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Common variable immunodeficiency

This is part of Rare diseases.

Diagnosis: Common variable immunodeficiency

Synonyms: CVID, Hypogammaglobulinaemia

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Date of publication: 2012-02-08
Version: 3.0

The disease

Common variable immunodeficiency (CVID) is the most prevalent form of immunoglobulin deficiency or hypogammaglobulinaemia. The term “common” however is a relative term, as prevalence is still very low. The disease is characterised by increased susceptibility to infections and autoimmune diseases. The term “variable” refers to the nature and severity of symptoms associated with the immunodeficiency, which can present in widely different ways. It is likely that common variable immunodeficiency includes several distinct conditions that remain to be identified.

Occurrence

The exact incidence of the disorder is difficult to determine, but it is estimated that there are between 200 and 300 individuals with common variable immunodeficiency in Sweden. The disease is more often found in women than men.

Cause

Common variable immunodeficiency has several causes, knowledge of which is limited. Other possible causes of immunoglobulin deficiency should be eliminated before a diagnosis is made. Research in recent decades has revealed that some individuals have been wrongly diagnosed with common variable immunodeficiency when they have had other, very rare, hereditary conditions caused by mutations in different genes controlling the development and/or functioning of the immune system.

Currently the disease is often classified in sub-groups according to symptoms, laboratory results and complications. This is done in order to provide better information on prognosis and treatment, and to help in research.

Research is focused on finding mutations in certain genes, which together lead to an impairment of the immune system and cause common variable immunodeficiency. Variation in the formation of genes (polymorphism) affects the normal functioning of the proteins they produce. Polymorphism in several of the genes of the immune system is believed to create preconditions favourable to the development of hypogammaglobulinaemia, for example after certain infections.

Heredity

It is believed that common variable immunodeficiency is not hereditary. However, polymorphisms are inherited, explaining why many families where one individual has been found to have common variable immunodeficiency also contains individuals with the same or another immunodeficiency believed to have a similar cause. Selective immunoglobulin A deficiency and IgG subclass deficiency are two such diseases. Autoimmune diseases also occur more frequently in relatives of people with common variable immunodeficiency. In selective immunoglobulin A deficiency, only one of the immunoglobulins, immunoglobulin A (IgA), is absent. In IgG subclass deficiency, insufficient quantities of one, or several, subclasses of immunglobulin G (IgG) are produced.

Symptoms

In common variable immunodeficiency the B lymphocytes (white blood cells producing antibodies), are either low in number or function poorly. This leads to low levels of immunoglobulins and hence an impaired resistance to bacterial infections. Some individuals with the disease also have poorly functioning T lymphocytes, the white blood cells which protect primarily against viral, fungal, and parasitic infections. T lymphocytes also play an important role in coordinating the immune system.

The severity of the disease varies depending on the degree to which the immune system is impaired. Symptoms may present at any age. Although it is possible to be affected as early as the age of two, the usual age of onset is in adolescence or early adulthood.

Infections

The most common indication of common variable immunodeficiency is recurrent infections which do not respond well to treatment. A healthy immune system responds to antigens (foreign substances) by triggering inflammation. The body temperature rises and the person with the infection begins to feel unwell. Immunodeficiency is generally associated with a low inflammatory response and hence people with the disease feel less unwell, and experience fewer symptoms, than others experiencing an inflammatory response but not having common variable immunodeficiency. For this reason it is important that it is recognised that people with common variable immunodeficiency may not feel as unwell as others with the same illness. When experiencing an infection they seldom have a high temperature although they may feel inexplicably tired. There is a risk that signs of an infection are misinterpreted, both by the physician and the person with the immunodeficiency. Like many children with other chronic diseases, children with common variable immunodeficiency may fail to thrive.

Recurring bacterial infections, especially in the respiratory tract, are characteristic of common variable immunodeficiency. The most common ones include sinusitis (an infection affecting the sinuses), otitis (infection of the ears), conjunctivitis (infection of the eyes), pneumonia, and gastro-intestinal tract infections with long bouts of diarrhoea. As infections tend to be lengthy, it is often advisable to prolong antibiotic treatment. The risk of developing more serious infections, such as sepsis (bloodstream infection), meningitis or osteomyelitis (acute or chronic bone infection) is also elevated. Bacteria may attack the joints, causing problems similar to rheumatoid arthritis although these symptoms usually disappear with the correct treatment. Although most infections are caused by common bacteria which may affect the majority of people, individuals with common variable immunodeficiency may become ill from bacterial infections that are normally not harmful to healthy individuals (“opportunistic” bacteria).

T lymphocyte deficiency increases susceptibility to viral or fungal infections. Some viruses, including the polio virus and certain gastro-intestinal tract viruses, may also cause serious infections in people who are deficient in antibodies.

Autoimmunity

Autoimmune diseases, in which the immune system attacks the body’s own tissues as a result of impaired T lymphocyte activity, are more common in people with the disease than in the general population. Approximately 10 per cent of those with common variable immunodeficiency are affected by different autoimmune diseases. The most common are autoimmune diseases of the blood including immunological thrombocytopenia (autoimmune blood platelet deficiency) and autoimmune haematolytic anaemia (anaemia caused by autoimmune destruction of red blood cells). Other common autoimmune disorders include inflammatory intestinal diseases, rheumatoid arthritis, enlarged thyroid gland and diabetes.

Granulomas

A granuloma is a limited area of inflammation characterised by hard areas or lumps in the internal organs. Granulomas present when the body’s defence against different pathogens does not function as it should. If granulomas are large they may affect normal organ function. In common variable immunodeficiency, granulomas present in the lungs, liver, and intestines.

