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 characterized by markedly reduced number of B lymphocytes, panhypogammaglobulinemia, recurrent bacterial infections in the first few years of life because of genetic defect for Bruton's tyrosine kinase at Xq22 region. Although XLA is a typical humoral immunodeficiency disease, severe neutropenia is sometimes presented in acute infection phase. We report a 23-month-boy with XLA who presented prolonged pneumonia, severe neutropenia over one month and profound panhypogammaglobulinemia. As his pneumonia improved, neutropenia subsided, but panhypogammaglobulinemia sustained. He was confirmed to have a point mutation in Btk-gene by direct-sequencing of Btk-gene.
Agammaglobulinemia* ; B-Lymphocytes ; Bacterial Infections ; Neutropenia* ; Pneumonia ; Point Mutation ; Protein-Tyrosine Kinases

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*