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Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
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Disease definition
A form of constitutional sideroblastic anemia characterized by severe microcytic anemia, B-cell lymphopenia , panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness.
ORPHA:369861
Detailed information
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)
Guidelines
Emergency guidelines
Clinical practice guidelines
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
- Research project(s) (48)
- Clinical trial(s) (1)
- Biobank(s) (13)
- Registry(ies) (35)
- Network of experts (9)
Newborn screening
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