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

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

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