Objectives: X-LINKED AGAMMAGLOBULINEMIA (XLA) is a primary immunodeficiency disease, characterized by severe hypogammaglobulinemia and the low numbers of peripheral B cells. Neutropenia is a rare complication among the XLA patients, which may lead to a higher rate of infections and morbidity. The aim of the authors is to assess the correctness of this issue. Methods: In this study, we compared demographic, clinical and laboratorial data between two groups of XLA patients, with and without neutropenia. Results: Frequency of neutropenia was 15% in our population. Infectious complications were the most prevalent clinical manifestations, regardless of the presence of neutropenia. However, Lymphoproliferative complication was significantly higher in the neutropenic patients (p = 0. 001). No significant difference in mortality rate was observed between the groups. Conclusion: Neutropenia is a rare complication among the XLA patients, and significantly decreases the mean age of XLA diagnosis in the patients. But it is not related to the higher frequency of infectious diseases in the neutropenic patients compared to non-neutropenic ones.

Background: Autoimmunity is very rare in X-LINKED AGAMMAGLOBULINEMIA (XLA), although it is not common in primary antibody deficiency. Kawasaki, juvenile idiopathic arthritis (JIA) and macrophage activating syndrome (MAS) as presentation of XLA led us to report this case.Case Presentation: Our patient was a 7.5 year old boy with a history of acute flaccid paralysis. The second episode of admission, when he was 3 years old, was due to fever, generalized maculopapular rash, cervical lymphadenopathy, and bilateral non-purulant conjunctivitis (Kawasaki disease). Five months after this episode, he was admitted with prolonged arthritis and fever as a systemic onset JIA case. During 2 years, almost all drugs had been tapered and he was in remission. He was admitted again in PICU with fever, dyspnea, and pancytopenia. After some paraclinical evaluation, he was treated with IVIg and metylprednisolon plus therapy with MAS diagnosis.Similar episode plus myocarditis was repeated after 9 months. Gram negative bacilli septicemia was detected in second attack. The immune system was evaluated 1 month after the first and second episodes of MAS and low immunoglobulins and 0 level of CD19 were detected in both. XLA (Bruton) was the final diagnosis and he is on IVIg, monthly. Moreover, he is on treatment with cyclosporine, methotrexate and prednisolone for polyarthritis and he is in remission on medication now.Conclusion: XLA can be presented with various types of autoimmunity and it should be considered in a patient with several episode of autoimmunity.

Most patients with X-LINKED AGAMMAGLOBULINEMIA are susceptible to infections, while some cases also suffer from inflammatory or autoimmune complications. We describe a patient with progressive encephalitis who improved after the use of immunomodulatory treatment with corticosteroids, fluoxetine, and nitazoxanide. In most of the cases the evolution of the progressive encephalitis is complicated and catastrophic. Based on our experience and the review of the literature, we propose the use of this combined treatment to control this devastating complication.

X-LINKED AGAMMAGLOBULINEMIA (XLA) is a hereditary immunodeficiency, characterized by an early onset of recurrent bacterial infections, hypogammaglobulinemia and markedly reduced B lymphocytes number.In order to determine the association of neutropenia among Iranian patients with XLA, hospital records of 30 patients with confirmed XLA in Children Medical Center Hospital, were reviewed.Eight out of 30 XLA patients (26.7%) developed neutropenia during the course of the disease. In two patients, episodes of neutropenia were identified before or at the time of diagnosis of XLA. Other six patients whom were not visited regularly and did not receive periodical immunoglobulin replacement therapy experienced neutropenia after diagnosis of XLA.Neutropenia in XLA is mainly associated with infection and is resolved with intravenous immunoglobulin replacement and antibiotics therapy.

Background/objectives: X-LINKED (Bruton’ s) AGAMMAGLOBULINEMIA (XLA) is a rare congenital disorder with defects in early B cell development caused by mutations in the gene encoding BTK (Bruton tyrosine kinase). The aim of this study was to investigate the expression and phosphorylation of BTK protein domain in these patients. Methods: A total of 19 patients with mutations in BTK gene were analyzed for the expression and phosphorylation of BTK protein through immunoblotting. The correlations between BTK expression and the results of immunoblotting as well as clinical and immunologic phenotypes were evaluated. Results: Six patients showed normal expression of protein and phosphorylation of BTK and two patients had normal phosphorylation while no expression was observed. There was a significant difference between the groups of patients with normal expression of protein and those without it (p=0. 01). Conclusions: Since we identified 6 patients with normal expression and phosphorylation of BTK, and two patients with normal phosphorylation but no expression, thus more studies should be done in order to explore other aspects of the disease. Although there was not any significant correlation between the severity of clinical manifestations and BTK expression, further investigations are necessary to determine the compensatory mechanisms in XLA patients.