Immunodeficiency Disorder Flashcards Preview

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Flashcards in Immunodeficiency Disorder Deck (18)
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1
Q

Severe Combined Immunodeficiency (XSCID)

Defect, Manifest, Mechanism Pathology, Comments, Immunological Treatment

A
  • 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
2
Q

Severed Combined Immunodeficiency

Defect, Manifest, Mechanism of Pathology, Comments, Immunological Treatment

(ADA)

A
  • 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
3
Q

JAK3

Defect, Manifests, Mechanism of Pathology, Comments, Immunological Treatment

A
  • 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
4
Q

Reticular Dysgenesis

Defect, Manifest, Mechanism of Pathology, Comments, Immunological Treatment

A
  • 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
5
Q

Common Variable Hypogammaglobulinemia

Defect, Manifests, Mechanism of Pathology, Comments,

A
  • 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
6
Q

Transient Hypogammaglobulinemia

Defect, Manifest, Mechanism of Pathology, Comments, Immunological Treatment

A
  • 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
7
Q

X-linked agammaglobulinia (Bruton’s agammaglobulinemia)

Defect, Manifest, Mechanism of Pathology, Comments, IT

A
  • 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
8
Q

Immunoglobulin deficiency with Increased IgM

Defect, Manifests, Mechanism of Pathology, Comments, Immunological Treatment

A
  • 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
9
Q

Chediak Higashi

Defect, Manifest, MP, C, IT

A
  • 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
10
Q

Chronic granulomatous disease (CGD)

Defect, Manifests, Mechanism of Pathology, Comments, Immunological Treatment

A
  • 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
11
Q

Leukocyte adhesion deficiency-1 LAD-1

Defect, Manifest, Mechanism of Pathology, Comments, Immunological Treatment

A
  • 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
12
Q

Hereditary Angioedema

Defect, Manifests, Mechanism of Pathology, Comments & Immunological Treatment

A
  • 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
13
Q

C3 deficiency Complement

D, Manifests, MP, C, IT

A
  • 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
14
Q

C5 to C9 deficiency Complement

Defect, Manifests, MP, C, IT

A
  • 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
15
Q

Paroxysmal nocturnal hemoglobinuria (PNH)

Defect, Manifest, Mechanism of Pathology, Comments, IT

A
  • 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 —-
16
Q

Chronic Mucocutaneous Candidiasis

D, M, MP, C, IT

A
  • D: Hole in repertoire to Candida albicans
  • M: Superficial infection of mucosal, nail or skin surfaces
  • MP: Normal T cell response to other antigens
  • C: Th17 cytokines critical for host defense
  • IT: Anti-fungal medication Cytokine therapy ??
17
Q

X-linked (IPEX) Syndrome

Defect, Manifest, Mechanism of Pathology, Comments

A
  • D: FOXP3 mutation
  • M: Autoimmunity
  • MP: Defective development of nTregs
  • C: Links immunodeficiency with autoimmunity
18
Q

Selective IgA deficiency

D, Manifests, MP, C, IT

A
  • D: IgA
  • M: Recurrent sinopulmonary infection
  • MP: Lack mucosal IgA
  • C: At risk of transfusion reaction Increased risk of atopic and autoimmune conditions
  • IT: Antibiotics for infection