Pneumatosis Cystoides Intestinalis Complicated during Chemotherapy for Pulmonary Nontuberculous Mycobacterial Disease

Background: Pneumatosis cystoides intestinalis (PCI) is a rare disease characterized by the presence of gas in the intestinal wall. Aim: We report two rare cases of PCI that are complicated during the chemotherapy for pulmonary nontuberculous mycobacterial (NTM) disease. Case Presentation: In this report, we described two cases (a 72-year-old woman and a 60-year-old woman) of PCI that appeared during the combined chemotherapy consisting of rifampicin, ethambutol and clarithromycin. Because there were few clinical symptoms and increased inflammatory responses, the diagnosis of PCI was delayed. However, there were fortunately no severe complications in both cases. Conclusion: Respiratory physicians should be aware of the potential development of PCI in patients during the chemotherapy for pulmonary NTM disease. It is important to detect PCI in the early stage through radiological examinations to avoid severe complications.

Clinical Analysis of Pulmonary Nontuberculous Mycobacterial Disease Complicated by Lung Cancer during the Follow-Up Periods

Introduction: The objective of this study was the estimation of the clinical characteristics of patients with pulmonary nontuberculous mycobacterial (NTM) disease complicated by lung cancer during the follow-up periods. Methods: We analyzed the clinical findings of four patients (2.0%) complicated by lung cancer during the follow-up periods of over six months at least after the definite diagnosis of pulmonary NTM disease of 202 patients with pulmonary NTM disease experienced in our hospital in the last decade. Results: There were four patients with pulmonary NTM disease complicated by lung cancer and all of them were caused by Mycobacterium avium complex (MAC). They were all elderly male patients and had underlying diseases. Three patients were diagnosed with primary lung cancer and one diagnosed with metastatic lung cancer from colon cancer within 3 years after the diagnosis of pulmonary NTM disease. The treatments for lung cancer were surgical resection for all patients with localized lesions. One patient died due to the worsening of underlying disease and the remaining three survived except for the recurrence of one patient. Conclusion: Although the complication rate of pulmonary NTM disease and lung cancer was a lower percentage (2.0%) than in previous reports, the careful follow-up for patients with pulmonary NTM disease without forgetting the possible complication of lung cancer is necessary.

Insights on the crosstalk between dendritic cells and helper T cells in novel genetic etiology for mendelian susceptible mycobacterial disease

Mendelian susceptibility to mycobacterial disease(MSMD)is an inherited predisposition to infections by Bacille-Calmette Guérin(BCG)vaccine or by environmental mycobacteria.The etiology of MSMD has been associated with up to nineteen different genetic mutations in interferon(IFN)-γ-related genes.1 Although mycobacteria susceptibility-associated genetic mutations are rare in the population,their diagnosis is crucial for an efficient and timely treatment.Kong et al.2 have recently described an autosomal recessive deficiency in the signal peptidase-like 2 A(SPPL2-a)as a new genetic etiology for MSMD in three patients that had suffered BCG dissemination disease.

Hemophagocytic lymphohistiocytosis caused by STAT1 gain-offunction mutation is not driven by interferon-γ:A case report

BACKGROUND Hemophagocytic lymphohistiocytosis(HLH)is a life-threatening hyperinflammatory syndrome caused by many genetic defects.STAT1 is a DNAbinding factor that regulates gene transcription.HLH caused by STAT1 gain-offunction(GOF)mutations has rarely been reported and its clinical manifestations and mechanisms are not clearly defined.CASE SUMMARY A 2-year-old boy presented to our hospital with recurrent fever for>20 d.The patient had a personal history of persistent oral candidiasis and inoculation site infection during the past 2 years.Hepatosplenomegaly was noted.Complete blood cell count showed severe anemia,thrombocytopenia and neutropenia.Other laboratory tests showed liver dysfunction,hypertriglyceridemia and decreased fibrinogen.Hemophagocytosis was found in the bone marrow.Chest computed tomography showed a cavitary lesion.Tests for fungal infection were positive.Serum T helper(Th)1/Th2 cytokine determination demonstrated moderately elevated levels of interleukin(IL)-6 and IL-10 with normal interferon(IFN)-γconcentration.Mycobacterium bovis was identified in bronchoalveolar lavage fluid by polymerase chain reaction.Genetic testing identified a heterozygous mutation of c.1154C>T causing a T385M amino acid substitution in STAT1.Despite antibacterial and antifungal therapy,the febrile disease was not controlled.The signs of HLH were relieved after HLH-94 protocol administration,except fever.Fever was not resolved until he received anti-tuberculosis therapy.Hematopoietic stem cell transplantation was refused and the patient died six months later due to severe pneumonia.CONCLUSION Patients with STAT1 GOF mutation have broad clinical manifestations and may develop HLH.This form of HLH presents with normal IFN-γlevel without cytokine storm.