Retinitis pigmentosa and common variable immunodeficiency disease: associated or separate?
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Many causes for ABO discrepancy between red blood cell and serum testing have been cited in the literature. ABO discrepancy due to weak or absent reverse type is most often seen at the extremes of age. We report a case of ABO discrepancy in a 25-year-old woman who presented for wisdom teeth extraction. Initial serologic workup revealed total absence of isohemagglutinin anti-B in this group A, D+ individual. Further evaluation revealed decreased levels of all classes of immunoglobulins and a medical history significant for multiple episodes of infection. Based on the patient's history and laboratory data, she was diagnosed with common variable immunodeficiency (CVID). CVID can cause ABO discrepancy in an adult patient because of an absent ABO reverse type.
Studies were performed on the binding of tritiated adenosine and its analogues, 5'-N-ethylcarboxamide adenosine (NECA) and N6-phenylisopropyladenosine (PIA), to human peripheral blood lymphocytes. These revealed binding only of adenosine (Kd, 1-10 microM, 14,000 binding sites/cell), which was abolished by dipyridamole, a specific adenosine transport inhibitor, suggesting that the binding is to the nucleoside transporter. The absence of high affinity (Kd less than or equal to 1 microM) binding of adenosine or of the two analogues. NECA and PIA suggests that the previously reported effects of adenosine on cAMP formation are not mediated by cell surface specific nucleoside receptors. Binding of adenosine to the carrier in lymphocytes from patients with common variable immunodeficiency was similar to those from control subjects.
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A man with long-standing common variable hypogammaglobulinemia was treated with chemotherapy and local radiation for diffuse mixed lymphoma. He continues in complete remission 42 months after the completion of therapy. Vigorous therapy for lymphoma can be used in the face of preexistent immunodeficiency. Complete staging and appropriate combination chemotherapy or radiation therapy should be carried out for lymphomas that occur in certain immunodeficient patients.
The X chromosome inactivation analysis of eight female relatives was performed to elucidate the X chromosome gene defect of six male hypogammaglobulinaemic individuals. The patients had diminished numbers of circulating B-cells and no relevant family history. The methylation status of three X-linked genes, phosphoglycerate kinase, hypoxanthine phosphoribosyl transferase and DXS255, was determined on DNA from Epstein-Barr virus-transformed B-cell lines established from the female relatives. The methylation pattern of at least one gene was informative in all eight females examined. While both alleles were equally methylated in four of eight females, the remaining four female relatives of three hypogammaglobulinaemia patients exhibited a non-random methylation pattern in their B-cells, suggesting that these three patients represented sporadic cases of X-linked agammaglobulinaemia (XLA). The clinical or immunological status of these three patients did not differ from the remaining two who had early onset hypogammaglobulinaemia and who were tentatively diagnosed as having common variable immunodeficiency. The sixth patient had recurrent infections after undergoing surgical removal of a brain tumour at 22 years of age, although his immunological features did not distinguish him from the other patients. X chromosome inactivation analysis can be useful in differentiating XLA from hypogammaglobulinaemia in male patients.
The clinical course of a child who developed an adenocarcinoma of the stomach at 11 years of age is described. At 6 years of age, the child was evaluated for abdominal pain, weight loss, and vomiting. She was found to have hemorrhagic, atrophic gastritis, achlorhydria, and panhypogammaglobulinemia. The gastritis improved with corticosteroid therapy, but relapsed each time that the steroid dosage was tapered. The clinical course was marked by severe growth failure, recurrent infections, and intermittent abdominal pain. Radiographic studies done when the patient was 11 years of age demonstrated a large fungating mass on the lesser curvature of the stomach. Endoscopy and biopsies done 1 year previously had not revealed any sign of malignancy. A radical gastrectomy was performed. Microscopic studies revealed multifocal adenocarcinoma of the stomach with no evidence of invasion of the submucosa or local lymph nodes. The patient died of Candida septicemia and pneumonia 6 months after the gastrectomy. There was no evidence of recurrence of the tumor on autopsy. The relationship between common variable immunodeficiency and gastrointestinal disease is described.
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