Good question

[Unregistered101]

An 8 month old baby presents with repeated episodes of pneumococcal pneumonia. He also presents with very low levels of IgM, IgG and IgA. His blood cells demonstrate a near absence of CD19+ cells, although levels of CD4+ and CD56+ cells are within normal limits. A bone marrow exam reveals a high number of cells without surface IgM molecules. What does pt have? This pt's condition is related to a deficiency of a an enzyme. Name it?



















































This pt have X-linked bruton agammaglobulinemia which is due to a deficiency in a tyrosine kinase, leading to a B cell maturation arrest at the pre-B cell level.

[IMG SURVIVOR]

some followup questions:


1-I know that IgM deficiency is Waldestron macroglobulenemia, and also has low IgM eczema and throbocytosis, but how can you diferiantiate it from Burton?


2- Why the baby will start having signs and symptons by 6 months?

[Unregistered101]

1-I know that IgM deficiency is Waldestron macroglobulenemia, and also has low IgM eczema and throbocytosis, but how can you diferiantiate it from Burton?
Waldenström macroglobulinemia is a rare malignancy of B lymphocytes characterized by excessive production of monoclonal IgM. Symptoms and signs are due to the elevated serum viscosity (from the IgM) and infiltration of organs (bone marrow, spleen, liver, lymph nodes) from the neoplastic lymphocytes. The disease most commonly occurs in the elderly; median age at onset is approximately 60 years.
Pts with Bruton presents with early onset of recurrent infections, profound hypogammaglobulinemia, and markedly reduced or absent B cells, greater than 90 percent have loss-of-function mutations in an Src family tyrosine kinase gene named Bruton tyrosine kinaseThis severe blockage results in an almost complete absence of B cells in the periphery. With their consequent paucity of plasma cells, these patients usually produce very little immunoglobulin. T cell function appears to be normal in that delayed-type hypersensitivity, contact hypersensitivity, and homograft rejection are intact

2- Why the baby will start having signs and symptons by 6 months? The baby still has protection from the IgG antibodies from the mother. IgG antibodies are the only antibodies able to cross the placenta. It will take this long for the baby to start producing its own immune protection.