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A New EP300 ‐Related Syndrome With Prominent Developmental and Immune Phenotypes

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 8, August 2025.
ABSTRACT Rubinstein Taybi syndrome (RTS) is a disorder of chromatin remodeling and transcriptional regulation caused by heterozygous pathogenic variants in CREBBP and EP300. RTS is characterized by a distinct facial gestalt, intellectual disability, structural kidney and heart differences, feeding difficulties, and broad thumbs and great toes ...
Devi Priyanka Maripuri   +3 more
wiley   +1 more source
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Cryptococcosis in the acquired immunodeficiency syndrome.

Annals of Internal Medicine, 1985
The clinical course and response to therapy of 27 patients with cryptococcosis and the acquired immunodeficiency syndrome were reviewed. Cryptococcosis was the initial manifestation of the syndrome in 7 patients, and the initial opportunistic infection ...
J. Kovacs   +14 more
semanticscholar   +3 more sources

Acquired Immunodeficiency Syndrome

Journal of Urology, 1986
AbstractThe acquired immunodeficiency syndrome (AIDS) was recognized as a distinct clinical entity in 1981 and was characterized by unexplained opportunistic infections and an aggressive form of Kaposi's sarcoma. High risk groups for contracting AIDS include homosexual men, parenteral drug users, hemophiliacs, recipients of blood and blood products ...
Gerald P. Bodey, Kenneth V.I. Rolston
  +13 more sources

Acquired Immunodeficiency Syndrome

Dermatologic Clinics, 1990
The occurrence of unusual infections, in particular Pneumocystis carinii pneumonia and the rare neoplasm Kaposi's sarcoma, in previously healthy homosexual men in the late 1970s heralded the epidemic of human immunodeficiency virus infection, the most severe form of which is the acquired immunodeficiency syndrome.
C. Kurstak   +3 more
  +9 more sources

The acquired immunodeficiency syndrome

Disease-a-Month, 1983
Recently, a new epidemic illness, the acquired immunodeficiency syndrome, has dramatically emerged in the United States, Europe, and Haiti. The syndrome represents an unprecedented epidemic form of immunodeficiency involving prominent defects of the T-lymphocyte arm of the immune system.
Michael S. Gottlieb   +4 more
  +9 more sources

The Acquired Immunodeficiency Syndrome

Emergency Medicine Clinics of North America, 1985
AIDS is an apparently new condition that first occurred in about 1979 and is manifested primarily by profound disturbances of T-cell immunity and unusual susceptibility to either opportunistic infections (mycobacterial, fungal, parasitic, or viral) or tumors such as Kaposi's sarcoma and lymphoma.
Ronald D. AhLoy   +2 more
openaire   +6 more sources

The usefulness of induced sputum in the diagnosis of Pneumocystis carinii pneumonia in patients with the acquired immunodeficiency syndrome.

American Review of Respiratory Disease, 2015
Thirty-two patients with or suspected of having the acquired immunodeficiency syndrome were evaluated for opportunistic lung infection using examination of sputum induced by inhalation of 3% saline.
Bigby Td   +6 more
semanticscholar   +1 more source

Acquired Immunodeficiency Syndrome

Clinical Immunology Newsletter, 1988
Acquired immunodeficiency syndrome (AIDS) is a clearly characterized clinical syndrome secondary to impaired function of T lymphocytes that increases susceptibility to opportunistic infections.1–6 Compelling evidence implicates recently described human T-lymphotropic retroviruses in the etiology and pathogenesis of AIDS.7,8 Human T-lymphotropic virus ...
Steven Specter, Stephen Kramer
openaire   +4 more sources

Abnormalities of B-cell activation and immunoregulation in patients with the acquired immunodeficiency syndrome.

New England Journal of Medicine, 1983
We studied B-lymphocyte function in 12 homosexual male patients with the acquired immunodeficiency syndrome, 5 healthy homosexual men, and 12 heterosexual controls.
H. Lane   +5 more
semanticscholar   +1 more source

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