Primary Immunodeficiencies Flashcards
Molecular defect of chronic granulomatous disease
Deficiency of NADPH oxidase.
Failure to generate superoxide anion, other O2 radicals
Molecular defect of Leukocyte adhesion deficiency
Absence of CD18 - common B chain of the leukocyte integrins.
Integrins that contain CD18
LFA-1
MAC-1
gp150/95
Molecular defect of Chediak-Higashi syndrome
Nonsense mutation in the lysososmal trafficking regulator, CHS1/LYST protein, leads to aberrant fusion of vesicles
Molecular defect of G6PD deficiency
Deficiency in glucose-6-phosphate dehydrogenase; essential enzyme in hexose monophosphate shunt
Molecular defect of myeloperoxidase deficiency
defect in MPO affects the ability to convert hydrongen peroxide to hypochlorite
Molecular defect of hyperimmunoglobulin E syndrome (formerly Job syndrome)
Defects in JAK-STAT signaling pathway leading to impaired Th17 function: decreased IFN-gamma production
Defects of phagocytic cells
Chronic granulomatous disease Leukocyte adhesin deficiency Chediak-Higashi syndrome Glucose-6-phosphate dehydrogenase deficiency Myeloperoxidase deficiency Hyperimmunoglobulin E syndrome
Symptoms of CGD
Recurrent infections with catalase-positive bacteria and fungi
Symptoms of leukocyte adhesion deficiency
Recurrent and chronic infections, failure to form pus, and delayed separation of umbilical cord stump.
Symptoms of Chediak-Higashi syndrome
Recurrent infection with bacteria: chemotactic and degranulation defects; absent NK activity, partial albinism
Symptoms of G6PD deficiency
Recurrent infections with catalase-positive bacteria and fungi with associated anemia
Symptoms of myeloperoxidase deficiency
mild or none
Symptoms of hyperimmunoglobulin E syndrome
Characteristic facies, severe, recurrent, sinopulmonary infections, pathologic bone fractures, retention of primary teeth, increased IgE, eczematous rash
Defects of humoral immunity
Bruton (X-linked) agammaglobulinemia X-linked hyper-IgM syndrome Selective IgA deficiency Common variable Immunodeficiency Transient hypogammaglobulinemia of infancy
Molecular defect of Bruton agammaglobulinemia
Deficiency of Bruton tyrosine kinase (btk) which promotes pre-B cell expansion; faulty B-cell development
Molecular defect of X-linked hyper-IgM syndrome
Deficiency of CD40L on activated T cells
Symptoms of Selective IgA deficiency
Decreased IgA leves, with normal IgM and IgG with elevation of IgE. Repeated sinopulmonary and gastrointestinal infections, increased atopy
Symptoms of common variable immunodeficiency
Onsets in late teens, early twenties; B cells present in peripheral blood, immunoglobulin levels decrease with time; increased autoimmunity
Selective T-cell deficiency
DiGeorge Syndrome MHC class I deficiency
Combined partial B and T cell deficiency
Wiskott-Aldrich syndrome
Ataxia telangiectasia
Complete functional B and T cell deficiency
Severe combined immunodeficiency Bare lymphocyte syndrome/MHC class II deficiency
Defect in DiGeorge syndrome
Heterozygous deletion of chromosome 22q11; failure of formation of 3rd and 4th pharyngeal pouches, thymic aplasia
Defect of MHC class I deficiency
Failure of TAP 1 molecules to transport peptides to endoplasmic reticulum
Signs of deficiency in the MAC
Recurrent meningococcal and gonococcal infections
deficiency in hereditary angioedema
C1-INH
