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At least 19 recordsLinked to original sources
PubMed1994

Genomic organization and structure of Bruton agammaglobulinemia tyrosine kinase: localization of mutations associated with varied clinical presentations and course in X chromosome-linked agammaglobulinemia.

X chromosome-linked agammaglobulinemia is a life-threatening disease that involves a failure in normal development of B lymphocytes and is associated with missense mutations in BTK, a gene encoding a cytoplasmic tyrosine kinase (Bruton agammaglobulinemia tyrosine kinase, EC 2.7.1.112), a member of the Tec family of protein-tyrosine kinases. The genomic organization has been determined by using conventional restriction fragment mapping, extended DNA sequencing, and PCR fragment-sizing approaches. The DNA sequences of the 18 coding exons composing BTK and their flanking-region sequences are reported; an additional exon(s) encodes a 5' untranslated segment. Single-base-pair substitutions and 4-nt deletions resulted in amino acid replacement, premature termination, frameshift, and exon deletion in a group of X chromosome-linked agammaglobulinemia patients exhibiting different clinical presentations and courses. The nature of the mutations is interpreted in terms of the genomic organization of the BTK gene and the disease course in individual patients. Several examples are found in which the same mutation occurs in unrelated patients, and one of these mutations occurs at the same codon that is substituted in the murine form of BTK, resulting in X chromosome-linked immunodeficiency disease. Considerable variation in presentation and disease course in X chromosome-linked agammaglobulinemia appears associated with the nature and position of different missense mutations.

Agammaglobulinaemia Tyrosine Kinase↗
PubMed1985

Pre-B cells in agammaglobulinemia: evidence for disease heterogeneity among affected boys.

Six immunodeficient boys were found to have agammaglobulinemia and lack circulating B cells. These patients could be divided into two groups based on bone marrow findings and clinical course. In one group, pre-B cells and lymphocytes were present at normal frequencies and in normal absolute numbers. Recurrent serious infections were documented in the first few months of life in these patients, and this consequently led to early diagnosis. In the second group, pre-B cells were virtually undetectable. Patients in this group did not present with recurrent infections until the second year and were thus diagnosed later than were those in the first group. Childhood agammaglobulinemia with deficiency of both pre-B and B lymphocytes appears to be a different disease from X-linked infantile agammaglobulinemia. This disease may involve an arrest of B-lineage cell development at an earlier stage than that responsible for X-linked agammaglobulinemia.

Adolescent↗
PubMed2004

Efficacy of intravenous immunoglobulin on the prevention of pneumonia in patients with agammaglobulinemia.

Agammaglobulinemia is characterized by failure of B-cell differentiation (hypogammaglobulinemia) and increased susceptibility to bacterial infections. The present study was set up in order to evaluate the effectiveness of intravenous immunoglobulin (IVIG) treatment on the incidence of pneumonia in patients with agammaglobulinemia. We carried out chart reviews of 23 patients with agammaglobulinemia (mean age 11.5+/-5.4 years), who had been observed in a 22-year period (July 1981-January 2003) in Iran's referral center for primary immunodeficiency disorders. Nineteen of these 23 (82.5%) had been infected with pneumonia at least once before receiving the immunoglobulin treatment and 11 of them had experienced multiple episodes. During treatment with gamma-globulin - over a mean period of 6.8+/-4.1 years (range: 0.8-15.3 years) - the incidence of pneumonia requiring treatment or hospitalization decreased from 0.82 to 0.12 per patient per year (P=0.006). During IVIG replacement, hospitalization due to pneumonia decreased from 0.58 to 0.05 per patient per year (P=0.08) and the immunoglobulin G level (mean+/-S.D.) changed from 66.2+/-63.9 (range: 0-210 mg dl(-1)) to 552.4+/-199.1 (range: 136-942 mg dl(-1)) (P<0.001). Treatment of agammaglobulinemia with IVIG significantly reduced the incidence of pneumonia and hospital admission. Intensive management and regular monitoring is required in order to fully prevent severe respiratory complications.

Adolescent↗
PubMed1996

Mutations in the mu heavy-chain gene in patients with agammaglobulinemia.

