Search PubMed⌕ Search

Biomedical subjects

Mary Ellen Conley

Publications and source records attributed to Mary Ellen Conley.

23 records · Page 2Linked to original sources
PubMed2002

Clinical findings leading to the diagnosis of X-linked agammaglobulinemia.

To evaluate whether the diagnosis of X-linked agammaglobulinemia (XLA) is being made in a timely fashion, the clinical findings leading to the diagnosis of XLA were determined in 82 patients with proven mutations in Bruton's tyrosine kinase (60 patients with sporadic disease and 22 patients with familial disease). Recurrent otitis was seen in almost all of the patients with sporadic XLA who were older than 12 months at the time of diagnosis. However, fewer than 10% of patients were evaluated for immunodeficiency before they were hospitalized for infection; 38% of patients were hospitalized more than once before diagnosis. We conclude that the majority of patients with XLA were recognized to have immunodeficiency during or shortly after their first hospitalization for infection. Most of the patients had a history of recurrent otitis at the time of diagnosis, which when combined with the physical finding of markedly decreased or absent tonsils and cervical lymph nodes, could have alerted physicians to the diagnosis of XLA.

Agammaglobulinaemia Tyrosine Kinase↗
PubMed2002

Early defects in B cell development.

PURPOSE OF REVIEW: Recent clinical studies in patients with genetically proven X-linked or autosomal recessive agammaglobulinemia provide some guidelines that should influence our management of patients with suspected immunodeficiency. RECENT FINDINGS: Males who are at a high risk of having X-linked agammaglobulinemia because they have an affected brother or uncle are often not evaluated for immunodeficiency until they are hospitalized for infection. Some of those who are evaluated are not started on gammaglobulin therapy immediately. More than 10% of patients with X-linked agammaglobulinemia are hospitalized for infection at less than 6 months of age, indicating that patients with known X-linked agammaglobulinemia should be started on therapy by 2-3 months of age. In patients with sporadic X-linked agammaglobulinemia, the incidence of chronic lung disease correlates with the age at diagnosis, highlighting the importance of early diagnosis. Although almost all patients who are diagnosed as having the condition at more than 12 months of age have a history of recurrent otitis, 93% are not evaluated for immunodeficiency until they are hospitalized for infection. Because the physical exam provides a clue to the diagnosis of the condition--unusually small or absent cervical lymph nodes and tonsils--it should be possible to make an early diagnosis in a greater percentage of patients. Patients with autosomal recessive agammaglobulinemia have an earlier onset of disease compared with patients with X-linked agammaglobulinemia and they are more likely to have severe complications of the disease. SUMMARY: There is plenty of room for improvement in the diagnosis and management of patients with defects in early B cell development.

Agammaglobulinemia↗
PubMed2002

Clinical and molecular analysis of patients with defects in micro heavy chain gene.

Autosomal recessive disorders of B cell development are rare and heterogeneous. To determine the proportion of affected patients who have defects in the micro heavy chain (IGHM) gene, we used single-stranded conformational polymorphism analysis to screen genomic DNA from 40 unrelated patients with early onset infections, profound hypogammaglobulinemia, and absent B cells. All of the patients were genotypically normal in BTK, the gene that underlies X-linked agammaglobulinemia. Eight different mutations in the micro heavy chain were identified in 19 members of 12 unrelated families. Four of the mutations were large deletions that removed more than 40 kb of DNA in the IGHM locus. In six of the 12 families, the affected patients had an identical single base pair substitution, a G-->A, at the -1 position of the alternative splice site. Immunoglobulin haplotype analysis showed that this mutation occurred on at least three different haplotypes, indicating that this is a hot spot for mutations. Compared with patients with mutations in Btk, patients with defects in the micro heavy chain had an earlier onset of disease and more complications. Our study indicates that at least 20-30% of patients with autosomal recessive defects in B cell development have mutations in the micro heavy chain.

Adolescent↗