Inheritance Pattern and Clinical Aspects of 93 Iranian Patients with Chronic Granulomatous Disease

Fattahi, Fatemeh; Badalzadeh, Mohsen; Sedighipour, Leyla; Movahedi, Masoud; Fazlollahi, Mohammad Reza; Mansouri, Davood; Khotaei, Ghamar Taj; Bemanian, Mohammad Hassan; Behmanesh, Fatemeh; Hamidieh, Amir Ali; Bazargan, Nasrin; Mamishi, Setareh; Zandieh, Fariborz; Chavoshzadeh, Zahra; Mohammadzadeh, Iraj; Mahdaviani, Seyed Alireza; Tabatabaei, Seyed Ahmad; Kalantari, Najmeddin; Tajik, Shaghayegh; Maddah, Marzieh; Pourpak, Zahra; Moin, Mostafa

doi:10.1007/s10875-011-9567-x

Cited by 98 publications

(113 citation statements)

References 35 publications

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“…SCID is similar to another common PID in Iran, namely, chronic granulomatosis disease, which is more frequently autosomal recessive than X-linked [11]. The dominant phenotype of SCID varies according to the country.…”

Section: Discussionmentioning

confidence: 99%

Clinical, Laboratory, and Molecular Findings for 63 Patients With Severe Combined Immunodeficiency: A Decade's Experience

Fazlollahi¹,

Pourpak²,

Hamidieh³

et al. 2017

J Investig Allergol Clin Immunol

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Section: Discussionmentioning

confidence: 99%

Clinical, Laboratory, and Molecular Findings for 63 Patients With Severe Combined Immunodeficiency: A Decade's Experience

Fazlollahi¹,

Pourpak²,

Hamidieh³

et al. 2017

J Investig Allergol Clin Immunol

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“…Teimourian et al [24] evaluated mutations in 43 patients with AR-CGD and reported that 32 (74%) had a p47 phox deficiency (A47 CGD), 9 (20%) a p22 phox deficiency (A22 CGD), and 2 (5%) a deficiency in p67 phox (A67 CGD). Moreover, Fattahi et al [11] evaluated 93 CGD patients with (81 AR CGD) and reported 67% with A47 CGD, 25% with A22 CGD, and 7% with A67 CGD. Although the NCF2 mutation is less common, Badalzadeh et al [25] detected 2 different homozygous mutations in NCF2 in 4 Iranian A67 CGD patients.…”

Section: Pathogenesis Of Cgdmentioning

confidence: 99%

“…The most common clinical feature in XL-CGD patients is lymphadenopathy (66%) followed by pulmonary (57%) and skin involvement [14, 15, 33]. Fattahi et al [11] showed that XL-CGD patients have more severe infectious manifestations than A47-CGD patients and that AR-CGD is more prevalent in females (57%) than males (43%). The severity of the disease was greater in patients with A22 CGD, compared to other forms of AR-CGD, whilst the age of diagnosis was earlier.…”

Section: Clinical Evidencementioning

confidence: 99%

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Common Infections and Target Organs Associated with Chronic Granulomatous Disease in Iran

Mortaz

Azempour

Mansouri

et al. 2019

Int Arch Allergy Immunol

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Recurrent severe bacterial and fungal infections are characteristic features of the rare genetic immunodeficiency disorder chronic granulomatous disease (CGD). The disease usually manifests within the first years of life with an incidence of 1 in approximately 200,000 live births. The incidence is higher in Iran and Morocco where it reaches 1.5 per 100,000 live births. Mutations have been described in the 5 subunits of NADPH oxidase, mostly in gp91^phox and p47^phox, with fewer mutations reported in p67^phox, p22^phox, and p40^phox. These mutations cause loss of superoxide production in phagocytic cells. CYBB, the gene encoding the large gp91^phox subunit of the transmembrane component cytochrome b₅₅₈ of the NADPH oxidase complex, is localized on the X-chromosome. Genetic defects in CYBB are responsible for the disease in the majority of male CGD patients. CGD is associated with the development of granulomatous reactions in the skin, lungs, bones, and lymph nodes, and chronic infections may be seen in the liver, gastrointestinal tract, brain, and eyes. There is usually a history of repeated infections, including inflammation of the lymph glands, skin infections, and pneumonia. There may also be a persistent runny nose, inflammation of the skin, and inflammation of the mucous membranes of the mouth. Gastrointestinal problems can also occur, including diarrhea, abdominal pain, and perianal abscesses. Infection of the bones, brain abscesses, obstruction of the genitourinary tract and/or gastrointestinal tract due to the formation of granulomatous tissue, and delayed growth are also symptomatic of CGD. The prevention of infectious complications in patients with CGD involves targeted prophylaxis against opportunistic microorganisms such as Staphylococcus aureus, Klebsiella spp., Salmonella spp. and Aspergillus spp. In this review, we provide an update on organ involvement and the association with specific isolated microorganisms in CGD patients.

