title: Primary immunodeficiency disorders in the developing world: data from a hospital-based registry in India.
abstract: Primary immunodeficiency disorders (PID) are under-reported from the developing world. We present data regarding diagnosis and outcome from a hospital-based registry in India. Forty-seven patients fulfilled diagnostic criteria. Majority were males. Subgroups were disorders of immune dysregulation-29%, B&T-cell abnormalities-28%, predominant antibody deficiencies-23%, other well-defined immunodeficiencies-15%, and phagocyte disorders-4%. Molecular diagnosis was attempted in 12 and was positive in seven. Overall 24 children died. Only three out of 28 children needing stem cell transplant (SCT) underwent the same. Registry data highlights that molecular diagnosis and SCT are a rarity for children with PIDs in the developing world and mortality is high.
authors.affiliation: 1Division of Pediatric Hematology-Oncology and Bone Marrow Transplantation.
authors.forename: Vasant
authors.initials: V
authors.lastname: Chinnabhandar
authors.forename: Satya Prakash
authors.initials: SP
authors.lastname: Yadav
authors.forename: Dinesh
authors.initials: D
authors.lastname: Kaul
authors.forename: I C
authors.initials: IC
authors.lastname: Verma
authors.forename: Anupam
authors.initials: A
authors.lastname: Sachdeva
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D003906:Developing Countries; D005260:Female; D005500:Follow-Up Studies; D006761:Hospitals; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis* / Q000401:mortality / Q000628:therapy*; D007194:India; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D011379:Prognosis; D012042:Registries; D033581:Stem Cell Transplantation; D015996:Survival Rate