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

We described a 22-month-old girl, who suffered from a gereralized edema and intermittent diarrhea for 1 month. Intestinal lymphangiectasia was confirmed by endoscopic biopsy. Endoscopic examination revealed showed the characteristic appearance of tiny white flakes scattered in the duodenum, which a histological examination confirmed to be dilated lymph vessels. The other findings from laboratory examinations included lymphopenia, hypoproteinemia, hypogammaglobulinemia and increased fecal a1-antitrypsin clearance. Treatment consisting of a low-fat diet and MCT supplementation was successful. The therapy has resulted in the disappearance of duodenal lesions previously observed endoscopically.
Agammaglobulinemia ; Biopsy ; Diarrhea ; Diet, Fat-Restricted ; Duodenum ; Edema ; Endoscopy ; Female ; Humans ; Hypoproteinemia ; Infant ; Lymphopenia

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

PURPOSE: Hypogammaglobulinemia has been observed in nephrotic syndrome, but its pathophysiology remains unknown. We evaluated the relationship between the serum IgG and albumin levels for children with minimal change nephrotic syndrome(MCNS). METHODS: The levels of immunoglobulin G(IgG), albumin and total cholesterol of a total of 46 children with MCNS(proteinuria >40 mg/m2/h, and serum albumin level <2.5 g/dL) were analyzed. RESULTS: The mean values of albumin, IgG and total cholesterol in MCNS children were 1.7+/-0.3 g/dL, 368+/-143 mg/dL and 431+/-78 mg/dL, respectively. There was an inverse correlation between the albumin values and the total cholesterol values(r=0.68, P=0.0001), whereas there was a direct-proportional correlation between albumin values and the IgG values(r=0.4, P=0.01). CONCLUSION: The IgG level is associated with albumin level, and it may reflect the severity of urinary protein loss in MCNS. Further studies are needed to evaluate this phenomenon.
Agammaglobulinemia ; Child ; Cholesterol ; Humans ; Immunoglobulin G* ; Immunoglobulins ; Nephrosis, Lipoid* ; Nephrotic Syndrome ; Serum Albumin*

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

Pure red cell aplasia (PRCA) and hypogammaglobulinemia are paraneoplastic syndromes that are rarer than myasthenia gravis in patients with thymoma. Good syndrome coexisting with PRCA is an extremely rare pathology. We report the case of a 50-year-old man with thymoma and PRCA associated with Good syndrome who achieved complete PRCA remission after thymectomy and postoperative immunosuppressive therapy, and provide a review of the pertinent literature.
Agammaglobulinemia ; Humans ; Middle Aged ; Myasthenia Gravis ; Paraneoplastic Syndromes ; Pathology ; Red-Cell Aplasia, Pure* ; Thymectomy ; Thymoma