Immuno 1: Disease and Lab Diagnosis

inherited immunodeficiency may be referred to:

primary

acquired immunodeficiency may be referred to:

secondary

AIDS, malignancies, and immunosuppressive drugs are examples of ____ immunodeficiency.

secondary

_____ indicates that a part of the immune system is missing or dysfunctional.

immunodeficiency 

____ immune deficiency diseases results from genetic defects such as:

• lymphoid cells

• phagocytic cells

• regulatory molecules

• complement proteins

primary

primary or secondary immunodeficiency: genetic, child born with defect?

primary

primary or secondary immunodeficiency: at least 58% cases diagnosed in children <15 years old?

primary

primary or secondary immunodeficiency: vast majority are 83% males X-linked recessive, autosomal recessive, autosomal dominant, and sporadic inheritance patterns are involved?

primary

primary or secondary immunodeficiency: acquired, transient/permanent diseases?

secondary

primary or secondary immunodeficiency: protein caloric, malnutrition chemo, irradiation, malignancies, and immunosuppression?

secondary 

the following are elements of the _____ that may be compromised in immunodeficiency:

• BM precursor stem cells

• blood cells (lymphs, neuts, monos)

• soluble molecules (antibodies, cytokines, complement components)

immune system

the following describes defects in ____ immunity:

• results in pyogenic bacterial infections (staph. aureus, H. flu, pneumococcus)

  • particularly of the upper and lower respiratory tract, GI malabsorption, slow growth, recurrent otitis media, sinusitis, and pneumonia

humoral

the following describes defects in ____ immunity:

• results in recurrent infections with intracellular pathogens such as viruses, fungi (commonly Candida), and intracellular bacteria

• patients are prone to disseminated viral infections, especially with latent viruses (e.g., herpes simplex, varicella zoster, CMV)

• more susceptible to developing certain cancer types

t cell mediated 

the following describes defects in ____ immunity:

• neutrophils must adhere to vascular endothelial lining cells, migrate through capillary wall to a site of infection, and ingest and kill microbes

  • defects affecting each of these steps can lead to an increased susceptibility to pyogenic infections

phagocytic 

the following describes defects in ____:

• results in pyogenic infections

  • recurrent Neisseria infections 

  • rheumatic and connective tissue diseases

complement

____ normally produces inflammatory molecules and lysis of organisms.

complement

disorders of ____ immunity refer to B cell differentiation and antibody production.

humoral 

the onset of disorders of ____ immunity are after 6 months of age and can present in adulthood.

humoral

the onset of ____ disorders immunity is before 6 months of age.

t cell and mixed

the onset of ____ disorders immunity are in infancy or childhood.

phagocytic

the onset of ____ disorders immunity are in any age.

complement 

the following patterns of infection are associated with ____ immunity disorders:

• encapsulated bacteria

• fungi and parasites: Giardia lamblia, Cryptosporidium species

• virus: enterovirus

humoral

the following patterns of infection are associated with ____ disorders:

• various opportunistic infections:

  • Mycobacterium species

  • cytomegalovirus

  • EBV

  • varicella virus

  • enterovirus

  • Candida species

  • Pneumocystic carinii (pneumonia)

t cell and mixed

the following patterns of infection are associated with ____ disorders:

• bacteria: staphylococcus aureus

• fungi and parasites: Candida species, Nocardia species, Aspergillus species

phagocytic

the following patterns of infection are associated with ____ disorders:

• Neisseria infections

  • meningococcal and gonococcal infections

complement

the following features are associated with ____ immunity disorders:

• recurrent infections: sinus infections, otitis media, bronchiectasis 

• chronic GI tract problems: malabsorption, autoimmunity

humoral 

the following features are associated with ____ disorders:

• failure to thrive

• oral thrush

• GVHD from maternal lymphocytes

• excess diarrhea

t cell and mixed

the following features are associated with ____ disorders:

• unusually severe infections by common pathogens

• granuloma formation

• poor wound healing

• abscesses, skin infection

• oral cavity infections

phagocytic

the following features are associated with ____ disorders:

• rheumatoid disorders

• lupus-like syndrome

• scleroderma

complement 

which category of primary immune deficiency diseases (PIDs) refers to predominantly antibody deficiencies?

3

which condition lacks circulating mature CD19 positive B cells with no plasma cells?

bruton’s agammaglobulinemia

bruton’s agammaglobulinemia can be differentiated from transient hypogammaglobulinemia of infancy by the absence of _____ positive B cells in the peripheral blood.

CD19

what condition exhibits a deficiency or lack of all immunoglobulins of all classes?

bruton’s agammaglobulinemia

what type of cell immunodeficiency is bruton’s agammaglobulinemia?

B cell

what condition refers to patients having no plasma cells in their lymphoid tissues, but they have pre-B cells in their bone marrow?

bruton’s agammaglobulinemia

what condition refers to a recurrent sinopulmonary infection by encapsulated organisms (e.g., Streptococcus pneumoniae and Haemophilus influenzae) bacterial otitis media?

bruton’s agammaglobulinemia

in bruton’s agammaglobulinemia, what cells are normal in number and function?

T cells

in what condition may patients develop recurrent bacterial infections beginning of infancy as the maternal antibody is cleared?

bruton’s agammaglobulinemia

in bruton’s agammaglobulinemia, the lack of the ____ enzyme causes a failure of Vh gene rearrangement.

