European Journal of Pediatrics

, Volume 166, Issue 3, pp 207–210 | Cite as

X-linked severe combined immunodeficiency (X-SCID) with high blood levels of immunoglobulins and Aspergillus pneumonia successfully treated with micafangin followed by unrelated cord blood stem cell transplantation

  • Shinichi Kobayashi
  • Shizuko Murayama
  • Osamu Tatsuzawa
  • Goro Koinuma
  • Kazuteru Kawasaki
  • Chikako Kiyotani
  • Masaaki Kumagai
Original Paper

Abstract

In this report, we describe a patient with X-linked severe combined immunodeficiency (X-SCID) who had high serum IgG, IgA, and IgM levels. The boy did well until 6 months of age, when he developed interstitial pneumonia caused by Aspergillus species, with a white cell count of 12,840/μL and only 10% lymphocytes; IgG, 991 mg/dL; IgA, 65 mg/dL; IgM, 472 mg/dL. Cell markers showed only 6.3% CD3, 2.1% CD4, 0.7% CD8, but 92% CD19 and 0.1% CD16+CD56+ (NK cells). A mutation was detected within exon 2 (C196 A→C), leading to the substitution of proline for glutamine, which has not been reported previously. The boy was successfully treated with the new antifungal drug, micafangin (MCFG), at 5 mg/kg/day for 89 days. After resolution of the pneumonia, the patient underwent successful hematopoietic stem cell transplantation with completely matched unrelated female cord blood. The CD34 stem cell dose was 3.4×104 cells/kg. In conclusion, MCFG can be a first line agent for Aspergillus pneumonia in immunocompromised hosts.

Keywords

X-SCID Micafangin Paraprotein Cord blood transplantation 

Abbreviations

SCID

Severe combined immunodeficiency

X-SCID

X-linked severe combined immunodeficiency

Notes

Acknowledgment

We thank Dr. Satoshi Kume of the Institute of Development, Aging and Cancer, Tohoku University, Japan, for genetic analysis of the patient samples.

References

  1. 1.
    Buckley RH (2002) Primary cellular immunodeficiencies. J Allergy Clin Immunol 109(5):747–757PubMedCrossRefGoogle Scholar
  2. 2.
    Buckley RH, Shiff SE, Schiff RI, Market ML, Williams LW, Roberts JJ, Myers LA, Ward FE (1999) Hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency. N Engl J Med 340(7):508–516PubMedCrossRefGoogle Scholar
  3. 3.
    David DW (2003) Echinocandin antifungal drugs. Lancet 362(9390):1142–1151CrossRefGoogle Scholar
  4. 4.
    Fisher A, Notarangelo LD (2004) Combined immunodeficiencies. In: Stiehm ER, Ochs HD, Winkelstein JA (eds) Immunological disorders in infants and children, 5th edn. Elsevier Saunders, Philadelphia, Pennsylvania, pp 447–479Google Scholar
  5. 5.
    Fischer A (2001) Primary immunodeficiency diseases: an experimental model for molecular medicine. Lancet 357(9271):1863–1869PubMedCrossRefGoogle Scholar
  6. 6.
    Ghory P, Schiff S, Byckley R (1986) Appearance of multiple benign paraproteins during early engraftment of soy lectin T cell-depleted haploidentical bone marrow cells in severe combined immunodeficiency. J Clin immunol 6(2):161–169PubMedCrossRefGoogle Scholar
  7. 7.
    Herbrecht R, Denning DW, Patterson TF, Benett JE, Greene RE, Oestmann JW, Kern WV, Marr KA, Ribaud P, Lortholary O, Sylvester R, Rubin RH, Wingard JR, Stark P, Durand C, Caillot D, Thiel E, Chandrasekar PH, Hodges MR, Schlamm HT, Troke PF, Pauw B (2002) Voriconazole versus amphotericin B for primary therapy of invasive aspergillosis. N Engl J Med 347(6):408–415PubMedCrossRefGoogle Scholar
  8. 8.
    Stephan JL, Viekoba V, Le Deist F, Blanche S, Donadieu J, De Saint-Basile G, Durandy A, Gricelli C, Fisher A (1993) Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 patients. J Pediatr 123(4):565–572Google Scholar
  9. 9.
    Walsh TJ, Pappas P, Winston DJ, Lazarus MH, Petersen F, Raffalli J, Yanovich S, Stiff P, Greenberg R, Donowitz G, Lee J (2002) Voriconazole compared with liposomal amphotericin B for empirical antifungal therapy in patients with neutropenia and persistent fever. N Engl J Med 346(4):225–234PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag 2006

Authors and Affiliations

  • Shinichi Kobayashi
    • 1
  • Shizuko Murayama
    • 1
  • Osamu Tatsuzawa
    • 1
  • Goro Koinuma
    • 2
  • Kazuteru Kawasaki
    • 2
  • Chikako Kiyotani
    • 3
  • Masaaki Kumagai
    • 3
  1. 1.Division of Rheumatology and Infectious DiseasesNational Center for Child Health and DevelopmentTokyoJapan
  2. 2.Division of PulmonologyNational Center for Child Health and DevelopmentTokyoJapan
  3. 3.Division of HematologyNational Center for Child Health and DevelopmentTokyoJapan

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