Hereditary Alterations in the Immune Response: Coexistence of ‘Agammaglobulinemia', Acquired Hypogammaglobulinemia and Selective Immunoglobulin Deficiency in a Sibship

Buckley, Rebecca H.; Sidbury, James

doi:10.1203/00006450-196803000-00002

Cited by 29 publications

(10 citation statements)

References 43 publications

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“…Although we cannot rule out the possibility that T-cell deficiency is secondary to viral infections, the early onset of extra susceptibility to viral infections may suggest that both B and T-cell deficiency are primary defects. It seems likely, in view of the parental consanguinity, that KK suffers from a familial, congenital abnormality as described in previous reports [1,10,12,16,20,31,34,36], although none of the members of her family have obvious immunodeficiency. This also suggests that KK's selective IgM deficiency is the primary abnormality.…”

Section: Discussionmentioning

confidence: 80%

Selective immunoglobulin M deficiency associated with disseminated molluscum contagiosum

et al. 1986

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A 16-year-old girl with disseminated molluscum contagiosum (MC) was found to have a very low level of serum IgM, elevated levels of IgG and IgA, and a high level of IgE. She had normal numbers of peripheral blood IgM+, IgG+ and IgA+ B-lymphocytes but their terminal differentiation into plasma cells could not be induced by pokeweed mitogen (PWM) in vitro. On the other hand, the patient's T-cells showed normal helper functions in the PWM system and normal interferon (IFN) production in vitro. However, the IgM+ B-cells can be induced to differentiate into IgM secreting cells by Epstein-Barr virus (EBV), suggesting that the genetic mechanism for synthesis of the component immunoglobulin proteins is present. T-cell functions were impaired, as shown by delayed type cutaneous hypersensitivity (DTH) and mitogen response. The data suggest that the selective IgM deficiency of the patient is due mainly to defects in B-cells at the terminal differentiation stage, but immunological abnormalities are present in both B and T-cell systems. Neutrophil functions examined were normal. MC was treated by intravenous injection of IFN without any side effects; however, no clinical improvement was achieved.

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Section: Discussionmentioning

confidence: 80%

Selective immunoglobulin M deficiency associated with disseminated molluscum contagiosum

et al. 1986

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“…The earliest recognized cases were described in children in 1966 [9,19]. More pediatric cases and the first adult cases were described in the late 1960s and were classified as dysgammaglobulinemia V [2,6,12,21]. Over the subsequent 40 years, small series and isolated case reports have appeared.…”

Section: Discussionmentioning

confidence: 99%

“…By comparison, the prevalence in our pediatric symptomatic patients going to an allergy and immunology practice was 0.03%-one-tenth of the adult prevalence. Asymptomatic patients with SIgMID have been reported (up to 19% in some series) [14,21,39], but only 2 cases were observed in children [14,21]. Asymptomatic pediatric patients with SIgMID were …”

Section: Discussionmentioning

confidence: 99%

Pediatric Selective Igm Immunodeficiency

Goldstein

Dunsky

et al. 2008

Chest

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Objective. Limited information exists on features of pediatric Selective IgM immunodeficiency (SIgMID). Previously published pediatric cases and 2 new cases are reviewed. Methods. English literature from PubMed and references from relevant articles were reviewed. Previously reported cases and 2 new cases from an allergy/immunology practice were analyzed. Results. Fortynine reported cases of SIgMID presented with respiratory infections (77.6%), gastrointestinal disease (16.3%), skin disease (12.2%), and meningitis (8.2%). Mean serum IgM level was 16.5 ± 13.8 mg/dL. Two patients were identified with SIgMID among 6300 active pediatric patients (0.03%) presenting with asthma, vasomotor rhinitis, and recurrent respiratory infections. In the 51 cases reported, none developed lymphoproliferative disease nor evolved into panhypogammaglobulinemia; four fatalities were reported. Conclusions. The prevalence of SIgMID in our pediatric population was 0.03%. In general, respiratory infections are the common comorbid conditions. Death and autoimmune disease are uncommon complications of pediatric SIgMID.

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“…For example, the patient originally described by Bruton presented relatively late in life, had tonsillar tissue, and, in fact, underwent tonsillectomy [1,19]. In 1968, Buckley and Sidbury [20] reported a sibship in which two brothers of an XLA patient had only a slowly progressive decline in IgG over a 3-year period and normal IgA levels. One of the two patients had normal tonsils.…”

Section: Clinical Features Of Typical X-linked Agammaglobulinemiamentioning

confidence: 98%

The clinical spectrum of bruton’s agammaglobulinemia

Stewart

Lian

Nelson

2001

Curr Allergy Asthma Rep

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X-linked, or Bruton's, agammaglobulinemia (XLA) was described in 1952 as the congenital inability to form antibodies. Patients were typically infants or young children with recurrent, severe bacterial infections. Other, milder cases of hypogammaglobulinemia were considered "acquired," and often presented later in life. Since the discovery of the defective gene in XLA in 1993, it has been shown that a significant number of male patients with sporadic or acquired hypogammaglobulinemia actually have XLA. We present here a case of atypical XLA and discuss similar cases in the literature. We conclude that any male with hypogammaglobulinemia, regardless of age of presentation, might have XLA. Males with low B-cell numbers are particularly likely to have XLA and should have Bruton's tyrosine kinase levels assessed.

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Hereditary Alterations in the Immune Response: Coexistence of ‘Agammaglobulinemia', Acquired Hypogammaglobulinemia and Selective Immunoglobulin Deficiency in a Sibship

Cited by 29 publications

References 43 publications

Selective immunoglobulin M deficiency associated with disseminated molluscum contagiosum

Selective immunoglobulin M deficiency associated with disseminated molluscum contagiosum

Pediatric Selective Igm Immunodeficiency

The clinical spectrum of bruton’s agammaglobulinemia

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