Please help me answer the following clinical case questions. Please do not attem

Question

Please help me answer the following clinical case questions. Please do not attempt to answer unless you can answer all questions. Your help is greatly appreciated. Thank you.

A 9-month-old boy presents to clinic with his third episode of otitis media in the last 2 months. His other medical history includes pneumonia at the age of 7 months, for which he was hospitalized. Blood cultures at that time grew Haemophilus influenzae. His growth and physical development have been normal. Family history reveals a male cousin who died at age 14 months from pneumonia. On physical examination, there is no lymphadenopathy, and tonsillar tissue is not visualized. He has a bulging, erythematous tympanic membrane on the left. Lungs and remainder of physical examination are normal. You suspect immune deficiency and perform extensive laboratory workup. Flow cytometry reveals few circulating B-lymphocytes.

The diagnosis is X-linked agammaglobulinemia

1. Why are these children usually well during the first few months of life?

2. Do these children fare badly also toward viral infections? Explain.

3. How is the patient diagnosed? Describe the treatment and prognosis.

4. You start treatment with IVIG? In what deficiency is the patient more prone to develop an anaphylactic reaction in response to the administration of IVIG?

Explanation / Answer

X-linked agammaglobulinemia (XLA ) :

It is an inherited immunodefficiency disease in which the patients lack the ability to produce antibodies, the protein that makeup the gamma globulin or immunoglobulin fraction of blood plasma. It was one of the first immunodefficiency disease to be identified.

1) These childrens are usually well during the first few months of life because they are protected by antibodies acquired before birth from their mother. After few months, the maternal antibodies are cleared from the body, and the affected child begins to develop recurrent infections.

2) No, these childrens are not vulnerable towards viral infections beause infection can usually be prevented with proper treatment.

3) Diagnosis - History of recurrent infections, mostly in respiratory tract, through childhood. The diagnosis is probable when blood test show the complete lack of circulating B- Cells as well as low level of antibodies.

- flow cytometry will usually reveal an absence of BTK (Bruton's Tyrosine Kinase) protein.

- Immunoelectrophoresis ( serum )

- Quantitative immunoglobulins ( IgA, IgG, IgM)

Treatment - 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 XLE but increases the patient's lifespan and quality of life, by gererating passive immunity, and boosting the immune system. with treatment, the no. of severity of infection is reduced.

Antibiotics are another common supplementary treatment. Local antibiotic treatment (drops, lotions) are preffered over systemic treatment (pills) for long term treatment, if possible.

Prognosis - Generally, individuals who have been diagnosed early in their life and with immunoglobulin replacements have a good outlook and are able to lead relatively normal lives.

- Without suitable treatment, infection may develop quickly in an individual with, agammaglobulinemia, which may be fatal.

- There are no restrictions for children to participate in regular activities when they are being treated with immunoglobulin replacements.

4) yes, I have started the treatment with IVIG ( intravenous immunoglobulin). In IgA defficiency the patient is more prone to develop an anaphylactic reaction in response to the administration of IVIG.

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