J Clin Immunol (2015) 35:435–438 DOI 10.1007/s10875-015-0171-3
ASTUTE CLINICIAN REPORT
Disseminated Mycobacterium kansasii Disease in Complete DiGeorge Syndrome Suellen Moli Yin 1 & Ronald M. Ferdman 2 & Larry Wang 3 & M. Louise Markert 4 & Jonathan S. Tam 2
Received: 22 March 2015 / Accepted: 18 May 2015 / Published online: 7 June 2015 # Springer Science+Business Media New York 2015
Abstract Purpose Complete DiGeorge syndrome (cDGS) describes a subset of patients with DiGeorge syndrome that have thymic aplasia, and thus are at risk for severe opportunistic infections. Patients with cDGS and mycobacterial infection have not previously been described. We present this case to illustrate that patients with cDGS are at risk for nontuberculous mycobacterial infections and to discuss further antimicrobial prophylaxis prior to thymic transplantation. Methods A 13-month old male was identified as T cell deficient by the T cell receptor excision circle (TREC) assay on newborn screening, and was subsequently confirmed to have cDGS. He presented with fever and cough, and was treated for chronic aspiration pneumonia as well as Pneumocystis jirovecii infection without significant improvement. It was only after biopsy of mediastinal lymph nodes seen on CT that the diagnosis of disseminated Mycobacterium kansasii was made. We reviewed the literature regarding atypical mycobacterial infections and prophylaxis used in other immunocompromised patients, as well as the current data regarding cDGS detection through TREC newborn screening.
Results Multiple cases of cDGS have been diagnosed via TREC newborn screening, however this is the first patient with cDGS and disseminated mycobacterial infection to be reported in literature. Thymic transplantation is the definitive treatment of choice for cDGS. Prophylaxis with either clarithromycin or azithromycin has been shown to reduce mycobacterial infections in children with advanced human immunodeficiency virus infection. Conclusions Children with cDGS should receive thymic transplantion as soon as possible, but prior to this are at risk for nontuberculous mycobacterial infections. Severe, opportunistic infections may require invasive testing for diagnosis in patients with cDGS. Antimicrobial prophylaxis should be considered to prevent disseminated mycobacterial infection in these patients. Keywords Complete DiGeorge syndrome . T cell receptor excision circle . Mycobacterium kansasii . antimicrobial prophylaxis . thymic transplantation
Introduction * Suellen Moli Yin [email protected] 1
Department of General Pediatrics, Children’s Hospital Los Angeles, University of Southern California, Los Angeles, CA 90027, USA
2
Division of Clinical Immunology and Allergy, Department of Pediatrics, Children’s Hospital Los Angeles, University of Southern California, Los Angeles, CA 90027, USA
3
Department of Pathology, Children’s Hospital Los Angeles, University of Southern California, Los Angeles, CA 90027, USA
4
Division of Allergy and Immunology, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA
The majority of children with DiGeorge syndrome (DGS) have a mild to moderate immunodeficiency termed Bincomplete^ or Bpartial^ DGS. A minority (
ASTUTE CLINICIAN REPORT
Disseminated Mycobacterium kansasii Disease in Complete DiGeorge Syndrome Suellen Moli Yin 1 & Ronald M. Ferdman 2 & Larry Wang 3 & M. Louise Markert 4 & Jonathan S. Tam 2
Received: 22 March 2015 / Accepted: 18 May 2015 / Published online: 7 June 2015 # Springer Science+Business Media New York 2015
Abstract Purpose Complete DiGeorge syndrome (cDGS) describes a subset of patients with DiGeorge syndrome that have thymic aplasia, and thus are at risk for severe opportunistic infections. Patients with cDGS and mycobacterial infection have not previously been described. We present this case to illustrate that patients with cDGS are at risk for nontuberculous mycobacterial infections and to discuss further antimicrobial prophylaxis prior to thymic transplantation. Methods A 13-month old male was identified as T cell deficient by the T cell receptor excision circle (TREC) assay on newborn screening, and was subsequently confirmed to have cDGS. He presented with fever and cough, and was treated for chronic aspiration pneumonia as well as Pneumocystis jirovecii infection without significant improvement. It was only after biopsy of mediastinal lymph nodes seen on CT that the diagnosis of disseminated Mycobacterium kansasii was made. We reviewed the literature regarding atypical mycobacterial infections and prophylaxis used in other immunocompromised patients, as well as the current data regarding cDGS detection through TREC newborn screening.
Results Multiple cases of cDGS have been diagnosed via TREC newborn screening, however this is the first patient with cDGS and disseminated mycobacterial infection to be reported in literature. Thymic transplantation is the definitive treatment of choice for cDGS. Prophylaxis with either clarithromycin or azithromycin has been shown to reduce mycobacterial infections in children with advanced human immunodeficiency virus infection. Conclusions Children with cDGS should receive thymic transplantion as soon as possible, but prior to this are at risk for nontuberculous mycobacterial infections. Severe, opportunistic infections may require invasive testing for diagnosis in patients with cDGS. Antimicrobial prophylaxis should be considered to prevent disseminated mycobacterial infection in these patients. Keywords Complete DiGeorge syndrome . T cell receptor excision circle . Mycobacterium kansasii . antimicrobial prophylaxis . thymic transplantation
Introduction * Suellen Moli Yin [email protected] 1
Department of General Pediatrics, Children’s Hospital Los Angeles, University of Southern California, Los Angeles, CA 90027, USA
2
Division of Clinical Immunology and Allergy, Department of Pediatrics, Children’s Hospital Los Angeles, University of Southern California, Los Angeles, CA 90027, USA
3
Department of Pathology, Children’s Hospital Los Angeles, University of Southern California, Los Angeles, CA 90027, USA
4
Division of Allergy and Immunology, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA
The majority of children with DiGeorge syndrome (DGS) have a mild to moderate immunodeficiency termed Bincomplete^ or Bpartial^ DGS. A minority (
