Pulmonary Artery Aneurysm in a Patient with Nontuberculous Mycobacteria Infection.

Nontuberculous mycobacterial (NTM) infection sometimes leads to the development of pulmonary artery aneurysm (PAA), a rare but life-threatening complication. We herein report a 64-year-old woman with a history of NTM infection who presented with severe hemoptysis. Computed tomography revealed a ruptured PAA, which was treated successfully with pulmonary artery embolization. Subsequent right total pneumonectomy was performed to control infection. This case emphasizes the need to consider PAA in patients with NTM infection who present with hemoptysis. Early detection and appropriate management are critical for preventing this fatal complication.

Ocular infections associated with atypical mycobacteria: A review.

Atypical mycobacteria or non-tuberculous mycobacteria (NTM) are a group of acid-fast bacteria that are pathogenic to different parts of the eye. The organisms can cause a spectrum of ocular infections including keratitis, scleritis, uveitis, endophthalmitis and orbital cellulitis. Trauma, whether surgical or nonsurgical, has the highest correlation with development of this infection. Common surgeries after which these infections have been reported include laser in situ keratomileusis (LASIK) and scleral buckle surgery. The organism is noted to form biofilms with sequestration of the microbe at different inaccessible locations leading to high virulence. Collection of infective ocular material (corneal scraping/necrotic scleral tissue/abscess material/vitreous aspirate, etc.) and laboratory identification of the organism through microbiologic testing are vital for confirming presence of the infection and initiating treatment. In cluster infections, tracing the source of infection in the hospital setting via testing of different in-house samples is equally important to prevent further occurrences. Although the incidence of these infections is low, their presence can cause prolonged disease that may often be resistant to medical therapy alone. In this review, we describe the various types of NTM-ocular infections, their clinical presentation, laboratory diagnosis, management, and outcomes.

Current management of cervicofacial nontuberculous mycobacterial infections in the pediatric population.

PURPOSE OF REVIEW: The purpose of this review is to analyze and consolidate recently published literature to provide updated guidelines on the diagnosis and management of nontuberculous mycobacterial lymphadenitis (NTM LAD) in the pediatric population and to suggest areas of further research. RECENT FINDINGS: Diagnosis of NTM LAD relies on a detailed clinical history, physical examination, laboratory tests, and imaging techniques. Treatment strategies vary widely, with a shift towards complete surgical excision being observed due to its higher cure rate, improved aesthetic outcomes, and lower recurrence rates. However, patient-specific factors must be considered. The role of genetic factors, such as Mendelian susceptibility to mycobacterial disease (MSMD), is being increasingly recognized and could lead to targeted therapies. SUMMARY: Despite strides in the understanding and management of NTM LAD, substantial gaps remain in key areas such as the role of diagnostic imaging, optimal treatment parameters, postoperative care, and surveillance strategies. In this article, we explain our approach to NTM using the most relevant evidence-based medicine while offering directions for future work.

Rare, Atypical Mycobacterium Infection of the Hand in Immunocompetent Individuals.

We present two cases of immunocompetent individuals diagnosed with nontuberculous infections of the hand caused by organisms rarely seen in the clinical setting: Mycobacterium heckeshornense and Mycobacterium chelonae. In the first case, a 50-year-old male presented with tenosynovitis of left long finger. He was subsequently found to have a Mycobacterium heckeshornense infection that was resolved with multiple surgeries and a long-term regimen of several antibiotics. The second case was a 29-year-old female with a history of a trivial hand injury infected with Mycobacterium chelonae. She was successfully treated with surgical debridement and antibiotics over the course of eight months. It is important to recognize the increasing prevalence of these two species of bacteria as human pathogens that can result in infections of the extremities even in immunocompetent individuals. (Journal of Surgical Orthopaedic Advances 32(1):055-058, 2023).

Nontuberculous Mycobacterial Infection of Larynx and Cervical Trachea.

