Immunodeficiency Disorder Flashcards
Severe Combined Immunodeficiency (XSCID)
Defect, Manifest, Mechanism Pathology, Comments, Immunological Treatment
- Defect: CD132
- Manifest: Failure to thrive. Recurrent and presistent infections. (bacterial, viral, fungal)
- Mechanism of Pathology: Lack of signaling receptors for IL2, IL-4, IL-7, IL-9, IL-15 & IL-21
- Comments: Other names such as gamma chain, IL2R, IL-2RG
- Immunological Treatment: Gene Therapy, Bone Marrow Transplant, IVIG
Severed Combined Immunodeficiency
Defect, Manifest, Mechanism of Pathology, Comments, Immunological Treatment
(ADA)
- Defect: Adenosine Deaminase Deficiency (ADA)
- Manifests: Early onset of infections, mainly of the respiratory tract and gut (bacteria, viral fungal). Failure to thrive
- Mechanism of Patholy: Metabolites deoxy-ATP and deoxy-adenosine levels increase: toxic
- Comments: Look at chart
- Immunological Treatment: Peg-ADA, Gene Therapy, Bone Marrow Transplant, IVIG
JAK3
Defect, Manifests, Mechanism of Pathology, Comments, Immunological Treatment
- Defect: JAK 3
- Manifests: Presents clinically the same as those with CD!#@ mutation, however occurs in the both maes and females
- Mechanism of Pathology: Lack of signaling via receptors fro IL-2, IL-4, IL-7, IL-9, IL-15 & IL-21
- Comments: Defect in JAK3 leads to same as a defect in CD132
- Treatment: Bone Marrow Trasnplant IVIG
Reticular Dysgenesis
Defect, Manifest, Mechanism of Pathology, Comments, Immunological Treatment
- Defect: Absence of Stem cells
- Manifests: Fatal septicemia shortly after birth
- MF: Impaired myeloid and lymphoid development
- C: Neutropenia unresponsive to recombinant human granulocyte colony-stimulating factor (rGCSF) is the hallmark of reticular dysgenesis
- IT: BM Transplant
Common Variable Hypogammaglobulinemia
Defect, Manifests, Mechanism of Pathology, Comments,
- D: Mainly unknown, and when know varies
- M: Low levels of serum Ig; Increased susceptibility to infections. Male and female.
- MP: Decreased serum of IgG and IgA; some patients also include decrease in IgM
- C: effects may vary from severe to mild; may first occur during chilhood, adolescence or adult life. Most diagnosis not made until 3rd or 4th decade of life
Transient Hypogammaglobulinemia
Defect, Manifest, Mechanism of Pathology, Comments, Immunological Treatment
- D:
- Immature T cells
- Decrease CD19
- Increase nTreg
- Cytokine defect
- M: Infections. Atopy & allergies common. Male & Female
- MP: Abnormal delay in oset o Ig synthesis, particularly IgG
- C: Evident about 6 months of age when IgG from placental transfer decreased or not present
- IT: IVIG
X-linked agammaglobulinia (Bruton’s agammaglobulinemia)
Defect, Manifest, Mechanism of Pathology, Comments, IT
- D: BTK (Bruton’s Tyrosine Kinase)
- M:
- Recurrent bacterial infections.
- Almost a lack of circulating B cells
- Defect in all classes if immunoglobulin
- MP: BTK expressed in proB to pre-B transition; block occurs such that cells do not progress past pre-B cell stage (leakage)
- C: Intact T cell immunity.
- MANIFEST AT 5-6 MONTHS OF AGE BC Decline in mother IgG trasnferred via placenta
Immunoglobulin deficiency with Increased IgM
Defect, Manifests, Mechanism of Pathology, Comments, Immunological Treatment
- Defect: Defective CD40/CD40L
- M: Deficiency of isotypes, IgG, IgA and IgE. Increased IgM
- MP: Isotype switching does not occur
- C: Viscosity. No classical immunological memory
- IT: IVIG
Chediak Higashi
Defect, Manifest, MP, C, IT
- Defect: LYST mutation
- M:
- Albinism; Gray hair in child
- Increased viral, fungal & intracellular bacterial infections
- MP:
- Large granules fused & not released from NK cells, Phagocytes, CTLs.
- No fusion of lysosomes with phagosome
- C:
- LYST: Lysosomal trafficking regulator.
- Exocytosis of granules required for CTL, NK and phagocyte function
- IT: BM transplant
Chronic granulomatous disease (CGD)
Defect, Manifests, Mechanism of Pathology, Comments, Immunological Treatment
- D: NADPH oxidase enzyme complex in phagocytes
- M: Bacterial and fungal infections
- MP: ROIs decreased
- C:Gene therapy clinical trial recruiting patients
- IT:Cytokines that enhance the production of ROIs. Bone marrow transplant
Leukocyte adhesion deficiency-1 LAD-1
Defect, Manifest, Mechanism of Pathology, Comments, Immunological Treatment
- Defect: CD18
- M: Frequent infections Poor wound healing
- MP: Impaired trafficking of leukocytes to sites of infection
- C: Delayed separation of the umbilical cord
- IT:Bone Marrow transplant
Hereditary Angioedema
Defect, Manifests, Mechanism of Pathology, Comments & Immunological Treatment
- D: C1 (esterase) inhibitor deficiency
- M: Life-threatening edema
- MP: Uncontrolled activation of C1
- C: Activation of kallikrein leads to increase in bradykinin and increased vascular permeability
- IT: Infusion of C1 esterase inhibitor
C3 deficiency Complement
D, Manifests, MP, C, IT
- D: C3 deficiency Complement
- M: Frequent infections
- MP: Cannot produce C3b opsonin, cannot activate alternative complement pathway
- C: Classical complement activation does not proceed beyond C2, C4 activation
- IT: Antibiotics
C5 to C9 deficiency Complement
Defect, Manifests, MP, C, IT
- D: C5 to C9 deficiency
- M: Recurrent Neisserial infections
- MP: Membrane attack Complex cannot form
- C: Other bacterial infections not as severely
- IT: Prompt antibiotic treatment
Paroxysmal nocturnal hemoglobinuria (PNH)
Defect, Manifest, Mechanism of Pathology, Comments, IT
- D: GPI linkage not present on red blood cells glycosylphosphatidylinositol
- M: Fatigue Shortness of breath Abdominal pain
- MP: Red blood cells do not express CD55 and CD59 for protection against complement mediated lysis
- C: Flow cytometric analysis of GPI-anchored proteins (GPIAP) is the gold standard for diagnosis of PNH
- IT: Antibody that binds to —-
