FACULTY OF MEDICINE AND HEALTH SCIENCES SEMESTER III 2013/2014 HFS 3173 (IMMUNOLOGY) ASSIGNMENT

Title of Assignment: B Cells Deficiency Disorder Date of Submission: 10/ 11/ 2013 Lecturers Name Students Name : Miss Norhidayah Bt Badya

: Nur Amalina Binti Hamdan (032395)

B-Cell Deficiency Disorder

Brutons agammaglobulinemia or also known as X-linked agammaglobulinemia is one of the diseases that can occur due to B-Cell deficiency disorder. The disease can be inherited by X-linked recessive where there are defects in the Brutons tyrosine kinase (BTK) gene in the X chromosome. So, women are usually the carrier of the disease since they carry a mutant allele on one of the X chromosome, but for male offspring that inherit the mutant allele are affected by the disease. The BTK is crucial in the process of maturation of pre-B cells to differentiate into mature B-cells. Due to the mutation in B-cell tyrosine kinase, the maturation beyond pre-B cells is blocked. This will cause all the serum Ig isotypes to decrease and number of B-cell will be reduced. The mutation in the BTK will also result in defective production or function of the enzyme. Individuals who are affected by the disease are will undergo drastic decrease in immunoglobulin levels and in number of B-cells which can lead to increased susceptibility to infection and to encapsulated bacteria like influenza, staphylococci and streptococci. The disease can be diagnosed only via screening tests that measure immunoglobulin levels or the number of B cell in the blood. The common symptoms that come about are ear infections, sinusitis, pneumonia and diarrhea due to a parasite called Giardia. For this disease, there is no specific cure but can only overcome the condition or complications successfully. One of the treatments for the Xlinked agammaglobulin is via antibody replacement. It is done by gamma globulin therapy where the patient will receive immunoglobulin intravenously into the bloodstream (IVIG). It is a life-long and life-saving treatment that restores some of the missing antibodies. This will protect them from infections. Another treatment is prompt treatment of infections by taking antibiotics prophylactically to prevent or treat infections. Lastly is by avoidance of live viral vaccinations like measles, mumps, rubella (MMR) and chicken pox (varicella) to prevent them from getting the illness. By getting the vaccinations, they will not be easily exposed to that kind of disease. Those individuals who receive immunoglobulin on a normal basis can have rather normal lives.

REFERENCE
1.

Abbas A. K. and Lichtman A. H., 2009. Basic Immunology Functions and Disorders of the Immune System. 3rd. ed. Philadelphia: Saunders Elsevier.

2.

American

Academy

of

Allergy

Asthma

&

Immunology,

2013.

X-Linked

Agammaglobulinemia (XLA). Downloaded from http://www.aaaai.org/conditions-andtreatments/primary-immunodeficiency-disease/x-linked-agammaglobulinemia.aspx

3.

Doan T., Melvold R. and Waltenbaugh C, 2005. Concise Medical Immunology. United States: Lippincott Williams & Wilkins. Schwartz R. et al, 2013. Brutons Agammagobulinemia. Downloaded from

4.

http://emedicine.medscape.com/article/1050956-overview
5.

University Rochester Medical Centre, n.d. X-linked Agammaglobulinemia. Downloaded from http://www.urmc.rochester.edu/Encyclopedia/Content.aspx?ContentTypeID=90&ContentID= P01666