OBJECTIVES: To present a patient with the first case of NTM (nontuberculous mycobacteria) infection of the larynx extending to cervical trachea, and the first case of subglottic stenosis associated with an NTM infection. METHODS: Case report and review of the literature. RESULTS: A 68-year-old female with history of prior smoking, gastroesophageal reflux disease, asthma, bronchiectasis, and tracheobronchomalacia presented with a 3-month history of shortness of breath, exertional inspiratory stridor, and hoarseness. Flexible laryngoscopy demonstrated ulceration of medial aspect of right vocal fold and subglottic tissue abnormality with crusting and ulceration extending through the upper trachea. Microdirect laryngoscopy with tissue biopsies and carbon dioxide (CO2) laser ablation of disease completed, and intraoperative culture revealed positive Aspergillus and acid-fast bacilli with Mycobacterium abscessus (type of NTM). Patient began antimicrobial treatment of cefoxitin, imipenem, amikacin, azithromycin, clofazimine, and itraconazole. Fourteen months after initial presentation, patient developed subglottic stenosis with limited extension into the proximal trachea prompting CO2 laser incision, balloon dilation, and steroid injection of the subglottic stenosis. Patient remains disease free without further subglottic stenosis. CONCLUSION: Laryngeal NTM infections are exceedingly rare. Failure to consider NTM infection in the differential diagnosis when presented with an ulcerative, exophytic mass in patients with increased risk factors (structural lung disease, Pseudomonas colonization, chronic steroid use, prior NTM positivity) may result in insufficient tissue evaluation, delayed diagnosis, and disease progression.

Abscesos mamarios múltiples por Mycobacterium abscessus en mastopexia secundaria con implantes mamarios / Multiple breast abscesses due to Mycobacterium abscessus in secondary mastopexy with breast implant

Las infecciones periprotésicas son una complicación poco frecuente en cirugía de implantes mamarios, pero de difícil resolución si son causadas por gérmenes como las micobacterias. Mycobacterium abscessus es una micobacteria no tuberculosa de rápido crecimiento, que se presenta de manera atípica, generando abscesos y fístulas cutáneas. En este reporte presentamos el caso de una paciente que fue intervenida por recambio de implantes mamarios y mastopexia secundaria. La paciente presentó un seroma temprano como manifestación inicial y posteriormente desarrolló múltiples abscesos en todo el parénquima mamario. El tratamiento instaurado en la paciente fue la extracción del implante mamario,curaciones diarias de la herida, antibioticoterapia prolongada y punciones periódicas guiadas por ecografía, con cultivo del material obtenido. El objetivo de nuestro reporte fue presentar esta complicación generada por un germen poco frecuente, su forma de presentación, diagnóstico y el tratamiento establecido

Although periprosthetic infections are a rare complication in breast implant surgery, they are difficult to resolve if they entail germs like mycobacteria. Mycobacterium abscessus is a rapidly growing, nontuberculous mycobacterium that occurs atypically and generates abscesses and cutaneous fistulas. In this report, we present the case of a patient that underwent surgery for a breast implant replacement and a secondary mastopexy. The initial manifestation the patient evinced was an early seroma. Later, she developed multiple abscesses in all the breast parenchyma. The treatment established for the patient involved extracting the breast implant, daily cleaning and dressing of the wound, prolonged antibiotic therapy, and periodical punctures guided by ultrasound, accompanied by culture sampling. The aim of this report is to present this infrequent germ-generated complication, its form of manifestation, its diagnosis, and the established treatment.

Healthcare use and medical cost before and after diagnosis of nontuberculous mycobacterial infection in Korea: the National Health Insurance Service-National Sample Cohort Study.

BACKGROUND AND OBJECTIVE: The global prevalence and incidence of nontuberculous mycobacterial (NTM) infections are increasing; however, population-level data on healthcare use and medical costs for people with NTM infections are limited. Thus, we investigated the rates of healthcare use and medical costs of people with NTM infections in South Korea using the National Health Insurance Service-National Sample Cohort from 2002 to 2015. METHODS: In this cohort study, people with and without NTM infection aged 20-89 years were matched 1 to 4 by sex, age, Charlson comorbidity index, and year of diagnosis. The overall and annual average healthcare use and medical costs were calculated. In addition, trends in healthcare use and medical costs for each of the 3 years before and after NTM diagnosis were investigated for people diagnosed with NTM infection. RESULTS: A total of 798 individuals (336 men and 462 women) diagnosed with NTM infection and 3192 controls were included in the study. NTM-infected patients had significantly higher rates of healthcare use and medical costs than those in the control group (p < 0.05). NTM-infected patients showed 1.5 times the medical cost and 4.5 times the respiratory disease cost of the control group. People diagnosed with NTM infection incurred the highest medical costs in the 6 months before diagnosis. CONCLUSION: NTM infection increases the economic burden on Korean adults. Appropriate diagnostic tests and treatment plans for NTM infections are needed to reduce the burden of the disease caused by such infection.

