Primary Immunodeficiency Disorders Flashcards
(25 cards)
What is the issue in Common Variable Immunodeficiency (CVID)?
B cells are present in normal # but they do not make sufficient amounts of Ig: Decreased amount of all Ig subtypes
also a decreased response to stimulation of B Cells
How does CVID present?
Recurrent sinopulmonary infections in adults: bronchitis, pneumonia, sinusitis and otitis media, Giardiasis, spruelike intestinal malabsorption
What autoimmune diseases are increased with CVID?
Pernicious anemia and rheumatoid diseases
How is CVID diagnosed?
Ig lab levels are all low: low IgG, low IgA, low IgM
How do you treat CVID?
Abx for each infection
Chronic maintenance with IVIG
What is X-linked (Bruton) Agammaglobulinemia?
Male children with increased sinopulmonary infections: b cells and lymphoid tissues are decreased: tonsils, adenoids, nodes and spleen
T cells are normal
How do you treat X-linked (Bruton) Agammaglobulinemia?
Manage infections as they arise
Long-term regular IVIG
What is severe combined immunodeficiency (SCID)?
deficiency in both B and T Cells resulting in infection from both
-B cell: decreased Ig = recurrent sinopulm infections as early as 6 mo
-T Cell: many of the infections you would see in AIDS paitients
How is SCID managed?
Treat infections as they arise
Bone marrow transplant: Can be curative
How does IgA Deficiency Present?
recurrent sinopulmonary infections
Atopic Diseases
Anaphylaxis to blood products
Spruelike illness with fat malabsorption
Increased risk of Vitiligo, Thyroiditis and RA
How do you manage IgA Deficiency?
Blood from IgA-Deficient donors
Why doesn’t IVIG work in IgA Deficiency?
it may trigger anaphylaxis from even small contents of IgA
How does Hyper IgE Syndrome Present?
Recurrent skin infections with Staphylococcus
How do you treat infections in Hyper IgE syndrome?
Dicloxacillin or Cephalexin prophylactically
What is Wiskott-Aldrich Syndrome?
Immunodeficiency combined with Thrombocytopenia and Eczema
T Lymphocytes are markedly deficient in the blood and nodes
What is the only definitive treatment for Wiskott-Aldrich Syndrome?
Bone marrow transplant
What is Chronic Granulomatous Disease (CGD)?
Genetic disease resulting in extensive inflammatory reactions leading to nodes with purulent material leaking out
What are common symptoms seen in CGD?
Aphthous ulcers and inflammation of the nares
Granulomas may be obstructive in GI or urinary tract
What infectious organisms are commonly associated with CGD?
Staphylococcus
Burkholderia
Nocardia
Aspergillus
How do you diagnose CGD?
Abnormal results of Nitroblue tetrazolium testing or dihydrorhodamine testing that detect the decrease in respiratory burst which produces hydrogen peroxide
What Enzyme is deficient in CGD?
NADPH oxidase: generates superoxid e
What is seen in Leukocyte Adhesion Deficiency?
Massively elevated WBC: 50,000
Soft tissue infections without pus: Peridontitis, Gingivitis
What is seen in DiGeorge syndrome?
Low T Cells
What is seen in Chediak-Higashi Syndrome?
Neutropenia
Bactericidal dysfunction
serotonin and platelet defect
albinism and staph infections of the lungs and skin
