Clinical and demographic pattern of chronic granulomatous disease (CGD) from a multicenter perspective: Malaysia’s experience over 26 years

Noh, Lokman Mohd; Latiff, Amir Hamzah Abdul; Ismail, Intan Hakimah; Noah, Rahim Md; Wahab, Asrul Abdul; Hamid, Intan Juliana Abd; Ripen, Adiratna Mat; Abdullah, Nasuruddin; Razali, Kamarul Azhar Mohd; Zainudin, Norzila Mohamed; Bakon, Florence; Kok, Long Juan; Ali, Adli; Aziz, Bilkis Banu SAbd; Latif, Hasniah Abdul; Mohamad, Suriani; Zainudeen, Zarina Thasneem; Hashim, Ilie Fadzilah; Sendut, Iean Hamzah; Nadarajaw, Thiyagar; Jamil, Faizah Mohamed; Ng, David Chun Ern; Abidin, Mohd Azri Zainal

doi:10.1186/s13223-021-00551-4

Cited by 4 publications

(4 citation statements)

References 29 publications

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“…Comparable with other studies, Aspergillus species was the prevalent fungal microorganism detected in our cohort (16,18,20,21).…”

Section: Discussionsupporting

confidence: 81%

“…This is explained by the high level of consanguinity in UAE like other countries within the MENA region, such as Oman (5), Saudi Arabia (6), Turkey (12), Iran (13) and Egypt (15). Although X-linked CGD is the most common form of the disease in the United kingdom, Latin America, Mexico, and USA (2,10,11,16), it was only observed in one patient in our cohort.…”

Section: Discussionmentioning

confidence: 64%

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Chronic granulomatous disease in the United Arab Emirates: clinical and molecular characteristics in a single center

Al Kuwaiti,

Al Dhaheri,

Al Hassani

et al. 2023

Front. Immunol.

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BackgroundChronic granulomatous disease (CGD) is a genetic disorder caused by defective oxidative burst within phagocytes, manifesting as recurrent, severe infections as well as hyperinflammation.ObjectiveThis is the first report from the United Arab Emirates (UAE) to describe the demographic, clinical, laboratory, radiological, and genetic characteristics of patients with CGD.MethodsThis is a retrospective study that was conducted at Tawam Hospital in the UAE on patients with confirmed CGD between 2017 and 2022.ResultsA total of 14 patients were diagnosed with CGD, of whom 13 patients had autosomal recessive (AR) CGD due to NCF1 deficiency. Consanguinity was noted in all patients with AR CGD, whereas positive family history was identified in 50% of cases. The median age of onset of symptoms was 24 months, while the median age at diagnosis was 72 months. Lymphadenitis was the most common clinical feature identified in 71% of patients. Other common infectious manifestations included abscess formation (57%), pneumonia (50%), invasive aspergillosis (21%), oral thrush (14%), and sepsis (14%). Disseminated trichosporonosis was reported in one patient. Autoimmune and inflammatory manifestations included celiac disease in two patients, diabetes mellitus and asymptomatic colitis in one patient each. Genetic analysis was performed in all patients; NCF1 deficiency was diagnosed in 13 (93%) patients, with c.579G>A being the most prevalent pathogenic variant identified. The treatment modalities, as well as treatment of acute infections, treatment modalities included antimicrobial prophylaxis in 12 (86%) patients and hematopoietic stem cell transplant in six patients (42%).ConclusionThis is the first report from the UAE describing the clinical and molecular characteristics of patients with CGD. The homozygous variant c.579G>A causing NCF1 deficiency can be considered as a founder mutation for AR CGD in the UAE.

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“…Comparable with other studies, Aspergillus species was the prevalent fungal microorganism detected in our cohort (16,18,20,21).…”

Section: Discussionsupporting

confidence: 81%

Section: Discussionmentioning

confidence: 64%

Chronic granulomatous disease in the United Arab Emirates: clinical and molecular characteristics in a single center

Al Kuwaiti,

Al Dhaheri,

Al Hassani

et al. 2023

Front. Immunol.

