Patient was diagnosed with x-linked agammaglobulinemia leading to recurrent bacterial
infections. Patient was determined by DNA sequencing to have a nonsense mutation in the btk
gene on his X chromosome resulting in premature truncation of the Bruton’s tyrosine kinase
(BTK) protein. This mutation has been previously reported in patients with susceptibility to
bacterial infections resulting in recurrent infection. Mother is heterozygous for the mutation and
received genetic counseling in case they decide to have additional offspring as ~50% of male
children will have similar disease, and 50% of daughters will be asymptomatic carriers. How
would you treat this patient? What are some possible side effects associated with this treatment?
Do the pros outweigh the cons? Please be specific.
Solution
There is 30-50% chance of XLA patients having a positive family history of genetic inheritance.
The rest of the cases occur as random mutations. XLA diagnosis usually begins due to a history
of recurrent infections, mostly in the respiratory tract, through childhood. This is due to humoral
immunodeficiency. The most common treatment for XLA is an intravenous infusion of
immunoglobulin (IVIg, human IgG antibodies) every 3–4 weeks, for life. IVIg is a human
product extracted and pooled from thousands of blood donations. IVIg does not cure XLA but
increases the patient\'s lifespan and quality of life, by generating passive immunity, and boosting
the immune system. With treatment, the number and severity of infections is reduced. With IVIg,
XLA patients may live a relatively healthy life. A patient should attempt reaching a state where
his IgG blood count exceeds 800 mg/kg. The dose is based on the patient\'s weight and IgG
blood-count. Antibiotics are another common supplementary treatment. Local antibiotic
treatment are preferred over systemic treatment (pills) for long-term treatment, if possible.One of
the future prospects of XLA treatment is gene therapy, which could potentially cure XLA. Gene
therapy technology is still in its infancy and may cause severe complications such as cancer and
even death. XLA patients are specifically susceptible to viruses of the Enterovirus family, and
mostly to: polio virus, coxsackie virus and Echoviruses. These may cause severe central nervous
system conditions as chronic encephalitis, meningitis and death. An experimental anti-viral
agent, pleconaril, is active against picornaviruses. XLA patients, however, are apparently
immune to the Epstein-Barr virus (EBV), as they lack mature B cells needed for the viral
infection. Patients with XLA are also more likely to have a history of septic arthritis.
Agammaglobulinemia (XLA) is similar to the primary immunodeficiency and their clinical
conditions and treatment are almost identical..
Patient was diagnosed with x-linked agammaglobulinemia leading to re.pdf
1. Patient was diagnosed with x-linked agammaglobulinemia leading to recurrent bacterial
infections. Patient was determined by DNA sequencing to have a nonsense mutation in the btk
gene on his X chromosome resulting in premature truncation of the Bruton’s tyrosine kinase
(BTK) protein. This mutation has been previously reported in patients with susceptibility to
bacterial infections resulting in recurrent infection. Mother is heterozygous for the mutation and
received genetic counseling in case they decide to have additional offspring as ~50% of male
children will have similar disease, and 50% of daughters will be asymptomatic carriers. How
would you treat this patient? What are some possible side effects associated with this treatment?
Do the pros outweigh the cons? Please be specific.
Solution
There is 30-50% chance of XLA patients having a positive family history of genetic inheritance.
The rest of the cases occur as random mutations. XLA diagnosis usually begins due to a history
of recurrent infections, mostly in the respiratory tract, through childhood. This is due to humoral
immunodeficiency. The most common treatment for XLA is an intravenous infusion of
immunoglobulin (IVIg, human IgG antibodies) every 3–4 weeks, for life. IVIg is a human
product extracted and pooled from thousands of blood donations. IVIg does not cure XLA but
increases the patient's lifespan and quality of life, by generating passive immunity, and boosting
the immune system. With treatment, the number and severity of infections is reduced. With IVIg,
XLA patients may live a relatively healthy life. A patient should attempt reaching a state where
his IgG blood count exceeds 800 mg/kg. The dose is based on the patient's weight and IgG
blood-count. Antibiotics are another common supplementary treatment. Local antibiotic
treatment are preferred over systemic treatment (pills) for long-term treatment, if possible.One of
the future prospects of XLA treatment is gene therapy, which could potentially cure XLA. Gene
therapy technology is still in its infancy and may cause severe complications such as cancer and
even death. XLA patients are specifically susceptible to viruses of the Enterovirus family, and
mostly to: polio virus, coxsackie virus and Echoviruses. These may cause severe central nervous
system conditions as chronic encephalitis, meningitis and death. An experimental anti-viral
agent, pleconaril, is active against picornaviruses. XLA patients, however, are apparently
immune to the Epstein-Barr virus (EBV), as they lack mature B cells needed for the viral
infection. Patients with XLA are also more likely to have a history of septic arthritis.
Agammaglobulinemia (XLA) is similar to the primary immunodeficiency and their clinical
conditions and treatment are almost identical.
