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Advance Paper in Clinical
Immunology
Combined T and B cells Deficiencies - SCID
Presented By:
Girish Kumar K
III MSc
Biomedical Sciences
• Combined immunodeficiencies are those in which both
cell-mediated immunity and humoral immunity are
impaired.
• The Severe Combined Immunodeficiency (SCID) comes
under such category.
Severe Combined Immunodeficiency
Severe, combined immunodeficiency (SCID) is a group of
heterogeneous disorders associated with lack of both T-
and B-cell function.
Babies with SCID can't produce IgG, so once the IgG
from the mother has gone, they easily get the types of
infections that antibodies are not good at preventing
SCID is often called “bubble boy disease”. SCID became widely known
during the 1970′s and 80′s, when the world learned of David Vetter, a boy
with X-linked SCID, who lived for 12 years in a plastic, germ-free
bubble.
SCID is classified into two, based on the predominant arm
of immunity impacted.
I. Arrest in T cells with normal B cell numbers [T(-),
B(+) SCID]
II. Arrest of both T and B cell development [T(-), B(-)
SCID]
• Most forms are due to an inheritable disorder, which can be
inherited as an X-linked recessive form or as an autosomal
recessive form.
Pathogenic Mechanism Of SCID
There are several pathogenic mechanisms in SCID.
• First, defects in cytokine receptors, which result in impaired
T-cell signal transduction pathways triggered by the cytokine
receptors and lack of T-cell differentiation within the thymus.
• Second, there are defects impacting the differentiation of
lymphoid progenitor cells, most commonly due to mutations
in the recombinase-activating genes (RAG).
• A third form of SCID occurs due to defects in the T cell
receptor (TCR) signalling cascade either in the TCR/CD3
complex.
• Defects due to abnormal enzymes involved in purine
metabolism lead to the accumulation of intracellular toxins that
block T- and B-cell differentiation.
• Defective expression of MHC class I and MHC class II leads
to impaired intrathymic development of CD8 and CD4 T cells,
respectively.
Deficiencies of Cytokine Receptors
• The most common form of SCID is X-linked, due to a
mutation in the gamma chain of the IL-2 receptor.
• Children with SCID secondary to IL-2R(gamma chain) or
JAK(Janus Kinase)-3 deficiency have no circulating mature
CD3⁺ T cells because of maturation arrest of T-cell
development within the thymus.
• B cells are present in normal or increased numbers but are
deficient in function, presumably due to a lack of T helper cell
function.
• Natural killing (NK) cell numbers and function are also
deficient.
•IL-7 receptor ἀ chain deficiency results in lack
of T-cell differentiation, proving the key role of
IL-7 in human T-cell differentiation.
Deficiencies of Purine Salvage Enzymes
• The most common of these disorders are adenosine
deaminase (ADA) and purine nucleoside phosphorylase
deficiencies.
• Both lead to the intracellular accumulation of metabolites with
toxic effects on T cells.
• ADA catabolizes the deamination of adenosine and 2-
deoxyadenosine, converting these compounds into inosine.
Therefore, the lack of ADA causes the intracellular
accumulation of adenosine and 2-deoxyadenosine.
• Purine nucleotide phosphorylase deficiency causes an
accumulation of deoxyguanosine, which is triphosphorylated to
deoxy guanosine triphosphate (deoxyGTP).
• DeoxyGTP has toxic effects on T lymphocytes, causing their
selective depletion.
Clinical Presentation
• Children with SCID may develop infections caused by
organisms or vaccines.
• Among the most dangerous is an organism called
Pneumocystis jiroveci, which can cause a rapidly fatal
pneumonia if not diagnosed and treated promptly.
• Another dangerous organism is the chicken pox virus
(varicella). In the patient with SCID, chicken pox can be fatal
because it does not resolve and can progress to cause
infection in the lungs, liver and brain.
• Cytomegalovirus (CMV), which nearly all people carry in their
salivary glands, may cause fatal pneumonia in patients with
SCID
• Other dangerous viruses for patients with SCID are the cold sore
virus (Herpes simplex), adenovirus, para influenza 3, Epstein-Barr
virus polioviruses, measles virus (rubella) and rotavirus.
