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Etiologia, patogeneza i historia naturalna idiopatycznej limfocytopenii CD4 +

4 listopada 2026 zaktualizowane przez: National Institute of Allergy and Infectious Diseases (NIAID)

Background:

Idiopathic CD4+ lymphocytopenia (ICL) is a condition in which there is a decreased level of CD4+ lymphocytes (a type of white blood cell), which can lead to opportunistic infections or autoimmune disorders and diseases.

Objectives:

To characterize the natural history with regard to CD4+ T cell count and onset of infection, malignancy, and autoimmunity.
To describe the immunological status of patients affected by ICL while providing the best possible standard therapy to eradicate opportunistic infections.
To establish the timeline of CD4 lymphocytopenia, with particular focus on defining subgroups of patients according to the decline, stabilization, or rise of CD4+ T cell counts over time.
To characterize the opportunistic infections that occur in ICL patients at microbiologic and molecular levels.
To characterize the immunophenotype and possible genetic immunodeficiency causes of ICL.
To determine whether measurable immunologic parameters correlate with the development of opportunistic infections or other comorbidities such as lymphoma in patients with ICL.
To determine whether there is any association between ICL and autoimmunity.
To determine CD4+ T cell turnover, survival, functionality, and cytokine responsiveness in ICL patients.

Eligibility:

Patients 2 years of age and older with an absolute CD4 count less than 300 in children 6 years or older and adults or less than 20% of T cells in children younger than 6 on two occasions at least 6 weeks apart.
Patients with negative results of HIV testing by ELISA, Western Blot, and viral load.
Patients must not have underlying immunodeficiency conditions, be receiving cytotoxic chemotherapy (anti-cancer drugs that kill cells), or have cancer.

Design:

At the initial visit to the National Institutes of Health, the following evaluations will be conducted:
Personal and family medical histories.
Physical examination, including rheumatology evaluation and other consultations as medically indicated (e.g., dermatology, pulmonology, ophthalmology, imaging studies).
Blood samples for analysis of red and white blood cell counts, liver function, immune hormones, and antibody and autoantibody levels, white blood cell growth and function, and DNA.
Urinalysis and urine pregnancy testing for female patients of childbearing age.
Evaluation and treatment of active infections as medically indicated, including biopsies, buccal swabs, pulmonary function tests, and imaging studies.
Follow-up visits will take place approximately every 12 months or more frequently if indicated, and will continue for a minimum of 4 years and a maximum of 10 years.
Evaluations at follow-up will include blood samples (i.e., CBC with differential, biochemical profile, HIV testing, etc.) and urinalysis and rheumatology consults.

Przegląd badań

Status

Rekrutacyjny

Warunki

Szczegółowy opis

Idiopathic CD4+ lymphocytopenia (ICL) is a disorder characterized by decreased numbers of circulating CD4+ T lymphocytes in the absence of known causes of CD4+ lymphocytopenia. ICL is defined as an absolute CD4+ T cell count of less than 300 cells/microL in a patient with no human immunodeficiency virus infection or known immunodeficiency syndrome. The causes and frequency of the disorder remain unknown. The condition is typically diagnosed when patients present with a serious infection. In this natural history protocol, we will evaluate patients with CD4+ T cell counts below 300 cells/microL. We propose to follow 300 ICL patients for a minimum of 4 and maximum of 20 years, with a particular focus on the association between ICL and autoimmune disease. In addition to the ICL patients, we will enroll blood relatives and household contacts to better understand pathogenesis and etiologies of the syndrome. We will collect blood and other tissues for immunologic, rheumatologic, and genetic testing in an effort to identify and understand the underlying defects that cause ICL and follow its course in a cohort of patients who will receive best standard therapy for opportunistic infections.

Typ studiów

Obserwacyjny

Zapisy (Szacowany)

950

Kontakty i lokalizacje

Ta sekcja zawiera dane kontaktowe osób prowadzących badanie oraz informacje o tym, gdzie badanie jest przeprowadzane.

Kontakt w sprawie studiów

Nazwa: Irini Sereti, M.D.
Numer telefonu: (301) 496-5533
E-mail: isereti@niaid.nih.gov

Lokalizacje studiów

Stany Zjednoczone
- Maryland
  - Bethesda, Maryland, Stany Zjednoczone, 20892
    - Rekrutacyjny
    - National Institutes of Health Clinical Center

Kryteria uczestnictwa

Badacze szukają osób, które pasują do określonego opisu, zwanego kryteriami kwalifikacyjnymi. Niektóre przykłady tych kryteriów to ogólny stan zdrowia danej osoby lub wcześniejsze leczenie.

Kryteria kwalifikacji

Wiek uprawniający do nauki

18 lat i starsze (Dorosły, Starszy dorosły)

Akceptuje zdrowych ochotników

Tak

Płeć kwalifikująca się do nauki

Wszystko

Metoda próbkowania

Próbka bez prawdopodobieństwa

Badana populacja

Adults with idiopathic CD4+ lymphocytopenia (ICL) who have CD4 <300/microliters or < 20% of total T cells and their blood relatives and household contacts.