BACKGROUND: Most patients with congenital hypogammaglobulinemia and absent B cells are males with X-linked agammaglobulinemia, which is caused by mutations in the gene for Bruton's tyrosine kinase (Btk); however, there are females with a similar disorder who do not have mutations in this gene. We studied two families with autosomal recessive defects in B-cell development and patients with presumed X-linked agammaglobulinemia who did not have mutations in Btk. METHODS: A series of candidate genes that encode proteins involved in B-cell signal-transduction pathways were analyzed by linkage studies and mutation screening. RESULTS: Four different mutations were identified in the mu heavy-chain gene on chromosome 14. In one family, there was a homozygous 75-to-100-kb deletion that included D-region genes, J-region genes, and the mu constant-region gene. In a second family, there was a homozygous base-pair substitution in the alternative splice site of the mu heavy-chain gene. This mutation would inhibit production of the membrane form of the mu chain and produce an amino acid substitution in the secreted form. In addition, a patient previously thought to have X-linked agammaglobulinemia was found to have an amino acid substitution on one chromosome at an invariant cysteine that is required for the intrachain disulfide bond and, on the other chromosome, a large deletion that included the immunoglobulin locus. CONCLUSIONS: Defects in the mu heavy-chain gene are a cause of agammaglobulinemia in humans. This implies that an intact membrane-bound mu chain is essential for B-cell development.

Agammaglobulinemia↗
PubMed1978

Induction of human immunoglobulin synthesis and secretion in somatic cell hybrids of mouse myeloma and human B lymphocytes from patients with agammaglobulinemia.

Somatic cell hybrid clones were isolated from the fusion of RPC 5,4 mouse myeloma cells and B lymphocytes from three patients with agammaglobulinemia. One patient had X-linked agammaglobulinemia; the remaining two patients had common varied agammaglobulinemia. All three patients had B lymphocytes which fail to secrete immunoglobulin. The hybrid nature of the clones was established by examination of metaphase chromosome spreads. Most of the clones from all three patients expressed surface immunoglobulin of mouse and human parental origin. Clones from two of the patients had fewer cells with surface Ig than hybrids from normal persons, while clones from the third patient had large numbers of surface Ig fluorescent cells. Most of the clones from all three patients synthesized and secreted human and mouse immunoglobulin. As determined by sodium dodecyl sulfate acrylamide gel electrophoresis of radioactively labeled proteins, clones from each of the patients produced human gamma, alpha, and mu-heavy chains. These studies demonstrate the presence of functional structural genes coding for human immunoglobulin heavy chains in B lymphocytes of patients with agammaglobulinemia. Further, they represent induction in the somatic cell hybrids of a gene product not expressed in the parental B lymphocytes.

Agammaglobulinemia↗
PubMed1973

Identification and characterization of subpopulations of lymphocytes in human peripheral blood after fractionation on discontinuous gradients of albumin. The cellular defect in X-linked agammaglobulinemia.

Normal human peripheral blood lymphocytes were separated on discontinuous gradients of 17-35% bovine serum albumin (BSA) into nine fractions. Three subpopulations of lymphocytes were obtained. One occupies the top third of the gradient (fractions 1-3, 17-23% BSA) and is rich in cells characterized by a high spontaneous rate of DNA synthesis and by the ability to give rise to colony-forming units. The middle portion of the gradient (fractions 4 and 5, 23-27% BSA) is rich in thymus-derived (T) lymphocytes identified by their vigorous response to mitogens and by their ability to form rosettes with sheep erythrocytes (E). The third subpopulation at the bottom of the gradient (fractions 6-9, 27-35% BSA) is rich in bone marrow-derived (B) lymphocytes capable of staining with fluorescent antiimmunoglobulin antisera and of forming rosettes with EAC1423. The peripheral blood lymphocytes of five boys with proved X-linked agammaglobulinemia and two with probable X-linked agammaglobulinemia were found to be totally deficient in B lymphocytes (fractions 6-9) and lacked the subpopulation identified by immunofluorescent staining or rosette formation with EAC1423. One boy with proved X-linked agammaglobulinemia and two with probable X-linked agammaglobulinemia possessed a normal amount of circulating B lymphocytes.

Adolescent↗
PubMed1996

[A case of agammaglobulinemia with chronic enteroviral meningomyelitis].

