Treatment with Interferon-A showed a good response. The lymph node's liver's and spleen's biopsy as well as immunologic and immunohistochemical investigation are compatible with polyclonal B-Lymphoid hyperplasia a complication seen usualy during the second decade of life. Three years after initial diagnosis the boy was admitted because of rapid worsening of lymphadenopathy, severe hepatosplenomegaly prolonged fever and significant increase in serum IgM. With the diagnosis of hyper-IgM syndrome treatment with regular infusion of intravenous gamma globulin and granulocyte colony-stimulating factor (G-CSF) was started. X-linked Hyper IgM syndrome (HIGM Type I) is a combined immunodeficiency that is characterized by antibody deficiency (elevated IgM but low IgG and low IgA. The most common (and the most clinically severe) of these is an X-linked deficiency in CD40 ligand (CD40L). We describe the case of a boy, age 6,5 years old who came at age 3 because of neutropenia and cervical adenitis, when the investigation revealed low levels of serum IgG and IgA and elevated IgM. Hyper-IgM syndrome, which is characterized by the presence of normal or elevated serum levels of IgM and low IgG and IgA, may be caused by one of at least 10 gene defects ( Table 17.3 ). The most common form of Hyper IgM syndrome is found only in males, but less common forms. Hyper Immunoglobulin M syndrome (HIGM) is a rare primary immunodeficiency disorder characterized by low or absent levels of serum IgG, IgA, IgE and normal. This happens because the patient’s T cells and B cellsboth types of immune cellsdon’t cooperate. The most common clinical manifestatious include recurrent bacterial infections, lymphoid hyperplasia and autoimmune disorders the most frequent of which is reccurent neutropenia. Patients with Hyper IgM syndrome have elevated levels of serum IgM immunoglobulins and reduced levels of IgG and IgA immunoglobulins in their blood.
Inheritance: X-Linked recessive Gene: CD40L Protein: CD40L Tests: CD40L Gene Sequencing. Hyper IgM syndromes comprise a group of primary immune deficiency disorders that are associated with elevated immunoglobulin M (IgM) and too little of other. Immunodeficiency with Hyper-IgM (HIM) is a rare primary or secondary disorder characterized by very low serum IgG and IgA but either a normal or, more frequently, markedly elevated concentration of IgM. Hyper IgM Syndrome, X-linked (XHIM) CD40L Deficiency.