IL12Rß1 defect presenting with massive intra-abdominal lymphadenopathy due to Mycobacterium intracellulare infection.

Infections due to non-tuberculous mycobacteria species are problematic for immunodeficient individuals. Mendelian susceptibility to mycobacterial diseases (MSMD) defines a group of genetic defects affecting cellular interactions and the interferon (IFN)-γ pathway. Patients with MSMD may present with a disseminated infection resulting from the Bacillus Calmette-Guerin vaccine, Mycobacterium tuberculosis complex, environmental nontuberculous mycobacteria or Salmonella species. Atypical mycobacterial infections and deficient granuloma or giant cell formation are important indicators for MSMD, especially in patients with a family history of parental consanguineous marriage. Herein we report the case of a boy with an IL-12Rß1 defect who presented with massive intraabdominal lymphadenopathy due to Mycobacterium intracellulare infection. The patient was born to consanguineous parents, both heterozygous for the IL-12Rß1 defect mutation. Debulking surgery was planned in order to decrease the abdominal mass, but could not be performed due to a high risk of fatal outcomes. He has been receiving linezolid, levofloxacin, azithromycin, rifabutin and IFN-γ therapy for the past 14 months. At follow-up, the patient showed significant clinical improvement and weight gain.

An outbreak of multidrug-resistant tuberculosis among a family.

Tuberculosis is a major public health problem and it may be complicated by multidrug-resistant tuberculosis (MDR-TB). Wide transmission among immunocompetent contacts of the index case is possible. If you detect tuberculosis in two contacts of the index case, it is called an outbreak. The aim of our paper is to evaluate the characteristics of a MDR-TB outbreak affecting 7 people in a family treated during 2012-2014 in Istanbul Yedikule Training and Research Hospital for Chest Disease and Thoracic Surgery, Turkey. The cultures, spoligotyping, and DNA fingerprinting revealed the same Mycobacterium tuberculosis species as T1 genotype and ST53 subtype. All patients were negative for human immunodeficiency virus and free of other underlying diseases.

Tuberculin skin test positivity without tuberculosis contact: A major challenge in childhood.

AIM: Worldwide, tuberculin skin tests (TSTs) commonly give false positive results for those who had been given the Bacillus-Calmette-Guerin vaccine such as is routinely administered in Turkey. This study aimed to evaluate the patients referred to us who had positive TSTs despite lack of tuberculosis (TB) disease contacts. METHODS: Between September 2011 and September 2012, 183 patients were prospectively evaluated for differential diagnosis of TST positivity despite lack of TB disease contact. They were then followed up by us to determine an accurate diagnosis. RESULTS: Among our patients' most common symptoms indicating a need for TST were chronic cough, productive cough or sputum expectoration, and recurrent or persistent wheezing. Chest x-rays were taken of all patients, and the findings were noted. Interferon gamma release assays were performed on 75% of the patients, of which 96% were negative for TB. The most common final diagnoses were asthma (44%), allergic rhinitis (13%), bronchopneumonia (11%) and reactive lymphadenitis (6.5%). Further evaluations for TB were required of 36 patients, and TB disease was established in 12 of them (6.5%). CONCLUSIONS: In patients who had had no known TB contact, the most common symptom indicating need for TST was chronic cough; the most common diagnoses were asthma and allergic rhinitis. Cavitary lesions, haemoptysis, persistent infiltration, pleural effusion and thoracic lymphadenopathy despite antibiotherapy should alert physicians to the possibility of TB.

Mycobacterium celeriflavum sp. nov., a rapidly growing scotochromogenic bacterium isolated from clinical specimens.

Six strains of a rapidly growing scotochromogenic mycobacterium were isolated from pulmonary specimens of independent patients. Biochemical and cultural tests were not suitable for their identification. The mycolic acid pattern analysed by HPLC was different from that of any other mycobacterium. Genotypic characterization, targeting seven housekeeping genes, revealed the presence of microheterogeneity in all of them. Different species were more closely related to the test strains in various regions: the type strain of Mycobacterium moriokaense showed 99.0 % 16S rRNA gene sequence similarity, and 91.5-96.5 % similarity for the remaining six regions. The whole genome sequences of the proposed type strain and that of M. moriokaense presented an average nucleotide identity (ANI) of 82.9 %. Phylogenetic analysis produced poorly robust trees in most genes with the exception of rpoB and sodA where Mycobacterium flavescens and Mycobacterium novocastrense were the closest species. This phylogenetic relatedness was confirmed by the tree inferred from five concatenated genes, which was very robust. The polyphasic characterization of the test strains, supported by the ANI value, demonstrates that they belong to a previously unreported species, for which the name Mycobacterium celeriflavum sp. nov. is proposed. The type strain is AFPC-000207(T) ( = DSM 46765(T) = JCM 18439(T)).