Patients with XLA will require lifelong
replacement therapies in order to replace immunoglobulin (Ig). Administering monthly
intravenous Ig (IVIg) or weekly subcutaneous immunoglobulins (SCIg) will result
in an improved clinical status with a decrease in serious infections such as pneumonia,
meningitis and GI tract infections, studies have shown that administering equal
amounts of IVIg and SCIg will yield a better immunological response .Long term
Ig replacement therapy will reduce the incidence and severity of infections as
well as prevent complications in organ function. Trough IgG levels should
remain with normal limits (i.e. 5-6 g/L) this is the minimum target level that
is recommended however studies show that these levels should be individualised (Jolles, et al., 2014) (Kumar & Clark,
2005) . This method however is partially effective and is sometimes associated
with long term complications. (Kerns, et al., 2010)
Over the past few years the development
of gene therapy through the transfer of hematopoietic stem cell transplantation
(HSCT) could represent an alternative strategy for the treatment of Bruton’s disease.
This is done by replacing the patient’s hematopoietic stem cells (HSCs) that
have the pathogenic mutation with HSCs from a healthy donor. This is only
successful if the stem cell donor is well matched, ideally this should be a
sibling or a close family member. Gene editing is another method that has been
developed that can correct the pathogenic causing gene whereby it could be
repaired in its native chromosomal site or a new copy of the gene is directly
inserted into the impaired gene. This results in either the gene being turned
off of being disrupted and so restore normal genetic function.
Aggressive treatment such as higher
doses and longer courses of antibiotics maybe required in order to manage bacterial
infections experienced by the patient and thus prevent long term complications (Chin,
Jyonouchi, Oleske, & Windle, 2014). Antibiotics such as
amoxicillin and amoxicillin/ clavulanate can be used for sinopulmonary infections.
Ceftriaxone, Vancomycin and Cefotaxime can be used to eradicate streptococcus
pneumococcus infections (Schwartz, et al., 2017).