An Introduction to Primary Immunodeficiency Diseases

Rezaei, Nima; Bonilla, Francisco A.; Sullivan, Kathleen E.; Vries, Esther de

doi:10.1007/978-3-540-78936-9_1

Cited by 19 publications

(21 citation statements)

References 203 publications

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“…Although the main clinical presentations are recurrent and chronic infections, patients also have an increased incidence of autoimmunity, lymphoproliferative disorders, and cancers [1][2][3][4]. The incidence and prevalence of PIDs are unknown, although they are estimated to affect between 1:10 000 and 1:600 individuals in over 40 countries [5]. Recent advances in molecular genetics and immunology have led to the detection of several causative genes and a better knowledge of the pathogenesis of PIDs.…”

Section: Introductionmentioning

confidence: 99%

Infectious and Noninfectious Pulmonary Complications in Patients With Primary Immunodeficiency Disorders

Yazdani

Abolhassani

et al. 2017

J Investig Allergol Clin Immunol

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Primary immunodeficiency disorders (PIDs) are caused by 1 or more defects of the immune system. Patients are more likely to experience recurrent and/or severe infections and tend to develop a wide range of complications. Respiratory diseases are the main and initial manifestation in most cases and the most common complication. Pulmonary complications cause significant morbidity and mortality in patients with PIDs. Early diagnosis and appropriate treatment can prevent or at least slow the development of respiratory complications. Since the spectrum of pulmonary complications in PIDs is broad, we divided pulmonary complications into upper respiratory complications (eg, sinusitis, otitis media, and laryngeal angioedema) and lower respiratory complications (eg, pneumonia, bronchitis, bronchiectasis, interstitial lung diseases, organizing pneumonia, pulmonary adenopathies and malignancies, hyperreactive airway diseases, pulmonary dysgenesis, and adverse reactions to treatment). This review covers the main respiratory manifestations in patients with PIDs. Key words: Primary immunodeficiency disorders. Pulmonary complications. Upper respiratory tract. Lower respiratory tract. ResumenLas inmunodeficiencias primarias (PIDs) son enfermedades causadas por uno o más defectos del sistema inmunológico. Estos pacientes presentan con frecuencia infecciones recidivantes y/o severas así como otro tipo de complicaciones. Las patologías respiratorias son la principal y más frecuente manifestación y complicación de las PIDs. Las complicaciones de estas patologías pulmonares constituyen una de las principales causas de morbimortalidad entre los pacientes que sufren PIDs. El diagnóstico temprano y el tratamiento adecuado pueden prevenir, o al menos retrasar, la aparición de las complicaciones respiratorias en estos pacientes. Dado que el espectro de las enfermedades pulmonares es muy amplio, hemos dividido estas complicaciones entre aquellas que afectan a las vías aéreas superiores (sinusitis, otitis media y angioedema laríngeo, etc.) y las que afectan a las vías aéreas bajas (neumonía, bronquitis, bronquiectasias, enfermedades pulmonares intersticiales, neumonía organizada, adenopatías pulmonares y neoplasias, hiperreactividad bronquial, disgenesia pulmonar y las debidas a los efectos secundarios del tratamiento instaurado). Este artículo revisa las manifestaciones respiratorias que se observan más frecuentemente en los pacientes con PIDs. Palabras clave: Inmunodeficiencias primarias. Complicaciones pulmonares. Vías respiratorias altas. Vías respiratorias bajas.

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Section: Introductionmentioning

confidence: 99%

Infectious and Noninfectious Pulmonary Complications in Patients With Primary Immunodeficiency Disorders

Yazdani

Abolhassani

et al. 2017

J Investig Allergol Clin Immunol

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“…The incidences and prevalences of all forms of primary immunodeficiency estimated from reports of surveys or registries in over 40 countries range from 1:10,000 to 1:2,000 individuals (113). However, this is suspected to be an underestimate since it is likely that many cases of immunodeficiency are undiagnosed.…”

Section: Introductionmentioning

confidence: 99%

Pathogenesis, Diagnosis, and Management of Primary Antibody Deficiencies and Infections

2009

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SUMMARY Primary antibody deficiencies are the most common primary immunodeficiency diseases. They are a heterogeneous group of disorders with various degrees of dysfunctional antibody production resulting from a disruption of B-cell differentiation at different stages. While there has been tremendous recent progress in the understanding of some of these disorders, the etiology remains unknown for the majority of patients. As there is a large spectrum of underlying defects, the age at presentation varies widely, and the clinical manifestations range from an almost complete absence of B cells and serum immunoglobulins to selectively impaired antibody responses to specific antigens with normal total serum immunoglobulin concentrations. However, all of these disorders share an increased susceptibility to infections, affecting predominantly the respiratory tract. A delay of appropriate treatment for some diseases can result in serious complications related to infections, while timely diagnosis and adequate therapy can significantly decrease morbidity and increase life expectancy and quality of life.

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“…Being reported as 56.1% according to the ESID and LAGID registries, this rate was found to be higher in similar studies performed in Turkey (2,13,14).…”

Section: Discussionmentioning

confidence: 73%

“…One of the most frequent conditions among primary immunodeficiencies is humoral immunodeficiencies which are characterized with severe decrease in all serum immunoglobulins accompanied by the low number or lack of B cells (2). Immune functions should be assessed in an individual who is showing a sign of a specific immune disorder, or is observed to have unusual, chronic or recurrent infections (3).…”

Section: Introductionmentioning

confidence: 99%

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Retrospective evaluation of patients with humoral immune deficiency

Cansever¹,

Patıroğlu²

2018

J Turgut Ozal Med Cent

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Aim: Patients, who were being followed up for the last 10 years by Pediatric Immunology unit of the Faculty of Medicine at Erciyes University, were evaluated retrospectively in order to contribute toward the early diagnosis and the treatment of patients with humoral immunodeficiency. Material and Methods: 412 patients with humoral immunodeficiency were evaluated retrospectively. Patients' age, gender, consanguineous marriages, family history of immune deficiency or similar diseases were studied at the time of complaints and diagnosis. Results: Humoral immune deficiency was found among 412 out of 536 (76.8%) patients, who were being followed up because of primary immune deficiency. Although the average age of patients at the time of diagnosis was 48.9±4.6 months, the average age was 28.6±33.4 months at the start of complaints. Transient hypogammaglobinemia of infancy was observed the most among patients (50.5%), followed by IgA deficiency (28.4% ), hypogammaglobinemia (6.8%), IgA +IgM deficiency (3.6%), IgG subclass deficiency (3.2%), Common variable immunodeficiency (2.4%), Bruton disease (1.2%), and hyper IgM syndrome (0.5%) respectively. IVIG replacements were given regularly to patients who were diagnosed with either hypogammaglobinemia, CVID, Bruton disease and hyper IgM. Conclusions: In patients with recurrent infections, we need to certainly consider immune deficiency diseases first. Also, we need to be aware of the fact that humoral immune deficiency would relatively be diagnosable and treatable in most of these diseases. Finally,we need to educate the public about the role of marriages among relatives in order to decrease the frequency of these diseases.

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An Introduction to Primary Immunodeficiency Diseases

Cited by 19 publications

References 203 publications

Infectious and Noninfectious Pulmonary Complications in Patients With Primary Immunodeficiency Disorders

Infectious and Noninfectious Pulmonary Complications in Patients With Primary Immunodeficiency Disorders

Pathogenesis, Diagnosis, and Management of Primary Antibody Deficiencies and Infections

Retrospective evaluation of patients with humoral immune deficiency

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