Opis

ICL PARTICPANT INCLUSION CRITERIA:

To be eligible for this study, patients must satisfy all of the following inclusion criteria:

Age greater than or equal to 18 years
Absolute CD4 count < 300 cells/microL or < 20% of total T cells on at least two occasions at least 6 weeks apart
Ongoing care by a referring primary care physician
Willingness to allow storage of blood and tissue samples for future analysis

ICL PARTICPANT EXCLUSION CRITERIA:

Patients will be ineligible for this study if they satisfy any of the following criteria:

Known infection with HIV-1, HIV-2, or human T-cell lymphotropic viruses (HTLV-1 or HTLV-2) as demonstrated by enzyme-linked immunosorbent assay (ELISA) and western blot and/or viral load testing
Known underlying immunodeficiency syndrome other than ICL
Evidence of active malignancy
Receipt of medications, herbal substances, or biologic agents known to diminish the CD4+ count within 30 days of when the CD4+ lymphocytopenia was detected
Any condition that in the judgment of the investigators would place the subject at undue risk or compromise the results of the study.

BLOOD RELATIVE INCLUSION CRITERIA:

To be eligible for study participation as a blood relative, subjects must be greater than or equal to 18 years of age and be a blood relative of an individual who meets or has met the CDC criteria for ICL.

HOUSEHOLD CONTACT INCLUSION CRITERIA:

To be eligible for study participation as a household contact, subjects must be greater than or equal to18 years of age and live within the same household as an ICL subjects participating in this protocol. Blood relatives who are household contacts are eligible to participate.

Plan studiów

Ta sekcja zawiera szczegółowe informacje na temat planu badania, w tym sposób zaprojektowania badania i jego pomiary.

Jak projektuje się badanie?

Szczegóły projektu

Modele obserwacyjne: COHORT
Perspektywy czasowe: PROSPECTIVE

Liczba grup / kohort

Kohorty i interwencje

Grupa / Kohorta
Blood Relatives Blood Relatives of ICL subjects
Household Contacts Household contacts of ICL subjects
ICL Subjects Patients with confirmed idiopathic CD4 lymphocytopenia

Co mierzy badanie?

Podstawowe miary wyniku

Miara wyniku	Opis środka	Ramy czasowe
CD4 <300/microliters or < 20% of total T cells and their blood Ramy czasowe: Baseline and annually	To further characterize the natural history of ICL while also investigating the genetic, environmental, and immunologic features of the condition.	Baseline and annually

Miary wyników drugorzędnych

Miara wyniku	Opis środka	Ramy czasowe
Determine CD4+ T cell turnover, survival, functionality and cytokineresponsiveness in selected ICL patients. Ramy czasowe: Baseline and annually	Collection of research blood (PBL, serum and plasma) for storage	Baseline and annually
Investigate ICL immune cell homeostasis and trafficking by immunologic studies including tissue biopsies and the utilization of ahumanized mouse model. Ramy czasowe: Baseline and annually	Collection of research blood (PBL, serum and plasma) for storage	Baseline and annually
Establish the prognosis of CD4 lymphocytopenia, with particular focus on defining subgroups of patients according to the decline, stabilization, or rise of CD4+T cell counts over time. Ramy czasowe: Baseline and annually	Collection of research blood (PBL, serum and plasma) for storage	Baseline and annually
Determine whether measurable immunologic parameters correlate with the development of opportunistic infections or other co-morbidities Ramy czasowe: Baseline and annually	Determine whether measurable immunologic parameters correlate with the development of opportunistic infections or other co-morbidities such as lymphoma in patients with ICL. Investigate the associations between idiopathic CD4+ lymphocytopenia and autoimmunity.Collection of research blood (PBL, serum and plasma) for storage	Baseline and annually
Determine the relationship between ICL and the microbiome. Ramy czasowe: Baseline and annually	Collection of rectal swab and dietary questionnaire	Baseline and annually

Współpracownicy i badacze

Tutaj znajdziesz osoby i organizacje zaangażowane w to badanie.

Sponsor

National Institute of Allergy and Infectious Diseases (NIAID)

Śledczy

Główny śledczy: Irini Sereti, M.D., National Institute of Allergy and Infectious Diseases (NIAID)

Publikacje i pomocne linki

Osoba odpowiedzialna za wprowadzenie informacji o badaniu dobrowolnie udostępnia te publikacje. Mogą one dotyczyć wszystkiego, co jest związane z badaniem.

Publikacje ogólne

Przydatne linki

<p>NIH Clinical Center Detailed Web Page</p>

Daty zapisu na studia

Daty te śledzą postęp w przesyłaniu rekordów badań i podsumowań wyników do ClinicalTrials.gov. Zapisy badań i zgłoszone wyniki są przeglądane przez National Library of Medicine (NLM), aby upewnić się, że spełniają określone standardy kontroli jakości, zanim zostaną opublikowane na publicznej stronie internetowej.

Główne daty studiów

Rozpoczęcie studiów (Rzeczywisty)

13 lipca 2009

Daty rejestracji na studia

Pierwszy przesłany

20 marca 2009

Pierwszy przesłany, który spełnia kryteria kontroli jakości