Human pathology

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severe combined immunodeficiency

SCIDs

Types (Exemples)

- T-, B+, NK- SCID (MIM.600802) with JAK3 mutations

Synospsis

- opportunistic infections

  • disseminated cryptococcosis (7076229)

References

- Fischer A, Hacein-Bey S, Le Deist F, Soudais C, Di Santo JP, de Saint Basile G, Cavazzana-Calvo M. Gene therapy of severe combined immunodeficiencies. Immunol Rev. 2000 Dec;178:13-20. PMID: 11213798