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“…Uniquely in SEA countries, the disease phenotype of PID is rather unusual as its initial presentations are not commonly described in classical literature ( 10 ). Studies have reported higher incidence of Mycobacterium tuberculosis , Mycobacterium bovis , Chromobacteriumviolaceum, Burkholderiapseudomallei and Penicillium marneffei , which are endemic in SEA countries ( 10 , 11 ). Therefore, in cases where live vaccines such as Bacillus Calmette-Guerin (BCG) are administered to severely immunodeficient infants in SEA countries, they may experience complications, often leading to death with a high mortality rate of 43.5% ( 10 , 12 ).…”

Section: Introductionmentioning

confidence: 99%

Primary immunodeficiencies (PID) Life Index in Southeast Asia: A comparative analysis of PID Principles of Care (PoC)

et al. 2023

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ObjectiveTo analyze the implementation of the Principles of Care (PoC) in primary immunodeficiencies (PID) in Southeast Asia (SEA) countries - six years after its call of action.MethodologyUsing the newly developed PID Life Index software, the index of implementation of principles of care in the management of PIDs patients involving the six participating SEA countries (Cambodia, Indonesia, Malaysia, Vietnam, Thailand, and Philippines) were extracted. For each of the six separate principles, the index from the six countries will be compared and presented based on the calculated index.ResultsComparative analysis of the six principles of care of PID in the SEA countries showed low diagnostic rate with minimal availability of diagnostic tests options. Generally, almost all SEA countries provide curative treatments, vaccines, and anti-infectious therapies although the reimbursement scheme varied in relieving patients’ financial burden. We also highlighted the active involvement of patient organizations in SEA, with main areas of work focused on advocacy and increasing awareness among public and healthcare professionals.Discussion and conclusionIt is applaudable that the SEA continent is gradually strengthening its work in management of PID, especially in Thailand and Vietnam. However, more emphasis must be placed among stakeholders in SEA countries towards successful implementation of the PoC for a holistic management of PID patients.

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“…Some countries are equipped with up-to-date national registries (14 countries), while many lack registries altogether (38 countries). Some countries such as Malaysia ( 36 ), Vietnam and Algeria have registries based on data from a few medical centres, while others, such as South Korea, have a PID registry connected to only one medical centre. In contrast, in large countries with many medical centres treating PID patients such as Canada and the United States of America, finding ways to centralise the registries is a huge challenge that, if solved, could greatly benefit the PID community.…”

Section: Resultsmentioning

confidence: 99%

The PID Principles of Care: Where Are We Now? A Global Status Report Based on the PID Life Index

Nordin¹,

Solís²,

Prévot³

et al. 2021

Front. Immunol.

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A global gold standard framework for primary immunodeficiency (PID) care, structured around six principles, was published in 2014. To measure the implementation status of these principles IPOPI developed the PID Life Index in 2020, an interactive tool aggregating national PID data. This development was combined with a revision of the principles to consider advances in the field of health and science as well as political developments since 2014. The revision resulted in the following six principles: PID diagnosis, treatments, universal health coverage, specialised centres, national patient organisations and registries for PIDs. A questionnaire corresponding to these principles was sent out to IPOPI’s national member organisations and to countries in which IPOPI had medical contacts, and data was gathered from 60 countries. The data demonstrates that, regardless of global scientific progress on PIDs with a growing number of diagnostic tools and better treatment options becoming available, the accessibility and affordability of these remains uneven throughout the world. It is not only visible between regions, but also between countries within the same region. One of the most urgent needs is medical education. In countries without immunologists, patients with PID suffer the risk of remaining undiagnosed or misdiagnosed, resulting in health implications or even death. Many countries also lack the infrastructure needed to carry out more advanced diagnostic tests and perform treatments such as hematopoietic stem cell transplantation or gene therapy. The incapacity to secure appropriate diagnosis and treatments affects the PID environment negatively in these countries. Availability and affordability also remain key issues, as diagnosis and treatments require coverage/reimbursement to ensure that patients with PID can access them in practice, not only in theory. This is still not the case in many countries of the world according to the PID Life Index. Although some countries do perform better than others, to date no country has fully implemented the PID principles of care, confirming the long way ahead to ensure an optimal environment for patients with PID in every country.

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Clinical and demographic pattern of chronic granulomatous disease (CGD) from a multicenter perspective: Malaysia’s experience over 26 years

Cited by 4 publications

References 29 publications

Chronic granulomatous disease in the United Arab Emirates: clinical and molecular characteristics in a single center

Chronic granulomatous disease in the United Arab Emirates: clinical and molecular characteristics in a single center

Primary immunodeficiencies (PID) Life Index in Southeast Asia: A comparative analysis of PID Principles of Care (PoC)

The PID Principles of Care: Where Are We Now? A Global Status Report Based on the PID Life Index

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