We report a 30-year-old man with agammaglobulinemia and chronic aseptic meningomyelitis. The patient was diagnosed as having X-linked recessive agammaglobulinemia at 4 years of age and gammaglobulin supplementation was started. He had TIA-like episodes several times since 25 years of age. He developed difficulty in micturition and impotence at 29 years of age. Neurological examination revealed bilateral deafness, contracture of knee joints, slight weakness and areflexia in the lower extremities, Babinski sign and dysuria. There was sensory disturbance in the lower extremity on the left. There was not consciousness disturbance or meningeal irritation sign. The cerebrospinal fluid findings included pleocytosis and increase in protein. Enterovirus RNA was detected in the cerebrospinal fluid by the modified polymerase chain reaction (PCR) method. MRI of lower spinal cord showed syrinx formation in the lumbosacral cord and CT of the brain showed bilateral temporal lobe atrophy and temporoparietal subdural fluid collection on the left. 123I-IMP SPECT showed decrease in the cerebral blood flow in the whole brain. EEG showed diffuse slow activity, suggesting the subclinical encephalopathy. Chronic enteroviral meningoencephalitis with agammaglobulinemia (CEMA) is one of the complications of agammaglobulinemia. However, myelitis without apparent encephalopathy is very rare. To our knowledge, there have been no reports of spinal sylinx formation in CEMA.

Adult↗
PubMed2004

Search for poliovirus long-term excretors among patients affected by agammaglobulinemia.

Patients with agammaglobulinemia may excrete enteroviruses, including vaccine-derived poliovirus, for prolonged periods of time. This poses a risk to the patients but it also may pose a risk to the population after eradication of poliovirus and the cessation of routine vaccination. To assess this risk, a pilot study was performed to identify potential poliovirus long-term excretors in a cohort of 38 patients with a definite/presumptive diagnosis of X-linked agammaglobulinemia (XLA). Stool samples were analyzed to detect any polio or other enteroviruses replicating in the gut and neutralizing antibodies against polioviruses were measured in the sera. No viruses were isolated from the stool samples and most sera had neutralizing antibody levels against all three poliovirus serotypes considered by the WHO to be protective in immunocompetent individuals. This suggests that long-term excretion of enteroviruses in patients with agammaglobulinemia is relatively uncommon.

Adolescent↗
PubMed2004

A case of X-linked agammaglobulinemia with progressive encephalitis.

This report describes a case of agammaglobulinemia with progressive encephalitis. The patient was a 6-year-old male who was diagnosed as having Bruton-type agammaglobulinemia at age 6 months. After the diagnosis was made, he received monthly intravenous immunoglobulin replacement with a residual immunoglobulin G level of more than 400 mg/dL. At 5 years of age, he presented with symptoms of mental deterioration and gait disturbance. He had no history of infection of the central nervous system. Brain biopsy revealed CD8-positive T-cell infiltration with cortical damage, but no infectious agents were observed by either immunohistochemistry or virus isolation. Treatment with subcutaneous interferon-alpha and high-dose intravenous immunoglobulin was begun, and clinical symptoms improved within a month. Hence, patients with agammaglobulinemia should be carefully monitored for complications of the central nervous system even if there is no history of infection.

Agammaglobulinaemia Tyrosine Kinase↗
PubMedDate not supplied

[Pediatric mono-arthritis as initial manifestation of X-linked agammaglobulinemia (M. Bruton)].

INTRODUCTION: There are different causes for knee joint effusions in children. Rheumatoid diseases and hematogenous septic arthritis are the most important differential diagnoses. It is less known that immunodeficiency syndromes may cause serous monarthritis. RESULTS: A case of a five years old boy with monarthritis of the knee is presented. Blood assay and specific immunologic analysis revealed a so far unknown X-linked agammaglobulinemia (M. Bruton). CONCLUSIONS: In case of a monarthritis in children the orthopaedic surgeon or the pediatrician is primarily involved. For differential diagnosis X-linked agammaglobulinemia should be considered as reason for monarthritis, especially, if there are other clues to that disease in the medical history. In the case of agammaglobulinemia effusion and swelling will decrease soon after treatment with intravenous gammaglobulin.

Agammaglobulinemia↗
PubMed1983

Campylobacter enteritis associated with recurrent abortions in agammaglobulinemia.

Campylobacter enteritis and habitual abortions occurred in a 28-year-old patient suffering from agammaglobulinemia. Campylobacter jejuni has been recently recognized to be a common treatable cause of diarrhea in man. Since bacterial overgrowth of the small intestine is increased in hypo- or agammaglobulinemia, Campylobacter is expected to be found in those patients. As this patient's abortions might have been due to the same infection, Campylobacter should be considered in the differential diagnosis of habitual abortions, especially if associated with diarrheal disease. This treatable disease must be sought in every case of agammaglobulinemia and gastro-intestinal complaints, before complicated diagnostic procedures are performed or potentially toxic drugs are administered.

Abortion, Habitual↗