Disseminated Mycobacterium kansasii Disease in Complete DiGeorge Syndrome

Yin, Suellen Moli; Ferdman, Ronald M.; Wang, Larry; Markert, M. Louise; Tam, Jonathan S.

doi:10.1007/s10875-015-0171-3

Cited by 8 publications

(2 citation statements)

References 9 publications

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“…Patient 3 was previously published in a case report by Yin, et al. ( 5 ), describing pre-CTTI findings. cDGA was suspected at birth based on absent TRECs on newborn screening plus the presence of a ventricular septal defect and solitary kidney.…”

Section: Resultsmentioning

confidence: 99%

Case Report: Nontuberculous mycobacterial infections in children with complete DiGeorge anomaly

Hicks

Agada²,

Yates³

et al. 2023

Front. Immunol.

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Children with complete DiGeorge anomaly (cDGA) have congenital athymia, resulting in severe T cell immunodeficiency and susceptibility to a broad range of infections. We report the clinical course, immunologic phenotypes, treatment, and outcomes of three cases of disseminated nontuberculous mycobacterial infections (NTM) in patients with cDGA who underwent cultured thymus tissue implantation (CTTI). Two patients were diagnosed with Mycobacterium avium complex (MAC) and one patient with Mycobacterium kansasii. All three patients required protracted therapy with multiple antimycobacterial agents. One patient, who was treated with steroids due to concern for immune reconstitution inflammatory syndrome (IRIS), died due to MAC infection. Two patients have completed therapy and are alive and well. T cell counts and cultured thymus tissue biopsies demonstrated good thymic function and thymopoiesis despite NTM infection. Based on our experience with these three patients, we recommend that providers strongly consider macrolide prophylaxis upon diagnosis of cDGA. We obtain mycobacterial blood cultures when cDGA patients have fevers without a localizing source. In cDGA patients with disseminated NTM, treatment should consist of at least two antimycobacterial medications and be provided in close consultation with an infectious diseases subspecialist. Therapy should be continued until T cell reconstitution is achieved.

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Section: Resultsmentioning

confidence: 99%

Case Report: Nontuberculous mycobacterial infections in children with complete DiGeorge anomaly

Hicks

Agada²,

Yates³

et al. 2023

Front. Immunol.

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“…Disseminated disease has been reported in a patient with a known GATA2 mutation (3) and a patient whose clinical history is compatible with GATA2 deficiency (4). Disseminated M. kansasii infection was described in a 13-month-old male with complete DiGeorge syndrome (17). We identified three additional reports of disseminated disease in patients diagnosed with thymic dysplasia (18,19) or alymphoplasia (20), and an additional report in a patient with severe combined immunodeficiency (SCID) who was found to have a rudimentary thymus post mortem (21).…”

Section: Review Of the Literaturementioning

confidence: 95%

Mediastinal and Disseminated Mycobacterium kansasii Disease in GATA2 Deficiency

et al. 2016

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Rationale: Mycobacterium kansasii usually causes chronic pulmonary infections in immunocompetent patients. In contrast, disseminated M. kansasii disease is commonly associated with advanced human immunodeficiency virus infection, but is reported infrequently in other immunocompromised patients.Objectives: To identify common clinical manifestations and potential risk factors for M. kansasii infection in patients with GATA2 deficiency.Methods: We reviewed M. kansasii disease associated with GATA2 deficiency at one institution and disease associated with primary and other immunodeficiencies reported in the literature. Measurements and Main Results:Nine patients with GATA2 deficiency developed M. kansasii infections. Six patients developed disseminated disease. All patients presented with significant mediastinal lymphadenopathy or abscesses. Seven patients had pulmonary risk factors, including six smokers. The majority of patients had low numbers of neutrophils, monocytes, B cells, CD4 1 T cells, and natural killer cells. Other conditions associated with disseminated M. kansasii disease were thymic disorders and IFN-g/IL-12 defects.Conclusions: Disseminated M. kansasii disease involving mediastinal lymph nodes is surprisingly common in GATA2 deficiency, but also occurs in defects of IFN-g synthesis and response. Disseminated M. kansasii should be considered a marker indicating a need to evaluate for immunodeficiency syndromes.

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