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Clinical and Immunological Characteristics of 63 Patients with Chronic Granulomatous Disease: Hacettepe Experience

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Abstract

Background

Chronic granulomatous disease (CGD), one of the phagocytic system defects, is the primary immunodeficiency caused by dysfunction of the NADPH oxidase complex which generates reactive oxygen species (ROS), which are essential for killing pathogenic microorganisms, especially catalase-positive bacteria and fungi.

Objective

The objective of our study was to assess the clinical and laboratory characteristics, treatment modalities, and prognosis of patients with CGD.

Methods

We retrospectively reviewed 63 patients with CGD who have been diagnosed, treated, and/or followed-up between 1984 and 2018 in Hacettepe University, Ankara, in Turkey, as a developing country.

Results

The number of female and male patients was 26/37. The median age at diagnosis was 3.8 (IQR: 1.0–9.6) years. The rate of consanguinity was 63.5%. The most common physical examination finding was lymphadenopathy (44/63), growth retardation (33/63), and hepatomegaly (27/63). One adult patient had squamous cell carcinoma of the lung. The most common infections were lung infection (53/63), skin abscess (43/63), and lymphadenitis (19/63). Of the 63 patients with CGD, 6 patients had inflammatory bowel disease (IBD). Twelve of the 63 patients died during follow-up. CYBA, NCF1, CYBB, and NCF2 mutations were detected in 35%, 27.5%, 25%, and 12.5% of the patients, respectively.

Conclusion

We identified 63 patients with CGD from a single center in Turkey. Unlike other cohort studies in Turkey, due to the high consanguineous marriage rate in our study group, AR form of CGD was more frequent, and gastrointestinal involvement were found at relatively lower rates. The rate of patients who treated with HSCT was lower in our research than in the literature. A majority of the patients in this study received conventional prophylactic therapies, which highlight on the outcome of individuals who have not undergone HSCT.

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Abbreviations

AR-CGD:

Autosomal recessive chronic granulomatous disease

CGD:

Chronic granulomatous disease

CT:

Computed tomography

DHR:

Dihydrorhodamine

DIC:

Diffuse intravascular coagulation

ESID:

European Society of Immunodeficiencies

GIS:

Gastrointestinal system

HSCT:

Hematopoietic stem cell transplantation

IBD:

Inflammatory bowel disease

IFNγ:

Interferon-gamma

NBT:

Nitroblue tetrazolium

NIH:

National Institutes of Health

ROS:

Reactive oxygen species

SIFT:

Sorting intolerant from tolerant

TMP-SMX:

Trimethoprim-sulfamethoxazole

TNGS:

Targeted next-generation sequencing

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Authors and Affiliations

  1. Faculty of Medicine, Department of Pediatrics, Hacettepe University, 06100, Ankara, Turkey

    Halil Tuna Akar

  2. Faculty of Medicine, Department of Pediatrics, Division of Immunology, Hacettepe University, 06100, Ankara, Turkey

    Saliha Esenboga, Deniz Cagdas & Ilhan Tezcan

  3. Institute of Children’s Health Basic Sciences of Pediatrics Division of Pediatric Immunology, Hacettepe University, 06100, Sihhiye/Ankara, Turkey

    Sevil Oskay Halacli, Begum Ozbek & Cagman Sun Tan

  4. Sanquin Research and Landsteiner Laboratory Amsterdam University Medical Center, University of Amsterdam, Amsterdam, the Netherlands

    Karin van Leeuwen, Martin de Boer & Dirk Roos

  5. Faculty of Medicine, Department of Immunology, Erciyes University, Kayseri, Turkey

    Yavuz Köker

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  1. Halil Tuna Akar
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Contributions

HTA, SE, DC, and IT compiled and reviewed the clinical findings of the patients. SOH and BO reviewed the genetic and laboratory findings of the patients. KvL, MdB, CST, YK, and DR made genetic analysis of the patients.

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Correspondence to Halil Tuna Akar.

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Akar, H.T., Esenboga, S., Cagdas, D. et al. Clinical and Immunological Characteristics of 63 Patients with Chronic Granulomatous Disease: Hacettepe Experience. J Clin Immunol 41, 992–1003 (2021). https://doi.org/10.1007/s10875-021-01002-w

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  • DOI: https://doi.org/10.1007/s10875-021-01002-w

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