Skeletal abnormalities and successful hematopoietic stem cell transplantation in patients with reticular dysgenesis

[...]this is a rare demonstration of a long-term follow-up on a successful HSCT in a genetically proved case of RD. [...]these findings emphasize the critical need for a prompt definitive diagnosis of RD and subsequent avoidance of G-CSF, which is ineffective in patients with this condition.

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Bibliographic Details
Published in:Journal of allergy and clinical immunology 2013-10, Vol.132 (4), p.993-996
Main Authors: Al-Zahrani, Daifulah, MD, Al-Ghonaium, Abdulaziz, MD, Al-Mousa, Hamoud, MD, Al-Kassar, Ahmad, MT, Roifman, Chaim M., MD
Format: Article
Language:English
Subjects:
Adenylate Kinase - genetics
Allergy and Immunology
Biological and medical sciences
Bone marrow
Fundamental and applied biological sciences. Psychology
Fundamental immunology
Hematopoietic Stem Cell Transplantation - methods
Humans
Immune system
Immunopathology
Infant
Leukopenia - diagnosis
Leukopenia - genetics
Leukopenia - pathology
Leukopenia - therapy
Lymphocytes
Male
Medical sciences
Mutation
Radiography
Ribs - abnormalities
Ribs - diagnostic imaging
Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis
Severe Combined Immunodeficiency - diagnosis
Severe Combined Immunodeficiency - genetics
Severe Combined Immunodeficiency - pathology
Severe Combined Immunodeficiency - therapy
Stem cells
Transplants & implants
Treatment Outcome
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Description
Summary:[...]this is a rare demonstration of a long-term follow-up on a successful HSCT in a genetically proved case of RD. [...]these findings emphasize the critical need for a prompt definitive diagnosis of RD and subsequent avoidance of G-CSF, which is ineffective in patients with this condition.
ISSN:0091-6749
1097-6825
DOI:10.1016/j.jaci.2013.04.055