Disseminated cryptococcal infection in patient with novel JAK3 mutation severe combined immunodeficiency, with resolution after stem cell transplantation.

Disseminated cryptococcal infection is the second most common cause of death after tuberculosis in acquired immune deficiency syndrome patients. Surprisingly, it has been reported only in few patients with primary immunodeficiency diseases. Herein, we report the clinical presentation and outcome of a 23-month-old boy with novel JAK3 mutation severe combined immunodeficiency disease complicated by severe disseminated cryptococcal infection.

[1]  T. Zaoutis,et al.  Epidemiology of Cryptococcal Infection in Hospitalized Children , 2010, The Pediatric infectious disease journal.

[2]  D. Kontoyiannis,et al.  Is it safe to proceed with stem cell transplant in cancer patients treated for cryptococcal infection? A focus on recent IDSA cryptococcal guidelines. , 2010, Clinical infectious diseases : an official publication of the Infectious Diseases Society of America.

[3]  Donald B Kohn,et al.  Update on gene therapy for immunodeficiencies. , 2010, Clinical immunology.

[4]  P. Narciso,et al.  Disseminated cryptococcosis in an HIV-negative patient. , 2009, International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases.

[5]  J. Metcalf,et al.  Idiopathic CD4+ lymphocytopenia: natural history and prognostic factors. , 2008, Blood.

[6]  A. Casadevall,et al.  New insights on the pathogenesis of invasive Cryptococcus neoformans infection , 2007, Current infectious disease reports.

[7]  R. Buckley,et al.  Unusual clinical and immunologic manifestations of transplacentally acquired maternal T cells in severe combined immunodeficiency. , 2007, The Journal of allergy and clinical immunology.

[8]  C. Specht,et al.  The molecular basis for the immunogenicity of Cryptococcus neoformans mannoproteins. , 2006, FEMS yeast research.

[9]  D. Stevens,et al.  Efficacy of Recombinant Gamma Interferon for Treatment of Systemic Cryptococcosis in SCID Mice , 2001, Antimicrobial Agents and Chemotherapy.

[10]  L. Pirofski,et al.  Cryptococcosis in children with AIDS. , 1999, Clinical infectious diseases : an official publication of the Infectious Diseases Society of America.

[11]  Y. Weisman,et al.  Cryptococcal meningitis in a child with hyperimmunoglobulin E syndrome , 1995, Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology.

[12]  N. Matsuo,et al.  Hyper‐IgM immunodeficiency with disseminated cryptococcosis , 1994, Acta paediatrica.

[13]  A. Goldman,et al.  Disseminated cryptococcosis in an infant with severe combined immunodeficiency , 1982 .

[14]  M. Lindegren,et al.  Mutations in genes required for T-cell development:IL7R, CD45, IL2RG, JAK3, RAG1, RAG2, ARTEMIS, and ADA and severe combined immunodeficiency: HuGE review , 2004, Genetics in Medicine.