• Fungal (yeast) infections in patients with SCID may be very
difficult to treats such as oral thrush.
• Candida pneumonia, abscesses, esophageal infection or even
meningitis may develop in patients with SCID.
• Persistent diarrhea, resulting in growth failure or mal absorption,
is a common problem in children with SCID.
• Patients with SCID may also have a rash that is mistakenly
diagnosed as eczema, but is actually caused by a reaction of
the mother’s T-cells (that entered the SCID baby’s circulation
before birth) against the baby’s tissues. This reaction is called
graft-versus-host disease (GVHD).
Diagnosis
• The average lymphocyte count for patients with all types
of SCID is 1,500 lymphocytes (per cubic millimeter)
• The most definitive test to examine the function of the T-
lymphocytes is to place blood lymphocytes in culture
tubes, treat them with various stimulants and then,
incubate them for several days.
• Normal T-lymphocytes react to these stimulants by
undergoing cell division.
• In contrast, lymphocytes from patients with SCID usually
do not react to these stimuli
• The diagnosis of SCID can also be made before the baby is
born.
• This can be done by molecular testing of cells from a
chorionic villus sampling (CVS) or from an amniocentesis,
where a small amount of amniotic fluid (which contains fetal
cells) is removed from the uterine cavity.
Treatment
• Bone marrow transplants may be used to treat certain
immunodeficiency conditions.
• Passive immunity may sometimes be recommended to
prevent illness after you have been exposed to bacteria
or other germs.
• Patients with hypogammaglobulinemia are treated with
immunoglobulin infusions through a vein. These infusions
raise blood immunoglobulin levels and protect against
many infections.
Haematopoietic Stem Cell Transplantation
• All forms of SCID can be corrected with HSC transplantation.
• Best results are with stem cells obtained from an HLA-
matched related donor.
Gene Therapy
• Both the X-linked form of SCID and ADA deficiency have
been corrected by gene therapy.
• The original protocol involved: harvesting peripheral blood T
lymphocytes from the patients, transfecting the ADA gene
using a retrovirus vector, expanding the transfected cells in
culture, and re-administering them to the patient.
Thank
you

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Combined T cells And Bcell Deficiency - SCID

  • 1. Advance Paper in Clinical Immunology Combined T and B cells Deficiencies - SCID Presented By: Girish Kumar K III MSc Biomedical Sciences
  • 2. • Combined immunodeficiencies are those in which both cell-mediated immunity and humoral immunity are impaired. • The Severe Combined Immunodeficiency (SCID) comes under such category. Severe Combined Immunodeficiency Severe, combined immunodeficiency (SCID) is a group of heterogeneous disorders associated with lack of both T- and B-cell function. Babies with SCID can't produce IgG, so once the IgG from the mother has gone, they easily get the types of infections that antibodies are not good at preventing
  • 3. SCID is often called “bubble boy disease”. SCID became widely known during the 1970′s and 80′s, when the world learned of David Vetter, a boy with X-linked SCID, who lived for 12 years in a plastic, germ-free bubble. SCID is classified into two, based on the predominant arm of immunity impacted. I. Arrest in T cells with normal B cell numbers [T(-), B(+) SCID] II. Arrest of both T and B cell development [T(-), B(-) SCID] • Most forms are due to an inheritable disorder, which can be inherited as an X-linked recessive form or as an autosomal recessive form.
  • 4.
  • 5. Pathogenic Mechanism Of SCID There are several pathogenic mechanisms in SCID. • First, defects in cytokine receptors, which result in impaired T-cell signal transduction pathways triggered by the cytokine receptors and lack of T-cell differentiation within the thymus. • Second, there are defects impacting the differentiation of lymphoid progenitor cells, most commonly due to mutations in the recombinase-activating genes (RAG). • A third form of SCID occurs due to defects in the T cell receptor (TCR) signalling cascade either in the TCR/CD3 complex.
  • 6. • Defects due to abnormal enzymes involved in purine metabolism lead to the accumulation of intracellular toxins that block T- and B-cell differentiation. • Defective expression of MHC class I and MHC class II leads to impaired intrathymic development of CD8 and CD4 T cells, respectively.
