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

J Allergy Clin Immunol. 2013 Oct;132(4):993-6. doi: 10.1016/j.jaci.2013.04.055. Epub 2013 Jun 12.

Authors

Daifulah Al-Zahrani¹, Abdulaziz Al-Ghonaium, Hamoud Al-Mousa, Ahmad Al-Kassar, Chaim M Roifman

Affiliation

¹ Immunology and Allergy, Pediatric Department, King Abdulaziz Medical City-WR, Jeddah, Saudi Arabia. Electronic address: AAIPed@gmail.com.

PMID: 23763981
DOI: 10.1016/j.jaci.2013.04.055

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adenylate Kinase / genetics
Hematopoietic Stem Cell Transplantation / methods*
Humans
Infant
Leukopenia / diagnosis
Leukopenia / genetics
Leukopenia / pathology*
Leukopenia / therapy*
Male
Mutation
Radiography
Ribs / abnormalities*
Ribs / diagnostic imaging
Severe Combined Immunodeficiency / diagnosis
Severe Combined Immunodeficiency / genetics
Severe Combined Immunodeficiency / pathology*
Severe Combined Immunodeficiency / therapy*
Treatment Outcome

Substances

Adenylate Kinase
adenylate kinase 2

Supplementary concepts

Reticular dysgenesis