References
- 1. Etzioni A, Ochs HD. The hyper IgM syndrome-an evolving story. Pediatr Res. 2004 Oct;56(4):519-25. DOI: 10.1203/01.PDR.0000139318.65842.4A
- 2. Lopez-Granados E, Temmerman ST, Wu L, Reynolds JC, Follmann D, Liu S et al. Osteopenia in X linked hyper-IgM syndrome reveals a regulatory role for CD40 ligand in osteoclastogenesis. Proc Natl Acad Sci USA. 2007 Mar;104:5056-61. DOI: 10.1073/ pnas.0605715104
- 3. Durandy A, Peron S, Fischer A. Hyper-IgM syndromes. Curr Opin Rheumatol. 2006 Jul;18(4):369-76. DOI: 10.1097/01.bor.0000231905.12172.b5
- 4. Hanson EP, Monaco-Shawver L, Solt LA, Madge LA, Banerjee PP, May MJ et al. Hypomorphic nuclear factor-kappaB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity. J Allergy Clin Immunol. 2008 Dec;122(6):1169-77. DOI: 10.1016/j.jaci.2008.08.018
- 5. Angulo I, Vadas O, Garcon F, Hall EB, Plagnol V, Leahy TR et al. Phosphoinositide 3-Kinase δ Gene Mutation Predisposes to Respiratory Infection and Airway Damage. Science. 2013 Nov;342(6160):866-71. DOI: 10.1126/science.1243292
- 6. Deau MC, Heurtier L, Frange P, Suarez F, Bole-Feysot C, Nitschke P et al. A human immunodeficiency caused by mutations in the PIK3R1 gene. J Clin Invest. 2014 Sep;124(9): 3923-8. DOI: 10.1172/JCI75746
- 7. Cioffi M, Molinari AM, Gazzerro P, Di Finizio B, Fratta M, Deufemia A et al. Serum osteocalcin in 1643 healthy children. Clinical Chemistry. 1997;43(3):543-5.
- 8. Karaca NE, Durandy A, Gulez N, Aksu G, Kutukculer N. Study of patients with Hyper-IgM type IV phenotype who recovered spontaneously during late childhood and review of the literature. Eur J Pediatr. 2011 Aug;170:1039-47. DOI: 10.1007/s00431-011-1400-2