Epidemiology and management of nontuberculous mycobacterial disease in people with cystic fibrosis, the Netherlands.

BACKGROUND: Nontuberculous mycobacteria (NTM) are opportunistic, difficult to treat pathogens. With increasing prevalence of NTM infections in people with cystic fibrosis (pwCF) and the improved life expectancy, the burden is expected to grow. METHODS: We assessed the epidemiology and management of NTM isolation and disease in pwCF in the Netherlands using a survey and retrospective, case-controlled data from the Dutch CF Registry. We determined the isolation prevalence, treatment and outcomes from 2013-2019. RESULTS: NTM isolation prevalence increased from 1.0% to 3.6% (2013-2019). This was a single NTM isolation in 53.7% of the adults and 60.0% of the children. M. abscessus and M. avium complex (MAC) were most frequent (47.1 and 30.9%). Of the treated pwCF, 48.5% attained culture conversion of M. abscessus; 54.5% for MAC. Children with an NTM isolation showed more infections with S. maltophilia and/or A. fumigatus (p < 0.001) compared to controls. In the year prior to NTM isolation, children in the NTM group had a lower mean FEV1% predicted (81.5 ± 16.7 vs. 88.6 ± 15.3, p = 0.024), while adults in the NTM group had more IV antibiotic days compared to controls (60 vs. 17, p = 0.047). In the following years, FEV1% predicted declined faster in pwCF with NTM than the control group (children: -3.8% vs. -1.6%, p = 0.023; adults: -0.7% and 0.4%, ns). CONCLUSIONS: The isolation prevalence of 3.6%, poor treatment outcomes and associated lung function decline emphasize that NTM pulmonary disease (NTM-PD) is a significant health issue among pwCF in the Netherlands. Its prevention and treatment require increased attention.

Actualización del manejo de microbacterias no tuberculosas / Update on the management of non-tuberculous mycobacteria

Desde el año 2007 se han generado guías de diagnóstico y tratamiento de micobacterias no tuberculosas (MNTB), la última de las cuales fue desarrollada en el año 2020 por ATS/ERS/ESCMID/IDSA, en ella se actualizan los criterios diagnósticos, los criterios para determinar el inicio de tratamiento y recomendaciones de esquema de antibióticos para las especies más frecuentes. En paralelo se han ido desarrollando terapias alternativas como la fagoterapia. El objetivo de la presente revisión es dar a conocer los cambios que traen estas últimas guías y actualizar algunas de las últimas novedades con respecto al manejo de las micobacterias no tuberculosas.

Since 2007, guidelines for diagnosis and treatment of non-tuberculous Mycobacteria have been generated, the latest of which was developed by ATS/ERS/ESCMID/IDSA, in which the diagnostic criteria, and the criteria for determining the initiation of treatment and antibiotic scheme recommendations for the most frequent species are updated. At the same time, alternative therapies such as phage therapy have been developed. The objective of this review is to show the changes that these latest guidelines bring and update some of the latest developments regarding the management of non-tuberculous Mycobacteria.

[Patients with lung disease caused by non-tuberculous mycobacteria in Germany: a trans-sectoral patient-oriented care concept]. / Versorgung von Patienten/innen mit einer durch nichttuberkulöse Mykobakterien verursachten Lungenerkrankung in Deutschland ­ ein transsektorales patientenorientiertes Versorgungskonzept.

INTRODUCTION: Management of patients with lung disease caused by non-tuberculous mycobacteria (NTM-LD) in Germany is currently characterized by delayed diagnosis, frequently poor prognosis and high follow-up costs. Mainly due to an increased number of hospitalizations, the SHI-relevant direct costs (€ 9,093.20 patient/year) are higher compared to typical underlying diseases (e.g. asthma: € 706.00 patient/year). This less than optimal NTM care is mainly caused by lack of awareness of the disease at primary care and out-patient specialist care level, largely absent structured referral structures and limited communication between specialists out of hospital with specialized NTM clinics. Lack of incentives to support these communication pathways is part of the problem. Sufficient, appropriate and economically sustainable care is hampered by poor adherence to treatment recommendations. METHODS: For the development of the NTM care concept, relevant professional societies and patient organizations were interviewed about the care situation. Thereafter, 20 NTM-LD patients, 5 residential pulmonologists and 8 experts were interviewed in an explorative qualitative interview to determine the current patient pathway. Based on the findings, the NTM care concept was developed in an advisory board by the authors. RESULTS: Regional management centers should concentrate specific expertise and ensure quality of care through routine consultation and involvement in diagnosis, decision-making on treatment necessity, initiation of therapy, follow-up examinations, and determination of the therapy success, as well as adequate follow-up of patients. The referring pulmonologist should continue to provide case-specific therapy support close to the patient's home in preferred shared-care concept. The establishment of clear referral structures and case identification criteria will help residential physicians to include patients at risk in the NTM-care system early. Patients and pulmonologists without specific expertise need to be made aware of the care pathway and severity of NTM-LD. CONCLUSION: The increased morbidity and mortality of NTM-LD patients must be addressed with patient-oriented, interdisciplinary and trans-sectoral care concept. An NTM care system with clear treatment procedures and referral structures is proposed for a nationwide pilot project.

