Consanguinity in Primary Immunodeficiency Disorders; the Report from Iranian Primary Immunodeficiency Registry

Rezaei, Nima; Pourpak, Zahra; Aghamohammadi, Asghar; Farhoudi, A.; Movahedi, Masoud; Gharagozlou, Mohammad; Ghazi, Bahram Mirsaeid; Atarod, Lida; Abolmaali, Kamran; Mahmoudi, Maryam; Mansouri, Davood; Arshi, Saba; Tarash, N Javaher; Sherkat, Roya; Amin, Reza; Kashef, Sara; Hosseini, Reza Farid; Mohammadzadeh, Iraj; Shabestari, Mahnaz Sadeghi; Nabavi, Mohammad; Moin, Mostafa

doi:10.1111/j.1600-0897.2006.00409.x

Cited by 87 publications

(71 citation statements)

References 22 publications

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“…However, the actual number of PIDs has been shown to be higher than previously reported, especially in countries such as Iran, which have a high rate of consanguinity [3], and in other countries, where a large number of early deaths of unknown cause have been reported [4]. It is difficult to determine the exact number of cases of SCID in Iran before conducting newborn screening for SCID, although it seems to be greater than that we initially thought [5].…”

Section: Introductioncontrasting

confidence: 42%

“…The dominant phenotype of SCID varies according to the country. For example, in China, 25 of 44 SCID patients had X-linked SCID [12], and in Serbia and Montenegro, 12 of 21 patients with SCID and Omenn syndrome belonged to the T -B -NK + SCID phenotype; 11 had mutations in RAG1 or RAG2 and 1 had mutations in the Artemis gene [3]. In Greece, 12 of 30 SCID patients (40%) were T -B -NK + [13].…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

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: Introductioncontrasting

confidence: 42%

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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“…High rate of parental consanguinity of in our study may be somewhat due to the high rate of consanguinity of marriages in Iran which is estimated to be around 38.6% [9] which may also affect the clinical features of our cases.…”

Section: Discussionmentioning

confidence: 79%

Primary Ciliary Dyskinesia in Six Patients with Bronchiectasis

Modaresi

Sadeghi

Mohammadinejad

et al. 2016

Advances in Respiratory Medicine

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Introduction: Primary ciliary dyskinesia [PCD] is generally considered as a rare autosomal recessive disorder. Previous studies reported various prevalence of PCD among patients with bronchiectasis. Material and methods: Six PCD patients who were diagnosed during the investigation of 40 patients with bronchiectasis were enrolled in this study. Ultra structural studies for both epithelium and cilia were performed, and the deformities in detailed electron microscopic images confirmed the diagnosis of PCD. Results: Four patients experienced the first symptoms shortly after the birth, 1 by the age of 1 and 1 by the age of 4 years. Except of 1 case that was diagnosed 2 months after the onset of disease, diagnosis delay was longer than 5 years in all patients. Consanguineous marriage was observed in the parents of all patients. Upper respiratory tract infections were documented for all patients. Conclusions: PCD should be considered as a probable underlying disorder in patients with bronchiectasis. Past medical history of otitis media and history of similar clinical findings in family members should raise suspicion toward PCD.

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“…CVID is the most frequent primary immunodeficiency disease in Iran (3,21), which may be a consequence of the genetic backgrounds in the region and the high consanguinity rate in the Iranian population (23). As the genetic defects leading to CVID remain largely undiscovered, there have been several attempts to subclassify the patients according to various functional and quantitative B-and T-lymphocyte abnormalities (4,25,26).…”

Section: Discussionmentioning

confidence: 99%

Serum Bactericidal Antibody Responses to Meningococcal Polysaccharide Vaccination as a Basis for Clinical Classification of Common Variable Immunodeficiency

Rezaei

Aghamohammadi

Siadat

et al. 2008

Clin Vaccine Immunol

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Common variable immunodeficiency (CVID) is a heterogeneous group of disorders characterized by hypogammaglobulinemia and increased susceptibility to recurrent pyogenic infections. This study was performed to subclassify CVID on the basis of the bactericidal antibody responses of patients to polysaccharide meningococcal vaccine. Twenty-five patients with CVID (18 male and 7 female) and 25 healthy volunteers received meningococcal polysaccharide vaccine A ؉ C. Serum bactericidal antibody (SBA) titers were measured at baseline and after 3 weeks. Response was correlated with clinical and immunological manifestations of CVID. Twenty-four (96%) of the 25 normal controls had a protective SBA titer of >8 postvaccination, whereas only 16 (64%) of the 25 CVID patients had a protective titer (P value ‫؍‬ 0.013). Among the patients with CVID who were nonresponders, there were significantly increased rates of bronchiectasis (P ‫؍‬ 0.008), splenomegaly (P ‫؍‬ 0.016), and autoimmunity (P ‫؍‬ 0.034) in comparison with patients who had protective SBA titers. A reversed CD4/CD8 ratio was more common in the nonresponder group of patients (P ‫؍‬ 0.053). We conclude that individuals with CVID who cannot produce protective postvaccination titers after receiving meningococcal polysaccharide vaccine are more likely to exhibit bronchiectasis, splenomegaly, and autoimmune diseases. Vaccination response may define subgroups of patients with CVID, enabling more effective monitoring and therapeutic strategies.Common variable immunodeficiency (CVID) is the most common symptomatic antibody deficiency and is characterized by hypogammaglobulinemia in the absence of any recognized genetic abnormality (8,13,21). CVID patients are susceptible to recurrent pyogenic infections (1, 8), as well as autoimmune and neoplastic diseases (6,17). Although infections of the respiratory and gastrointestinal tracts are common, some patients may present with meningitis (1, 8). Encapsulated organisms such as Streptococcus pneumoniae, Haemophilus influenzae, and Neisseria meningitidis are the most prominent pathogens in CVID patients (13,26).Despite attempts during recent decades to identify the underlying immune system defects in CVID, the pathogenesis of CVID remains unknown (26). Thus, the diagnosis of CVID is based on the genetic exclusion of other hypogammaglobulinemias that are well defined at the molecular level (11). Although the underlying pathophysiology of CVID is not clearly understood, a few general defects that lead to alteration of serum immunoglobulin concentrations have been described. Patients with CVID have a defect in B-cell differentiation that leads to impaired secretion of immunoglobulins. Additionally, several abnormalities of T cells have been reported in some patients (26).It has recently been shown that patients with CVID with loss of immunoglobulin M (IgM) memory B cells are susceptible to earlier onset of recurrent infections and more severe complications (5) than those with mild to moderate clinical manifestations. A number of other i...

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Consanguinity in Primary Immunodeficiency Disorders; the Report from Iranian Primary Immunodeficiency Registry

Abstract: It is important to inform the general population about the dangers of consanguinity, which is very common in some areas such as Iran. Premarital examination to avoid genetic diseases could be suggested, especially in a community where the rate of consanguineous marriage is high.

Cited by 87 publications

References 22 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

Primary Ciliary Dyskinesia in Six Patients with Bronchiectasis

Serum Bactericidal Antibody Responses to Meningococcal Polysaccharide Vaccination as a Basis for Clinical Classification of Common Variable Immunodeficiency

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