  • 7. Deficiencies of Cytokine Receptors • The most common form of SCID is X-linked, due to a mutation in the gamma chain of the IL-2 receptor. • Children with SCID secondary to IL-2R(gamma chain) or JAK(Janus Kinase)-3 deficiency have no circulating mature CD3⁺ T cells because of maturation arrest of T-cell development within the thymus. • B cells are present in normal or increased numbers but are deficient in function, presumably due to a lack of T helper cell function. • Natural killing (NK) cell numbers and function are also deficient.
  • 8. •IL-7 receptor ἀ chain deficiency results in lack of T-cell differentiation, proving the key role of IL-7 in human T-cell differentiation.
  • 9. Deficiencies of Purine Salvage Enzymes • The most common of these disorders are adenosine deaminase (ADA) and purine nucleoside phosphorylase deficiencies. • Both lead to the intracellular accumulation of metabolites with toxic effects on T cells. • ADA catabolizes the deamination of adenosine and 2- deoxyadenosine, converting these compounds into inosine. Therefore, the lack of ADA causes the intracellular accumulation of adenosine and 2-deoxyadenosine. • Purine nucleotide phosphorylase deficiency causes an accumulation of deoxyguanosine, which is triphosphorylated to deoxy guanosine triphosphate (deoxyGTP). • DeoxyGTP has toxic effects on T lymphocytes, causing their selective depletion.
  • 10. Clinical Presentation • Children with SCID may develop infections caused by organisms or vaccines. • Among the most dangerous is an organism called Pneumocystis jiroveci, which can cause a rapidly fatal pneumonia if not diagnosed and treated promptly. • Another dangerous organism is the chicken pox virus (varicella). In the patient with SCID, chicken pox can be fatal because it does not resolve and can progress to cause infection in the lungs, liver and brain. • Cytomegalovirus (CMV), which nearly all people carry in their salivary glands, may cause fatal pneumonia in patients with SCID
  • 11. • Other dangerous viruses for patients with SCID are the cold sore virus (Herpes simplex), adenovirus, para influenza 3, Epstein-Barr virus polioviruses, measles virus (rubella) and rotavirus. • Fungal (yeast) infections in patients with SCID may be very difficult to treats such as oral thrush. • Candida pneumonia, abscesses, esophageal infection or even meningitis may develop in patients with SCID. • Persistent diarrhea, resulting in growth failure or mal absorption, is a common problem in children with SCID. • Patients with SCID may also have a rash that is mistakenly diagnosed as eczema, but is actually caused by a reaction of the mother’s T-cells (that entered the SCID baby’s circulation before birth) against the baby’s tissues. This reaction is called graft-versus-host disease (GVHD).
  • 12. Diagnosis • The average lymphocyte count for patients with all types of SCID is 1,500 lymphocytes (per cubic millimeter) • The most definitive test to examine the function of the T- lymphocytes is to place blood lymphocytes in culture tubes, treat them with various stimulants and then, incubate them for several days. • Normal T-lymphocytes react to these stimulants by undergoing cell division. • In contrast, lymphocytes from patients with SCID usually do not react to these stimuli
  • 13. • The diagnosis of SCID can also be made before the baby is born. • This can be done by molecular testing of cells from a chorionic villus sampling (CVS) or from an amniocentesis, where a small amount of amniotic fluid (which contains fetal cells) is removed from the uterine cavity.
  • 14. Treatment • Bone marrow transplants may be used to treat certain immunodeficiency conditions. • Passive immunity may sometimes be recommended to prevent illness after you have been exposed to bacteria or other germs. • Patients with hypogammaglobulinemia are treated with immunoglobulin infusions through a vein. These infusions raise blood immunoglobulin levels and protect against many infections.
  • 15. Haematopoietic Stem Cell Transplantation • All forms of SCID can be corrected with HSC transplantation. • Best results are with stem cells obtained from an HLA- matched related donor. Gene Therapy • Both the X-linked form of SCID and ADA deficiency have been corrected by gene therapy. • The original protocol involved: harvesting peripheral blood T lymphocytes from the patients, transfecting the ADA gene using a retrovirus vector, expanding the transfected cells in culture, and re-administering them to the patient.