Purulent Flexor Tendon Rupture of the Hand due to Mycobacterium abscessus Infection: A Case Report and Review of the Literature.

Mycobacterium abscessus infection of the upper extremities is uncommon. However, M abscessus can cause severe chronic tenosynovitis, and delayed diagnosis may result in poor outcomes. We describe an unusual clinical case of purulent flexor tendon synovitis followed by subcutaneous tendon rupture due to M abscessus infection in a patient with diabetes mellitus. A 76-year-old man presented to our hospital with painful, erythematous swelling over his left fourth finger. On physical examination, the left fourth finger was swollen and reddish, with persistent exudate from the surgical scar. The left elbow was also swollen and reddish with persistent discharge, which was consistent with olecranon bursitis. The patient was unable to flex his left fourth finger, and the passive range of motion of the finger was also restricted. The physical examination findings and patient history suggested purulent flexor tendinitis. His infection healed after radical debridement of necrotic tissue and administration of antibiotics effective against M abscessus. Third-stage flexor reconstruction restored the function of the fourth finger. The combination of surgical debridement and chemotherapy was the most effective treatment for mycobacterial tenosynovitis. This case shows that M abscessus can cause chronic severe purulent tenosynovitis and flexor tendon rupture after tendon surgery. Although early diagnosis and combination treatment with debridement and chemotherapy might improve outcomes by limiting the severity and duration of damage to the flexor synovial system, late-presenting patients require combined radical debridement of necrotic tissue and aggressive chemotherapy followed by staged flexor tendon reconstruction.

Host and pathogen response to bacteriophage engineered against Mycobacterium abscessus lung infection.

Two mycobacteriophages were administered intravenously to a male with treatment-refractory Mycobacterium abscessus pulmonary infection and severe cystic fibrosis lung disease. The phages were engineered to enhance their capacity to lyse M. abscessus and were selected specifically as the most effective against the subject's bacterial isolate. In the setting of compassionate use, the evidence of phage-induced lysis was observed using molecular and metabolic assays combined with clinical assessments. M. abscessus isolates pre and post-phage treatment demonstrated genetic stability, with a general decline in diversity and no increased resistance to phage or antibiotics. The anti-phage neutralizing antibody titers to one phage increased with time but did not prevent clinical improvement throughout the course of treatment. The subject received lung transplantation on day 379, and systematic culturing of the explanted lung did not detect M. abscessus. This study describes the course and associated markers of a successful phage treatment of M. abscessus in advanced lung disease.

Viruses to the rescue-Use of bacteriophage to treat resistant pulmonary infections.

People with cystic fibrosis (CF) are commonly infected with difficult to treat organisms, including non-tuberculous mycobacteria. Bacteriophage are viruses that lyse specific bacteria. Nick and colleagues describe the first successful treatment of a Mycobacterium abscessus lung infection with bacteriophage in an immune competent individual. This report provides important information regarding the efficacy of phage therapy and timeline of treatment response.

Non-tuberculous Mycobacterial Infection of the Retropharyngeal Space.

We report a case of Mycobacterium avium complex infection of the retropharyngeal space in a 20-month-old girl. We also summarize the published literature on the pathogenesis and management of nontuberculous mycobacterial infections of the retropharynx.

CLINICAL CHARACTERISTICS AND VISUAL OUTCOMES IN ENDOPHTHALMITIS AFTER KERATOPROSTHESIS IMPLANTATION.

