Browsing by Author "Kumar, Mani Kant"
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Publication Bruton’s X-Linked Agammaglobulinemia Presenting as Chronic Monoarticular Arthritis(Nepal Paediatric Society (JNPS), 2012) Kumar, Mani Kant; Patel, Pankaj Kumar; Tahir, Mohammad Mahtab AliAbstract: Bruton’s X-Linked Agammaglobulinemia (XLA) is an X linked recessive primary immune deficiency disorder characterized by recurrent bacterial infections and failure to generate immunoglobulins of all isotypes due to the absence or profoundly decreased mature B cells and plasma cells, secondary to mutations in the Bruton’s tyrosine kinase (Btk) gene. The coexistence of chronic monoarticular arthritis in a patient with Bruton’s XLA has been described an uncommon presentation. We describe a 5 year-old boy with XLA and chronic monoarticular arthritis.Publication Wiskott Aldrich Syndrome, often Missed: A Case Report and Review(Nepal Paediatric Society (JNPS), 2011) Kumar, Mani Kant; Narayan, RaghvendraAbstract: Wiskott-Aldrich syndrome is an X-linked recessive disorder characterized by thrombocytopenia, eczema and recurrent infections. We report a 15 month old boy who had presented with lower gastrointestinal bleed, recurrent infections and eczema. Blood picture revealed microthrombocytopenia, high IgA and IgE, and low IgM and Normal IgG levels. A diagnosis of Wiskott-Aldrich Syndrome was made, which was missed by many paediatrician even after prolonged hospital stay before admission in our Institute. The recent progress in understanding of the pathophysiology and treatment are discussed.