1. Susceptible to normal flora, bacterial and fungal infections

6.2. Types

6.2.1. Kotsmann Syndrome or Severe Congenital Neutropenia AR disrorder abnormality in G-CSF or receptor that stimulates granulocyte growth

6.2.2. Cyclic Neutropenia AD disorder Neutropenia occur every 2-4 weeks, lasts about a week defect in ELA-2 gene that encodes elastase

6.2.3. Benign Chronic Neutropenia low, not life-threatening neutropenia = ASYMPTMATIC

6.3. Low number of granulocytes, neutrphil less than 500 cells/uL

7. Complement Deficiencies

7.1. DAF (CD55) and Proctectin (CD59)

7.1.1. Hemolytic anemia, red urine and thrombosis

7.1.2. Deficiency in glycophophatidyllinositol = required for surface expression

7.1.3. normally Interfere with MAC formation on Host cells

7.1.4. Treatment with allogenic BM transplant = cure

7.1.5. Treatment with C5 MAB = decrease need for transfusions and risk for thrombosis

7.2. C1INH

7.2.1. Controls spontaneous activity of C1

7.2.2. Overproduction of Anaphylatoxins HANE

7.2.3. Treatment Monthly Injection of C1INH

7.3. MBL

7.3.1. Increased susceptibility to severe bacterial infection

7.3.2. recurrent severe infections

7.3.3. Impaired Acute Phase Response

8. Inherited Phagocyte Defects

8.1. Leukocyte Adhesion Deficiency

8.1.1. Genetic Deficiency in CD18: integrin on phagocyes


8.1.3. Susceptible to bacterial and fungal infection, especially ENCAPSULATED bacteria

8.2. Glusoce-6-PO4 Dehydrogenase

8.2.1. defective enzyme - defective respiratory burst

8.2.2. impaired killing of pahgocytosed bacteria

8.2.3. Chronic bacterial and fungal infections; increased susceptibility of extracellular pathogens

8.2.4. Anemia with certain agents

8.3. Myeloperoxidase

8.3.1. catalyzes formation of HOCL

8.3.2. defective in Macs and Neuts = impaired formation of ROS

8.3.3. impaired killing of phagocytosed bacteria

8.3.4. chronic bacterial and fungal infections

9. Inherited Phagocyte Defects

9.1. Chédiak-Higashi

9.1.1. Genetic defect in LYST gene; nofusion of lysosome:phagosome

9.1.2. Can't kill phagosytosed bugs

9.1.3. Triad Presentation Partial Albinism Recurrent Pyogenic Infections (step/staph) Neurological Disorders

9.1.4. Infection of skin, lungs, and Respiratory Tract most common S. aureus, S. pyogenes, Peumococcus

9.1.5. Diagnosis Genetic Testing Neutrophil appearance (Dohyle Bodies)

9.1.6. Treatment BM Transplant