PURPOSE: To describe the presentation, microbiology, management, and prognosis of eyes with endophthalmitis after Boston keratoprosthesis implantation. METHODS: Retrospective case series with history, diagnostics, management, and outcomes data in endophthalmitis after keratoprosthesis implantation presenting to a tertiary center between 2009 and 2020. RESULTS: Of 137 keratoprosthesis-implanted eyes, 7 eyes of 7 patients (5%) developed endophthalmitis. On presentation, 6 (86%) reported decreased visual acuity, and only 1 (14%) reported pain. Peripheral corneal ulcers were present in 2 eyes (29%). Seidel testing was negative in all cases. Six eyes (86%) had retroprosthetic membranes. One (14%) underwent initial pars plana vitrectomy with mechanical vitreous biopsy, whereas 6 (86%) received a needle vitreous tap-half of which were dry. Organisms were isolated after vitreous tap in two eyes: Streptococcus intermedius and Mycobacterium abscessus. The mean visual acuity preendophthalmitis, at presentation, and at 6 months were 20/267, 20/5,944, and 20/734, respectively. The visual acuity improved 9.08 ± 11.78 Early Treatment Diabetic Retinopathy Study lines from presentation to 6 months. Six-month visual acuity was correlated with preendophthalmitis visual acuity (r = 0.92, P = 0.003) but not presenting visual acuity (P = 0.838). CONCLUSION: Visual acuity at 6 months is correlated with preendophthalmitis visual acuity, not presenting visual acuity. Endophthalmitis should be considered in the differential diagnosis of painless intraocular inflammation any time after keratoprosthesis implantation, even if Seidel negative.

Clinical analysis of nontuberculous mycobacterial infection after minimally invasive plastic surgery and cosmetic surgery.

OBJECTIVE: To investigate the clinical features, diagnosis, and treatment of nontuberculous mycobacterial infections after minimally invasive plastic surgery and cosmetic surgery, and to provide reference data for the management of affected patients. METHOD: We retrospectively analyzed 12 cases of nontuberculous mycobacterial infection after minimally invasive plastic surgery and cosmetic surgery in our department from January 2014 to December 2020. The case data included baseline characteristics, morbidity, chronology of patient symptoms, diagnostic results, and treatment outcomes. Disease characteristics were summarized and objectively analyzed. RESULTS: The 12 patients infected with nontuberculous mycobacteria after plastic surgery and cosmetic surgery received small incision or minimally invasive surgery. The onset time was 5-30 days after surgery, the clinical manifestations were non-specific, and ordinary antibiotics are ineffective. CONCLUSIONS: Small incisions or minimally invasive plastic surgery and cosmetic surgery have hidden dangers of nontuberculous mycobacterial infection, and the detection and diagnosis are difficult, and the treatment time is long, which requires attention.

Development of a Multiplex Real-Time PCR Assay for Mycobacterium bovis BCG and Validation in a Clinical Laboratory.

Mycobacterium bovis bacillus Calmette-Guérin (BCG) is a live attenuated vaccine which can result in local or disseminated infection, most commonly in immunocompromised individuals. Differentiation of BCG from other members of the Mycobacterium tuberculosis complex (MTBC) is required to diagnose BCG disease, which requires specific management. Current methods for BCG diagnosis are based on mycobacterial culture and conventional PCR; the former is time-consuming and the latter often unavailable. Further, there are reports that certain BCG strains may be associated with a higher rate of adverse events. This study describes the development of a two-step multiplex real-time PCR assay which uses single nucleotide polymorphisms to detect BCG and identify early or late BCG strains. The assay has a limit of detection of 1 pg BCG boiled lysate DNA and was shown to detect BCG in both pure cultures and experimentally infected tissue. Its performance was assessed on 19 suspected BCG clinical isolates at Christian Medical College in Vellore, India, taken from January 2018 to August 2020. Of these 19 isolates, 10 were identified as BCG (6 early and 4 late strains), and 9 were identified as other MTBC members. Taken together, the results demonstrate the ability of this assay to identify and characterize BCG disease from cultures and infected tissue. The capacity to identify BCG may improve patient management, and the ability to discriminate between BCG strains may enable BCG vaccine pharmacovigilance. IMPORTANCE Vaccination against tuberculosis with bacillus Calmette-Guérin (BCG) can lead to adverse events, including a rare but life-threatening complication of disseminated BCG. This complication often occurs in young children with immunodeficiencies and is associated with an ∼60% mortality rate. A rapid method of reliably identifying BCG infection is important because BCG requires treatment unique to tuberculosis. BCG is resistant to the first-line antituberculosis drug pyrazinamide. Additionally, diagnosis of BCG disease would lead to further investigation of a possible underlying immune condition. We have developed a diagnostic assay to identify BCG which improves upon previously published methods and can reliably identify BCG from bacterial culture or directly from infected tissue. This assay can also differentiate between strains of BCG, which have been suggested to be associated with different rates of adverse events. This assay was validated on 19 clinical isolates collected at Christian Medical College in Vellore, India.

