AUTOSOMAL RECESSIVE AGAMMAGLOBULINEMIA AND A RARE GENETIC DEFECT: CD79A
- Saliha Esenboğa, Turkey
Abstract
Background and Aims
Any disorder that develops during the development or differentiation of B cells may cause hypo / agamaglobulinemia by affecting immunoglobulin production from plasma cells.
Methods
The clinical , laboratory characteristics of patients, mutations detected inCD79A gene are shown in Table 1.
Results
Patient1 A 12-month-old girl was admitted with recurrent bronchiolitis and neutropenia. She had been suffering from recurrent diarrhea since 15 days old. There was no consanguinity between parents(coming from same village) She was found to have agammaglobulinemia, CD 19 <1%. IVIg treatment has begun.
Patient2 A 13-month-old male patient presented with progressive muscle-weakness without focal neurological deficit. He had been suffering from recurrent pneumonia and otitis media from 8 months of age and the laboratory evaluation revealed agammaglobulinemia, CD19 <0.1%. VIg therapy was initiated. Muscle weakness improved in thefirst 3 months after IVIg. Dermatomyositis-like skin findings were detected at 2 yearsofage. He died attheage of 8 due to pneumonia. Since there was no relationship between the parents, BTK mutation was found to be negative.
Patient3 A 15-month-old girl applied with the complaints of URTI, pneumonia and diarrhea. She had URTI at 3 months ofage for the first time and had recurrent pneumonia and needed iv.antibiotic treatment and hospitalisations in thefollowing period. There was consanguinity. Immunologicalevaluation revealed agamaglobulinemia, CD19 0%.IVIg replacement therapy was started.
Conclusions
Igα-deficiency leads a block in the transition from pro-B cell to pre-B cell during B cell differentiation. Enteroviral infections, growth retardation, neutropenia, recurrent bronchitis, otitis, diarrhea, and vaccine-related polio may occur during the course of the disease.