Hermansky-Pudlak syndrome: an immunologic assessment of 15 cases

Shanahan, Fergus; Randolph, Linda M.; King, Richard A.; Oseas, Ronald S.; Brogan, Michael; Witkop, Carl J.; Rotter, Jerome I.; Targan, Stephan

doi:10.1016/s0002-9343(88)80028-7

Cited by 37 publications

(15 citation statements)

References 7 publications

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“…Previous studies of NK-cell activities in patients affected by HPS2 have shown conflicting results; while systematic assessment of immunologic functions in large cohorts of HPS patients failed to reveal abnormal leukocyte counts or NK cytolytic activity, 38 a patient with recurrent infections and impairment of NK functions has also been reported. 39 Because the cohort studies were performed evaluating genetically uncharacterized patients showing oculocutaneous albinism and bleeding disorders, lacking symptoms of immunodeficiency, this suggests that many of them were suffering from other forms of HPS2.…”

Section: Discussionmentioning

confidence: 97%

Innate immunity defects in Hermansky-Pudlak type 2 syndrome

Fontana

Parolini

Vermi

et al. 2006

Blood

134

128

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Section: Discussionmentioning

confidence: 97%

Innate immunity defects in Hermansky-Pudlak type 2 syndrome

Fontana

Parolini

Vermi

et al. 2006

Blood

134

128

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“…'9 Although neutrophil function is normal in the latter syndrome, the intestinal lesions may be secondary to a defect in macrophage function due to a toxic accumulation of a ceroid-like pigment. 20 It is intriguing that diverse abnormalities of leucocyte function may present with the same Crohn disease-like enterocolitic picture.16 It is generally held that the bacterial flora plays a part in the pathogenesis of Crohn's disease.2'…”

Section: Discussionmentioning

confidence: 99%

Leucocyte adhesion deficiency presenting as a chronic ileocolitis.

D’Agata

Paradis

Chad

et al. 1996

Gut

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CD11/CD18 leucocyte glycoprotein deficiency is a rare, congenital adhesion molecule disorder which, in its severe form, is usually fatal. Leucocytes in affected subjects have abnormal migration and adherence, rendering patients susceptible to life threatening infections. The CD11/ CD18 integrins, and other adehsion molecules, are considered essential to the normal inflammatory response. It has been postulated that adhesion molecules may be responsible for mediating in part, the inflammatory changes observed in inflammatory bowel diseases and related disorders. This report describes the first case of CD11/CD18 deficiency characterised by a chronic ileocolitis. Bone marrow transplantation completely resolved the gastrointestinal symptoms, supporting a role for neutrophil dysfunction in the pathogenesis of the gut lesions. This case suggests that specific blockade of CD11/ CD18 integrins alone may not halt the chronic inflammatory response observed in immune mediated bowel disorders, and that abnormalities of leucocyte function must be included in the differential diagnosis of paediatric Crohn's disease.

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“…Albinism is a well known disease with seven distinct clinical and genetic variants, either inherited as autosomal recessive or as rare‐type autosomal dominant disorder 5–8 . Hermansky‐Pudlak syndrome 9–11 and Chediak‐Higashi syndrome 12 are sometimes regarded as two further autosomal recessive variants of albinism (Table 2).…”

Section: Albinismmentioning

confidence: 99%

“…This is a rare autosomal recessive syndrome which incorporates a variable degree of oculocutaneous albinism along with other extra pigmentary abnormalities. Because of the presence of the hair‐bulb tyrosinase, some pigment may eventually develop although sun‐tanning is difficult 9–11,30–32 . Epistaxis, gingival bleeding, genital and gastrointestinal bleeding and peticheal purpura may be observed.…”

Section: Hermansky‐pudlak Syndromementioning

confidence: 99%