Phenotypic variability: Clinical presentation between the 6th year and the 60th year in a family with X-linked agammaglobulinemia [1]

Journal of Allergy and Clinical Immunology

Volumn 113, Issue 4, 2004, Pages 783-785

  Morwood, Karen ^a   Bourne, Helen ^b   Philpot, Ross ^d   Gold, Michael ^c   Gillis, David ^a   Benson, Elizabeth M ^b  

^a INSTITUTE OF MEDICAL AND VETERINARY SCIENCE   (Australia)

^b WESTMEAD HOSPITAL   (Australia)

^c WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^d NONE

Author keywords

[No Author keywords available]

Indexed keywords

BRUTON TYROSINE KINASE; IMMUNOGLOBULIN;

ADULT; BACTERIAL INFECTION; CASE REPORT; CLINICAL FEATURE; EXON; GENE MUTATION; HUMAN; IMMUNE DEFICIENCY; LETTER; LOBAR PNEUMONIA; MALE; PHENOTYPIC VARIATION; PRESCHOOL CHILD; PRIORITY JOURNAL; X LINKED AGAMMAGLOBULINEMIA;

EID: 1942467832     PISSN: 00916749     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jaci.2003.10.061     Document Type: Letter

References (9)

1. Schroeder HW. Primary antibody deficiencies. In: Rich RR, Fleisher TA, Shearer WT, Kotzin BL, Schroeder HW jr, editors. Clinical immunology principles and practise, 2nd ed. New York: Mosby; 2001. p. 34.5-34.6.
2. Conely ME, Fitch-Hilgenberg ME, Cleveland JL, Parolini O, Rohrer J. Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinase. Hum Mol Genet 1994;3:1751-6.
3. Bradley LA, Sweatman AK, Lovering RC, Jones AM, Morgan G, Levinsky RJ, et al. Mutation in the X linked agammaglobulinaemia gene, BTK, using single strand conformation polymorphism analysis. Hum Mol Genet 1994;3:79-83.
4. Kornfeld SJ, Haire RN, Strong SJ, Brigino EN, Tang H, Sung SJ, et al. Extreme variation in X-linked agammaglobulinaemia phenotype in a three generation family. J Allergy Clin Immunol 1997;100:702-6.
5. Vihinen M, Brandau O, Branden LJ, Kwan SP, Lappalainen I, Lester T, et al. BTKbase, mutation database for X-linked agammaglobulinaemia (XLA). Nucl Acids Res 1998;26:242-7.
6. Garred P, Pressler T, Madsen HO, Frederiksen B, Svejgaard A, Hoiby N, et al. Association of mannose binding lection heterogeneity with severity of lung disease and survival in cystic fibrosis. J Clin Invest 1999;104: 431-7.
7. Roy S, Knox K, Segal S, Griffiths D, Moore CE, Welsh KI, et al. MBL genotype and risk of invasive pneumococcal disease: a case control study. Lancet 2002;359:1569-73.
8. Summerfield JA, Ryder S, Sumiya M, Thursz M, Gorchein A, Monteil MA, Turner MW, et al. Mannose binding protein gene mutations associated with unusual and severe infections in adults. Lancet 1995;345: 886-9.
9. Paul MC, Shearer WT. Approach to the evaluation of the immunodeficiency patient. In: Rich RR, Fleisher TA, Shearer WT, Kotzin BL, Schroeder HW Jr, editors. Clinical immunology principles and practice. 2nd ed. New York: Mosby; 2001. p. 33.1-33.11.