ABSTRACT
Actinomycosis is caused by the Gram positive filamentous Actinomyces bacterial species that are normal commensals of the oral cavity. Due to their low virulence, disease is rare in the immune competent patient. Although it may afflict any system in the body, involvement of the musculoskeletal system is uncommon. Here in, we describe the case of a 60 year old lady presenting with low grade fever, left hip pain and drowsiness. She was diagnosed as left hip actinomycosis on Computed tomogram (CT) guided biopsy and histopathological analysis of infiltrative lesions identified on Magnetic Resonance Imaging (MRI). She also had meningitis diagnosed on cerebrospinal fluid analysis which improved with treatment of actinomycosis. Actinomycosis of the hip is rare, and occurs in the presence of described predisposing factors. To the best of our knowledge, this is the first case of sporadic actinomycosis of the hip complicated by meningitis in an immune competent individual.
Subject(s)
Actinomycosis/diagnosis , Arthritis, Infectious/diagnosis , Central Nervous System Bacterial Infections/diagnosis , Hip Joint/diagnostic imaging , Actinomycosis/drug therapy , Actinomycosis/pathology , Anti-Bacterial Agents/therapeutic use , Arthritis, Infectious/drug therapy , Arthritis, Infectious/pathology , Central Nervous System Bacterial Infections/drug therapy , Female , Hip Joint/pathology , Humans , Magnetic Resonance Imaging , Middle AgedABSTRACT
BACKGROUND: Clinical immunology has traditionally relied on accurate phenotyping of the patient's immune dysfunction for the identification of a candidate gene or genes for sequencing and molecular confirmation. Although this is also true for other branches of medicine, the marked variability in immune-related phenotypes and the highly complex network of molecules that confer normal host immunity are challenges that clinical immunologists often face in their quest to establish a specific genetic diagnosis. OBJECTIVE: We sought to identify the underlying genetic cause in a consanguineous family with chronic inflammatory bowel disease-like disorder and combined immunodeficiency. METHODS: We performed exome sequencing followed by autozygome filtration. RESULTS: A truncating mutation in LPS-responsive beige-like anchor (LRBA), which abolished protein expression, was identified as the most likely candidate variant in this family. CONCLUSION: The combined exome sequencing and autozygosity mapping approach is a powerful tool in the study of atypical immune dysfunctions. We identify LRBA as a novel immunodeficiency candidate gene the precise role of which in the immune system requires future studies.
