title: Disseminated cryptococcal infection in patient with novel JAK3 mutation severe combined immunodeficiency, with resolution after stem cell transplantation.
abstract: 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.
authors.affiliation: Paediatric Allergy and Clinical Immunology, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
authors.forename: Zobaida
authors.initials: Z
authors.lastname: Alsum
authors.forename: Bandar
authors.initials: B
authors.lastname: Al-Saud
authors.forename: Abdulaziz
authors.initials: A
authors.lastname: Al-Ghonaium
authors.forename: Ibrahim
authors.initials: I
authors.lastname: Bin Hussain
authors.forename: Osama
authors.initials: O
authors.lastname: Alsmadi
authors.forename: Hamoud
authors.initials: H
authors.lastname: Al-Mousa
authors.forename: Mohab
authors.initials: M
authors.lastname: Ayas
authors.forename: Hasan
authors.initials: H
authors.lastname: Al-Dhekri
authors.forename: Rand
authors.initials: R
authors.lastname: Arnaout
authors.forename: Saleh
authors.initials: S
authors.lastname: Al-Muhsen
mesh_terms: D003453:Cryptococcosis / Q000175:diagnosis* / Q000473:pathology*; D006801:Humans; D007223:Infant; D053616:Janus Kinase 3 / Q000172:deficiency* / Q000235:genetics; D008297:Male; D016511:Severe Combined Immunodeficiency / Q000150:complications* / Q000235:genetics; D033581:Stem Cell Transplantation; D016896:Treatment Outcome
chemical_list: C507933:JAK3 protein, human; D053616:Janus Kinase 3