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“…Other gene mutations are autosomal recessive (AR); the most common AR gene affected is neutrophil cytosolic factor 1 (NCF1), encoding p47 phox (Winkelstein et al 2000). In the Middle East, most patients have autosomal recessive mutations as opposed to the X-linked CYBB gene (Fattahi et al 2011;Al-Muhsen and Alsum 2012;Koker et al 2013). …”

Section: Introductionmentioning

confidence: 99%

Chronic granulomatous disease with an initial presentation of arthritis and oral ulcers

2016

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Chronic granulomatous disease (CGD) is an inherited defect of leukocyte phagocytic function leading to recurrent infections. Autoimmune manifestations are reported in up to 6% of patients with CGD. We report a case of CGD presenting with arthritis as the first manifestation of disease. A 12-year-old Pakistani male of consanguineous parents presented with migratory arthritis and painless oral ulcerations of 6 months duration that were minimally responsive to nonsteroidal anti-inflammatory treatment. Initial assessment demonstrated elevated inflammatory markers (ESR 62), weakly positive ANA (titer 1:40), negative anti-DsDNA, and negative RF. He presented to the emergency department with fevers and arthritis. Repeat work-up suggested early Macrophage Activation Syndrome: normocytic anemia (Hgb 95 g/L), thrombocytopenia (Plt 141 × 10 9 /L), elevated LDH 1603, ferritin 1230 mcg/L, ESR 127, CRP 9.3, hypertiglycerdemia (3.2 mmoL/L) and mild transaminitis (ALT 63, AST 87), normal bone marrow (no hemophagocytosis), but mildly elevated Soluble CD 136 (1086 ng/mL) and Soluble IL-2 receptor (CD25) (1698 U/mL). He was treated with oral prednisone with symptom resolution. The arthritis relapsed after 1 month and the patient developed fever, productive cough, and pleuritic chest pain. Chest imaging revealed multiple nodular opacities and enlarged mediastinal lymph nodes. Aspergillus fumigatus complex was isolated from induced sputum prompting screening for primary immunodeficiency. Neutrophil oxidative burst function, as assessed by a dihydrorhodamine flow cytometry based assay, was low at 1.26 and 1.48 (normal range 32-300). Genetic analysis showed a previously described mutation in the NCF1 gene confirming the diagnosis of autosomal-recessive CGD. CGD can present with an exclusively rheumatologic presentation including arthritis and oral ulceration. Statement of Novelty:This case demonstrates that CGD can present with rheumatological symptoms prior to any infectious features.

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Inheritance Pattern and Clinical Aspects of 93 Iranian Patients with Chronic Granulomatous Disease

Abstract: Although XL-CGD is the most common type of the disease worldwide, only 12 patients (12.9%) were XL-CGD in our study. The relatively high frequency of AR-CGD is probable due to widely common consanguineous marriages in Iran.

Cited by 98 publications

References 35 publications

Clinical, Laboratory, and Molecular Findings for 63 Patients With Severe Combined Immunodeficiency: A Decade's Experience

Clinical, Laboratory, and Molecular Findings for 63 Patients With Severe Combined Immunodeficiency: A Decade's Experience

Common Infections and Target Organs Associated with Chronic Granulomatous Disease in Iran

Chronic granulomatous disease with an initial presentation of arthritis and oral ulcers

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