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has major subject area list Anemia, Sideroblastic; B-Lymphocytes; Developmental Disabilities; Familial Mediterranean Fever; Immunologic Deficiency Syndromes
has minor subject area list Female; Hearing Loss, Sensorineural; Humans; Infant; Infant, Newborn; Male; Nervous System Diseases; Pedigree; Phenotype; Syndrome
information resource reference Wiseman DH, May A, Jolles S, Connor P, Powell C, Heeney MM, Giardina PJ, Klaassen RJ, Chakraborty P, Geraghty MT, Major-Cook N, Kannengiesser C, Thuret I, Thompson AA, Marques L, Hughes S, Bonney DK, Bottomley SS, Fleming MD, Wynn RF. A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD). Blood. 2013 Jul 04; 122(1):112-23.
label A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD).
Search Criteria
  • Immune
  • syndromes