Pancreatic Insufficiency and Neutropenia With Associated Immunoglobulin Deficit

Hudson, Edsel

doi:10.1001/archinte.1970.00310020120017

Cited by 27 publications

(8 citation statements)

References 10 publications

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“…Overwhelming sepsis is a well‐recognized fatal complication of this disorder, particularly early in life. The susceptibility to infection is mostly due to neutropenia, however, multiple B and T‐cell defects have been reported and might be contributory 63–67. In our series of 14 patients we identified seven with B cell defects comprising one or more of the following abnormalities: low IgG or IgG subclasses, low percentage of circulating B lymphocytes, decreased in vitro proliferation and a lack of specific antibody or isohemaglutinin production.…”

Section: Clinical Featuresmentioning

confidence: 86%

Shwachman‐Diamond syndrome

Dror

2005

Pediatric Blood & Cancer

126

158

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Shwachman-Diamond syndrome (SDS) is an inherited marrow failure disorder with varying cytopenia, pancreatic dysfunction, and metaphyseal dysostosis. SDS is also characterized by a risk of myelodysplasia and leukemia in up to one third of the patients. Over the last 5 years, major advances have been made in understanding the bone marrow phenotype. The gene associated with the disease, SBDS, has recently been identified. Herein we provide an update on the clinical features, the hematopoietic defects, and the genetics of the disease as they are currently understood. We also review the diagnostic and therapeutic approaches to the hematological complications in the syndrome.

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Section: Clinical Featuresmentioning

confidence: 86%

Shwachman‐Diamond syndrome

Dror

2005

Pediatric Blood & Cancer

126

158

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“…Morbidity and mortality related to infection in SDS patients have usually been attributed to neutropenia. However, concerns about immunological function were raised in several case studies (Hudson & Aldor, 1970; Aggett et al , 1979; Sacchi et al , 1982; Repo et al , 1987; Kornfeld et al , 1995; Maki et al , 1978).…”

Section: Discussionmentioning

confidence: 99%

“…Although immunological abnormalities are not traditionally perceived as part of the disease complex, patients with SDS are prone to recurrent infections even in the face of protective neutrophil counts, according to case reports describing immunological defects in patients with the syndrome (Hudson & Aldor, 1970; Aggett et al , 1979; Sacchi et al , 1982; Kornfeld et al , 1995; Maki et al , 1978). Neutrophil and monocyte chemotaxis was studied using old methods and usually found to be abnormally depressed (Hudson & Aldor, 1970; Aggett et al , 1979; Sacchi et al , 1982; Repo et al , 1987).…”

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confidence: 99%

Immune function in patients with Shwachman–Diamond syndrome

et al. 2001

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Shwachman–Diamond syndrome (SDS) is an inherited multisystem disorder characterized by exocrine pancreatic dysfunction and varying degrees of cytopenia. In addition, various immunological abnormalities have been noted. To clarify the issue of immunological competence or incompetence in SDS, we prospectively studied immune function in 11 patients with SDS. Seven suffered from recurrent bacterial infections and six from recurrent viral infections. Varying degrees of impairment were readily identified. All patients had neutropenia; total lymphocyte counts, however, were normal in all except one patient. Nine patients had B‐cell defects comprising one or more of the following abnormalities: low IgG or IgG subclasses, low percentage of circulating B lymphocytes, decreased in vitro B‐lymphocyte proliferation and a lack of specific antibody production. Seven out of nine patients studied had at least one T‐cell abnormality comprising a low percentage of total circulating T lymphocytes or CD3+/CD4+ cell subpopulations or decreased in vitro T‐lymphocyte proliferation. Five out of six patients studied had decreased percentages of circulating natural killer cells. Moreover, neutrophil chemotaxis was significantly low in all the patients studied. These data point to a major immunodeficiency component in SDS that places patients at heightened risk of infections, even if neutrophil numbers are protective. This finding broadens the definition of the syndrome substantially: it suggests that the SDS marrow defect occurs at the level of an early haematological–lymphocytic stem cell or that a combined marrow and thymic stromal defect accounts for the aberrant function of haematopoietic and lymphopoietic lineages.

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“…The quantitative and qualitative defects in SDS neutrophils contribute to these infections. Numerous case reports describing B‐ and T‐cell defects in patients with the syndrome have been published (Hudson & Aldor, 1970; Mäki et al , 1978; Aggett et al , 1979; Sacchi et al , 1982; Kornfeld et al , 1995). In a recent prospective study of immune function in 11 patients with SDS (Dror et al , 2001), we identified varying degrees of impairment.…”

Section: Immune Dysfunctionmentioning

confidence: 99%