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

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

OBJECTIVETo investigate clinical features of X-linked agammaglobulinemia (XLA) in children.

METHODSThe medical records of 17 children with XLA between January 2001 and April 2007 were reviewed.

RESULTSThe age at first diagnosis in 88.2% of patients was more than 6 years, with a mean of 7.7 years. Twelve patients (70.6%) presented first symptoms over 2 years old, with a mean of 4.2 years. Respiratory infections as first symptoms and complaints occurred in 64.7% of the patients and 35.3% of the patients presented with polyarthritis. Skin and soft tissue infections were rarely seen in less than 1 year old group children. Abrupt sepsis and abscess in deep tissues were seen in the older children. CD4+ T cells decreased and CD8+ T cells increased in 9 patients and an inversed ratio of CD4+/ CD8+ was observed in 11 patients.

CONCLUSIONSBoth the age presenting first symptoms and the age at first diagnosis in children with XLA in this study were later than the reported data. Respiratory infection was the most common manifestation. High prevalence of polyarthritis was observed. Abnormal T cell phenotypes occurred in more than one half of patients.

Agammaglobulinemia ; complications ; diagnosis ; immunology ; Child ; Child, Preschool ; Genetic Diseases, X-Linked ; complications ; diagnosis ; immunology ; Humans ; Male

BACKGROUNDHypogammaglobulinemia is common in infant humoral immunodeficiencies and has complicated causes and outcomes. We aimed to determine the clinical manifestations, immunological changes and outcomes of Shanghai infants with hypogammaglobulinemia.

METHODSPatients under 2 years old, having one or more warning signs of primary immunodeficiency disorders, serum immunoglobulin levels below the lower limit of reference range per age, and with normal numbers for lymphocyte subsets, were analyzed and followed up for 2 to 3 years.

RESULTSA total of 91 children (male-to-female ratio: 2.25: 1) participated in the study. Initial clinical presentation was recurrent upper respiratory tract infection (46%), invasive infection (3%), atopic disease (32%). IgA reduction (77%) was prevalent; 34% patients had more than one isotype reduced. During follow-up, 51 of 62 patients (82.25%) had immunoglobulins normalized at the age between 12 - 48 months; these were diagnosed as transient hypogammaglobulinemia of infancy (THI). Long-term follow-up may reveal a diagnosis for the remaining 11 infants with persistent lower immunoglobulin levels, who did not have antibody titers measured. Earlier onset was correlated with higher rates of normalization. More patients were diagnosed with isolated hypogammaglobulinemia in 2006 compared with the previous 4 years (2002 - 2005).

CONCLUSIONSThe awareness of immunodeficiency among pediatricians has been greatly improved. Recurrent otitis media was not a major infection in our patients. THI is a relatively common condition associated with infant hypogammaglobulinemia. In the absence of specific antibody titers, the diagnosis of THI can be confirmed retrospectively with Ig levels normalized in follow-up visits. Therefore, long-term follow-up and frequent re-evaluation of these patients are necessary to distinguish them from true primary immunodeficiency.

Agammaglobulinemia ; epidemiology ; metabolism ; pathology ; Child ; Child, Preschool ; China ; epidemiology ; Female ; Follow-Up Studies ; Humans ; Infant ; Male

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*