No abstract available.
Agammaglobulinemia*

No abstract available.
Agammaglobulinemia*

No abstract available.
Agammaglobulinemia* ; Pediatrics*

In 1980, the clinical syndrome of X-linked agammaglobulinemia and isolated growth hormone defieiency (XLA/IGHD) was first described by Fleisher. We report here 25-year old man with isolated growth hormone deficiency and X-linked agammaglobulinemia. His height was below the third percentile. He had recurrent sinopulmonary infection, lacked circulating B lympocytes and had deficient growth hormone.
Adult ; Agammaglobulinemia* ; Dwarfism, Pituitary ; Growth Hormone ; Humans

Hypoglobulinemia is characterized by functional or quantitative abnormalities of one or more components of the immune system. It is typically manifests as recurrent infections that usually start in childhood. These recurrent infections cause various clinical symptoms. Infectious or aseptic arthritis can develop, and especially in bone and joint abnormalities. No case of arthritis in a patients with hypogammaglobulinemia has been reported, so we report on the management of osteoarthritis of the hip in a hypogammaglobulinemia patient.
Agammaglobulinemia ; Arthritis ; Hip ; Humans ; Immune System ; Joints ; Osteoarthritis ; Osteoarthritis, Hip

Thymomas are associated with different paraneoplastic syndromes, with the most clinically important association being with myasthenia gravis, hypogammaglobulinemia, and pure red cell aplasia (PRCA). The optimal therapy for PRCA that complicates a thymoma is unknown, given the rarity of the clinical situation. It has been suggested that remission following surgery alone is uncommon and most patients will require some other form of therapy. We report a case of PRCA with a thymoma in a 59-year-old man who remained in complete remission of the PRCA after surgical resection of the thymoma.
Agammaglobulinemia ; Humans ; Middle Aged ; Myasthenia Gravis ; Paraneoplastic Syndromes ; Red-Cell Aplasia, Pure* ; Thymoma*

An ABO discrepancy was observed in a 19-year-old man clinically diagnosed as congenital hypogammaglobulinemia. The patient's red cell was typed as group O, and his serum had no ABO isoagglutinins. Absence of A antigen and B antigen on patient's RBC was confirmed by adsorption- elution test and saliva test. A-transferase and B-transferase activities were not demonstrated in patient's serum. Patient's serum protein electrophoresis revealed hypogammaglobulinemia pattern, and immunoglobulin levels were markedly decreased. Complete absence of B lymphocytes was observed on patient's lymphocyte subset profile. Patient's father and mother were typed as blood group O and no abnormalities were recognized in their serum protein electrophoresis patterns and immunoglobulin concentration.
Agammaglobulinemia ; B-Lymphocytes ; Electrophoresis ; Fathers ; Humans ; Immunoglobulins ; Lymphocyte Subsets ; Mothers ; Saliva ; Young Adult

We report a case of group O losing anti-B selectively. A 25-year-old male donated blood; on the donor test an ABO discrepancy was noted, and a further evaluation study was performed. ABO genotyping with an allele specific polymerase chain reaction assay revealed O/O and DNA sequencing of exons 6 and 7 of the ABO gene showed O01/O02. The serum gammaglobulin level was decreased and only 0.2% CD19 pan-B positive lymphocytes were present in a subset of lymphocytes. In a previous donor study, anti-B of the patient was lost from a third donor study and was still not detected.
Adult ; Agammaglobulinemia ; Alleles ; Exons ; Humans ; Lymphocytes ; Male ; Polymerase Chain Reaction ; Sequence Analysis, DNA ; Tissue Donors

X-linked agammaglobulinemia (XLA) is a primary inherited B-cell immunodeficiency. The prevalence of neoplastic disease in patients with XLA is approximatedly 0.7%. The most frequent tumor is lymphoreticular malignancy. We report a case of hepatocellular carcinoma (HCC) in a 13-year-old boy with XLA, after probable maternal transmission of hepatitis B virus. The authors consider that the vertical transmission of hepatitis B virus might play an important role in the development of HCC in a child with XLA who could not eliminate hepatitis B virus effectively.
Adolescent ; Agammaglobulinemia* ; B-Lymphocytes ; Carcinoma, Hepatocellular* ; Child* ; Hepatitis B virus* ; Hepatitis B* ; Hepatitis* ; Humans ; Male ; Prevalence

BACKGROUND: A and B transferase are glycosyltransferase that transfer N-acetylgalactosamine and D-galactose to H antigen, respectively and lead to the expression of A and B phenotypes in ABO blood group system. Reduced or no activities of serum A and B transferase were observed in some A and B subgroup individuals. Determining the activities of serum A and B transferase can be useful in discriminating rare A and B subgroups. MATERIALS AND METHODS: ABO typing, saliva test, adsorption elution test and serum transferase assay were performed on samples from 12 individuals showing ABO discrepancy or weakened cell typing reactions which were referred to the Seoul National University Hospital to confirm their ABO blood types. Serum transferase activity was assayed by determining the ability of serum to convert group O RBCs into A or B cells. RESULTS: Determination of serum ABO transferase activity was useful in the identification of Ael (3 cases), B3 (2 cases), Bm (1 case), Am (1 case), Bx (1 case), O with weakened anti-A or anti-B (3 cases), and A without anti-B due to hypogammaglobulinemia (1 case). CONCLUSION: Determining serum A and B glycosyltransferase activity was proven to be a simple and useful tool for the classification of several ABO subgroups.
ABO Blood-Group System ; Adsorption ; Agammaglobulinemia ; B-Lymphocytes ; Classification* ; Galactose ; Phenotype ; Saliva ; Seoul ; Transferases