Btk

bruton’s agammaglobulinemia is treated with IM or IV IG. true or false?

true

most patients with IgA deficiency are symptomatic. true or false?

false

which condition may be associated with the following symptoms:

• sino-pulmonary infections

• GI infections

• allergies

• increased tendency to autoimmune diseases (SLE, RA, immune thrombocytopenia)

IgA deficiency

allergic disorders and malignancies are more common among ____ patients.

IgA deficiency

impaired differentiation of B cells to become IgA producing plasma cells is associated with which condition?

IgA deficiency

IgA deficiency patients must only receive plasma products from other IgA deficient patients. true or false?

true

why do IgA deficiency patients only receive plasma products from other IgA deficient patients?

possible anaphylactic reaction

why are patients with IgA deficiency not given transfusion of gamma globulins or other protein containing blood components?

possible anaphylactic reaction

IgA (IM or IV) has a very long half-life. true or false?

false

____ is unable to be transported to secretory sites (mucosal surfaces) due to their short half-life.

IgA

antibiotics may be used to treat IgA deficiency. true or false?

true

what is the most common PID with a severe clinical syndrome that requires medical attention?

CVID

what condition is associated with the following characteristics:

• slow decline in more than one class of immunoglobulins

• sinopulmonary infections (usually bacterial origin) beginning in adolescence 

• increased episode of pneumonia

• increased risk in autoimmune diseases

CVID

what condition is associated with history of recurrent otitis media in childhood?

CVID

what condition is associated with the following characteristics:

• normal numbers of mature B cells 

  • inability to become memory B cells (CD27+) and plasma cells 

  • decreased activation of B cells in germinal centers

CVID

CVID is primarily ____ deficient and demonstrate marked decrease in IgG levels due to certain subclasses.

IgA

in CVID, ____ often leads to recurrent bacterial infections, particularly sinusitis and pneumonia.

hypogammaglobulinemia

what is the most common genetic susceptibility locus for CVID?

MHC

what condition is diagnosed when patients with recurrent bacterial infections demonstrate low serum immunoglobulin levels?

CVID

in CVID, there is a lack or decrease in the levels of blood group ____.

isohemagglutinins

what condition refers to when one or more levels of the 4 IgG subclasses lower than the RI?

isolated IgG subclass deficiency

in isolated IgG subclass deficiency, normally about ____% of the total IgG is IgG1, 23% IgG2, 7% IgG3, and 4% IgG4

66%

in patients with isolated IgG subclass deficiency with ____, levels of different subclasses should be measured if the total IgG level is normal, but the clinical picture suggests immunoglobulin deficiency.

recurrent infections 

_____ deficiencies refers to defects in both humoral (B cell) and cell mediated (T cell) immunity can be caused by mutations in any of several genes:

• defect that affects development of both types of lymphocytes

• defective interaction between two limbs of immune system

combined

____ deficiencies are referred to using a shorthand of T^+/-/B^+/-/NK^+/-, with the superscript ^+/- denoting whether each cell type is deficient.

combined 

what refers to the most severe of the congenital immune deficiencies?

SCID

what conditions refers to a group of related diseases that affect T and B cell function with differing etiologies?

SCID

x-linked SCID is the most rare form of the disease. true or false?

false 

the most frequent mutation of SCID is in the ____ gene (located on the X chromosome, root cause of most SCID).

IL2RG

what gene encodes common gamma chain?

IL2RG

what refers to a cytokine receptor subunit that is common to the receptor complexes for at least 6 different interleukin receptors: IL-2, IL-4, IL-7, IL-9, IL-15, and IL-21 receptor?

common gamma chain

when the IL2RG gene encodes the common gamma chain, ____ maturation is halted due to defective cytokine signaling.

lymphocyte

____ is most commonly expressed in T cells and NK cells.

JAK3

what is required for processing an interleukin-binding signal from the cell membrane to the nucleus?

JAK3

what is involved in signal transduction by receptors that employ the common gamma chain (yc)?

JAK3

JAK3 deficiency can cause an autosomal ____ disease with the T^-B⁺NK^- phenotype.

SCID

about 15-20% of SICD patients have an adenosine deaminase (ADA) deficiency, leading to the ____ phenotype.

T^-B^-NK^- 

what gene is located on chromosome 1, region q21?

ADA

what deficiency affects an enzymes involved in the metabolism of purines?

ADA

what deficiency is similar to another form of PID (PNP deficiency) due to the effects on enzyme involvement in purine metabolism?

ADA

in____ deficiency, toxic metabolites of purines accumulate in lymphoid cells and impair proliferation of both B and T cells.

ADA

in both ADA and PNP deficiency, there is a progressive decrease in _____ numbers.

lymphocyte

RAG-1 or RAG-2 (recombinase-activating) gene deficiency lack both T cells and B cells but have functioning ____.

NK cells

RAG-1 or RAG-2 (recombinase-activating) gene deficiency has profound lymphocytopenia (elimination of B and T cell precursors during development. true or false?

true

in RAG-1 or RAG-2 (recombinase-activating) gene deficiency, there is increased MHC-II molecule expression. true or false?

false

in RAG-1 or RAG-2 (recombinase-activating) gene deficiency, a mutation in the pan-leukocyte antigen ____ may result in a transmembrane phosphate that regulates signal transduction of T and B cell receptors.

CD45