Primary Immunodeficiencies Flashcards
Defects in neutrophil NADPH oxidase system produce:
a. chronic granulomatous disease
b. Chediak-Higashi disease
c. leukocyte adhesion deficiency
d. Hashimoto’s disease
e. streptococcal infection
a. chronic granulomatous disease
RAG-1 gene deficiency is a cause of which of the following immunodeficiency diseases?
a. X-linked Hyper IgM syndrome
b. severe combined immunodeficiency (SCID)
c. X-linked agammaglobulinemia (XLA)
d. chronic granulomatous disease (CGD)
e. leukocyte adhesion deficiency (LAD)
b. severe combined immunodeficiency (SCID)
RAG-1 and RAG-2 form the V-D-J recombinase that is required for antigen receptor expression and B and T cell development, and deficiency in either RAG protein results in a complete absence of adaptive immunity, i.e. SCID. There are many other causes of SCID, some of which have less complete loss of either T cell or B cell mediated immunity. The X-linked Hyper IgM syndrome is caused by CD40 ligand deficiency; X-linked agammaglobulinemia is caused by Brutons’s PTK deficiency; Chronic granulomatous disease is caused by deficiencies in components of phagocyte oxidase; Leukocyte adhesion deficiencies are caused by lack of leukocyte integrins or ability to synthesize selectin ligands.
A lymph node biopsy from a young boy with X-linked agammaglobulinemia is expected to show which of the following histologic features?
a. marked perivascular lymphocytic infiltrate
b. abundant polymorphonuclear inflammation
c. reduced follicles and germinal centers
d. nearly absent parafollicular cortical regions
e. enlarged follicles
c. reduced follicles and germinal centers
X-linked agammaglobulinemia, or Bruton’s agammaglobulinemia, is an immunodeficiency disease characterized by a block in early B cell maturation and absence of serum Ig. As in other B cell deficiencies, morphology of lymphoid tissues is most remarkable for absent or reduced follicles and germinal centers (i.e., the B cell zones). In contrast, T cell deficiencies usually do not affect follicle size, but follicles will lack germinal centers (because of defective T cell help) and there may be reduced parafollicular cortical regions (i.e., the T cell zones).
Which of the following is the most common known primary immunodeficiency, with a prevalence of 1 in 700 white individuals?
a. X-linked agammaglobulinemia
b. selective IgA deficiency
c. common variable immunodeficiency
d. chronic granulomatous disease
e. Chédiak-Higashi syndrome
b. selective IgA deficiency
Selective IgA deficiency is the most common (known) primary immunodeficiency and is believed to affect approximately 1 in 700 white individuals. Most cases occur sporadically. Whereas many patients show no clinical symptoms, others experience occasional respiratory infections and diarrhea. In rare cases, patients present with severe, recurrent infections that lead to permanent intestinal and airway damage, with other associated autoimmune disorders.
Which of the following patients is particularly susceptible to infection with Streptococcus pneumoniae, an encapsulated bacterium?
a. a 23-year-old man with malaise, rash, and diffuse lymphadenopathy one week after infection with human immunodeficiency virus
b. a 54-year-old woman receiving local corticosteroid injections for knee pain
c. a 35-year-old man with Hodgkin’s disease and a deficient delayed-type hypersensitivity (DTH) response to Candida antigen
d. a 6-year-old boy with sickle cell anemia who had a splenectomy
e. a 77-year-old woman on chronic renal dialysis and a strict low-protein diet
d. a 6-year-old boy with sickle cell anemia who had a splenectomy
A patient who has undergone splenectomy, or surgical removal of the spleen, is particularly susceptible to infection with encapsulated bacteria such as Streptococcus pneumoniae. This occurs because the spleen is a major site for the phagocytic clearance of opsonized blood-borne microbes and the production of antibodies specific for T cell-independent polysaccharide antigens found in bacterial capsules.
What are the function of CD40 and CD40 ligand (CD154)?
Interaction between the CD40 molecule on the B cell surface and the CD40 ligand on activated T cells is a potent co-stimulatory signal required for class switching and affinity maturation.
Which disease results from mutations od the Burton tyrosine kinase (BTK) gene?
a. X-linked Hyper IgM syndrome
b. severe combined immunodeficiency (SCID)
c. X-linked agammaglobulinemia (XLA)
d. chronic granulomatous disease (CGD)
e. leukocyte adhesion deficiency (LAD)
c. X-linked agammaglobulinemia (XLA)
Mutation of which gene is NOT associated with the common variable immunodeficiency (CVID)?
a. ICOS-L
b. BAFF-R
c. APRIL
d. BTK
e. TACI
f. HSPG
d. BTK
What is the morphological characteristic of CVID?
The virtual absence of plasma cells in lymphoid tissues and in the bone marrow
Hyper-IgM syndrome is now known as?
Deficiency of CD40L (X linked) or more rarely of CD40 (autosomal recessive) results in failure of CSR, with very low or undetectable levels of IgG, IgA, and IgE and normal levels of IgM. This was also known as hyper-IgM syndrome.
