Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

First report of clinical, functional, and molecular investigation of chronic granulomatous disease in nine Jordanian families.

Journal of clinical immunology - 1 Mar 2009

Bakri Faris G, Martel Cécile, Khuri-Bulos Najwa, Mahafzah Azmi, El-Khateeb Mohammad S, Al-Wahadneh Adel M, Hayajneh Wail A, Hamamy Hanan A, Maquet Elisabeth, Molin Michelle, Stasia Marie José

Abstract excerpt

INTRODUCTION: Chronic granulomatous disease is a rare inherited immunodeficiency syndrome caused by mutations in four genes encoding essential nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex components. MATERIAL AND METHODS: Clinical, functional, and molecular investigations w...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child, Preschool
Share to Granulomatous Disease, Chronic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Jordan

Share to Leukocytes, Mononuclear

Share to Membrane Glycoproteins

Share to NADPH Oxidase 2

Share to NADPH Oxidases

Share to Neutrophils

Source

Identifiers

PMID: 18773283
DOI: 10.1007/s10875-008-9243-y

Genes

CYBA
CYBB
NCF1
NCF2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-18773283-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

First report of clinical, functional, and molecular investigation of chronic granulomatous disease in nine Jordanian families.PMID 18773283Read ↗

Second Report of Chronic Granulomatous Disease in Jordan: Clinical and Genetic Description of 31 Patients From 21 Different Families, Including Families From Lybia and Iraq.Semantic proximity Read ↗

Clinical and molecular findings of chronic granulomatous disease in Oman: family studies.Semantic proximity Read ↗

Chronic granulomatous disease: a 25-year patient registry based on a multistep diagnostic procedure, from the referral center for primary immunodeficiencies in Greece.Semantic proximity Read ↗

Molecular basis of autosomal recessive chronic granulomatous disease in iran.Semantic proximity Read ↗

Chronic granulomatous disease in Israel: clinical, functional and molecular studies of 38 patients.Semantic proximity Read ↗

Three novel mutations in CYBA among 22 Iranians with Chronic granulomatous disease.Semantic proximity Read ↗

Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update).Semantic proximity Read ↗

First review of chronic granulomatous disease in Palestine: clinical and genetic characteristics.Semantic proximity Read ↗

Molecular diagnosis of X-linked chronic granulomatous disease in Iran.Semantic proximity Read ↗

Hematologically important mutations: The autosomal forms of chronic granulomatous disease (third update).Semantic proximity Read ↗

Characterization of 4 New Mutations in the CYBB Gene in 10 Iranian Families With X-linked Chronic Granulomatous Disease.Semantic proximity Read ↗

Mutations of chronic granulomatous disease in Turkish families.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.