Challenges in the management of slowly growing non-tuberculous mycobacteria causing pulmonary disease: Perspectives from a high burden country.

PURPOSE: There is a dearth of data on epidemiology, diagnosis and management of slow growing non tuberculous mycobacteria(NTM) in India, despite being a TB endemic country. This study aims to describe the geographic distribution, risk factors, and the challenges in management of slow growing NTM causing pulmonary infections. METHODS: Over a period of 3 years, all slow growing NTM received from pulmonary specimens at a tertiary care centre were further studied from electronic hospital records to correlate non tuberculous mycobacteria species with demographics, geographic location, describe comorbidities including immunosuppression, radiologic findings and treatment regimes. RESULTS: M.intracellullare was found in the majority of isolates with significant geographic variation and M.simiae the second commonest found exclusively in southern states. Common comorbidities included a previous history of treatment for tuberculosis, structural lung disease as well as systemic risk factors. Disseminated disease only occurred in immunocompromised hosts as was expected, but at a high rate of 44%. Treatment completion and outcomes were difficult to attain in our population. CONCLUSION: The burden of NTM infection and its management in India remain a challenge. Ensuring it is made a notifiable disease may improve the current situation.

Factors affecting in-hospital mortality of non-tuberculous mycobacterial pulmonary disease.

BACKGROUND: The incidence and prevalence of non-tuberculous mycobacterial pulmonary disease (NTM-PD) are reportedly increasing in many parts of the world. However, there are few published data on NTM-PD-related death. Using data from a national inpatient database in Japan, we aimed in this study to identify the characteristics of patients with NTM-PD and clinical deterioration and to identify risk factors for in-hospital mortality. METHODS: We examined data from the Diagnosis Procedure Combination (DPC) database in Japan from July 2010 to March 2014. We extracted data for HIV-negative NTM-PD patients who required unscheduled hospitalization. We evaluated these patients' characteristics and performed multivariable logistic regression analysis to identify risk factors for all-cause in-hospital mortality. RESULTS: A total of 16,192 patients (median age: 78 years; women: 61.2%) were identified. The median body mass index (BMI) was 17.5 kg/m2 (IQR 15.4-20.0). All cause In-hospital death occurred in 3166 patients (19.6%). The median BMI of the patients who had died was 16.0 kg/m2 (IQR 14.2-18.4). Multivariable analysis revealed that increased mortality was associated with male sex, lower BMI, lower activities of daily living scores on the Barthel index, hemoptysis, and comorbidities, including pulmonary infection other than NTM, interstitial lung disease, pneumothorax, and malignant disease. CONCLUSIONS: We found associations between being underweight and having several comorbidities and increased in-hospital mortality in patients with NTM-PD. Preventing weight loss and management of comorbidities may have a crucial role in improving this disease's prognosis.

Case Report: Hemophagocytic Lymphohistiocytosis and Non-Tuberculous Mycobacteriosis Caused by a Novel GATA2 Variant.

Hemophagocytic lymphohistiocytosis (HLH) is a disorder of uncontrolled immune activation with distinct clinical features including fever, cytopenia, splenomegaly, and sepsis-like symptoms. In a young adolescent patient a novel germline GATA2 variant (NM_032638.5 (GATA2): c.177C>G, p.Tyr59Ter) was discovered and had resulted in non-tuberculous mycobacterial (NTM) infection and aggressive HLH. Strikingly, impaired degranulation of cytotoxic T-lymphocytes (CTL) and natural killer (NK)-cells was detected in CD107a-analyses. The affected patient was treated with HLA-matched unrelated alloHSCT, and subsequently all hematologic and infectious abnormalities including HLH and NTM resolved. This case supports early alloHSCT in GATA2 deficiencies as curative approach regardless of active NTM infection. Future studies on GATA2 c.177C>G, p.Tyr59*Ter might unravel its potential role in cytotoxic effector cell function and its contribution to HLH pathogenesis.