Risk of pulmonary damage

As the age of onset varies widely and symptoms are often difficult to interpret, it may take many years before the condition is diagnosed accurately. In the long term, recurrent, prolonged bouts of infection can cause organ damage. If common variable immunodeficiency is left untreated, there is a high risk of damage to the lungs.

Increased risk of cancer

People with the disease run a slightly increased risk of developing tumours in the stomach and the lymphatic cells (lymphoma).

Diagnosis

Recurrent, difficult-to-treat respiratory tract infections, and in particular severe bacterial infections, indicate the need to measure levels of immunoglobulins in the blood. In common variable immunodeficiency, levels of several or all the immunoglobulins (IgM, IgG, IgA and IgE) are low. If immunoglobulin concentrations are low, the investigation should be widened and the number of T lymphocytes in the blood should also be measured. The functioning of T and B lymphocytes should be tested, for example by establishing whether normal levels of antibodies are present in the blood after an infection or a vaccination.

To confirm a diagnosis of common variable immunodeficiency the concentration of IgG in the blood (serum level) should be less than 3 g/L, IgA less than 0.07 g/L, and the concentration of IgM should be normal or below normal. As it can be difficult to eliminate other causes of common variable immunodeficiency in small children, diagnosis is not made in children younger than four.

As symptoms of common variable immunodeficiency can be difficult to interpret it may be appropriate to investigate whether anyone else in the family shows signs of an immunodeficiency and requires treatment.

Common variable immunodeficiency is a form of gamma globulin deficiency, the cause of which is unknown. It is therefore important to eliminate known causes of gamma globulin deficiency before the diagnosis is confirmed. There are many different hereditary immunodeficiencies associated with gamma globulin deficiency. There are also diseases which are not associated with the immune system but which may cause gamma globulin deficiency. Certain medications and infections can also result in hypogammaglobulinemia. Separate information on several diseases associated with gamma globulin deficiency is available in the Swedish Rare Disease Database.

Treatment/interventions

The aim of treatment is to reduce the number of infections, thus preventing the development of chronic pulmonary disease and damage to other organs. Treatment consists primarily of immunoglobulin (gamma globulin) replacement therapy in combination with other preventive measures such as prophylactic antibiotics. When the disease has been identified and appropriate treatment administered, the chances are good that the individual will be less fatigued and will lead a more healthy life.

It is important for those with the disease to attend regular check-ups with the attending physician and nurse, so treatment can be evaluated. Levels of immunoglobulins in the blood can then be measured, pulmonary function checked and signs of infection monitored. It is also important that there is time during visits to ask questions about the disease and its treatment, and to discuss how it affects leisure activities as well as life at school or work.

Gamma globulin

Individuals with common variable immunodeficiency require lifelong gamma globulin treatment. An appropriate dose of gamma globulin will help reduce the number of bacterial infections and reduce the consequent risk of organ damage. Gamma globulin is a concentrate of antibodies drawn from the plasma of several blood donors. The blood from each donor is thoroughly screened for infections such as hepatitis and HIV. Blood plasma is treated to eliminate risks from viruses or bacteria. The result is a liquid containing purified IgG antibodies as well as very small quantities of IgA and IgM antibodies. As gamma globulin is a blood product it is not possible to guarantee that it is entirely free from agents of infection, although with current production methods and the testing of blood donors, safety levels are very high.

Gamma globulin is administered by intravenous (into a vein) or subcutaneous (under the skin) infusions. Gamma globulin can also be given an intramuscular injection, but since sufficient doses cannot be administered in this way this method should not be used in common variable immunodeficiency or other immunodeficiency disorders. The choice of intravenous or subcutaneous infusions is determined in consultation with medical staff, and will depend on the individual’s age, general health, and lifestyle. Subcutaneous infusions are currently the preferred option, as such infusions are easy to administer at home.

The antibodies introduced into the body are broken down successively. Treatment is repeated at one to three week intervals, depending on how much is administered on each occasion. If gamma globulin is administered intravenously, a larger dose is usually given every third week. If it is administered subcutaneously, treatments should be more frequent and doses smaller, the advantage being that this method can be carried out at home.

The first gamma globulin treatments are quite frequently accompanied by chills and fever. If the individual has an infection, these reactions may present later. This is a normal reaction to inflammation, when antibodies in the body begin to combat infection, and is hardly ever caused by hypersensitivity.

Severe allergic reactions to gamma globulin are extremely rare. Some individuals develop headaches during intravenous infusion, but symptoms usually disappear if the drip rate is reduced.

Gamma globulin therapy usually produces rapid results. Children with the disease tend to gain weight very quickly, existing infections are eliminated and there are fewer new infections. The beneficial effects usually take longer to be felt in adults, particularly if there is damage to the lungs and intestines.

Rapid subcutaneous gamma globulin replacement therapy was introduced in Sweden in the mid-1980s. The intention was to make home treatment for people with X-linked agammaglobulinemia possible. Today, intravenous infusions can also be administered in the home. Both alternatives enable people with common variable immunodeficiency to manage their own gamma globulin treatment at home, once they have received instruction and training.

Infections and treatments

All signs of infection must be taken seriously and treatment should begin early. Antibiotics should be given in all cases of bacterial infection. In order to establish which pathogens are causing the infection and to provide the correct treatment it is important that bacteria and fungus cultures are made from secretions or pus from infected organs. An individual with common variable immunodeficiency will often require prolonged antibiotic treatment (more than one week), and if infections recur at close intervals, preventive treatment for several months or years may be necessary. Prophylactic antibiotics may be needed before certain operations in order to prevent wounds becoming infected or bacterial infections spreading through the blood stream.

Individuals with common variable immunodeficiency, or suspected common variable immunodeficiency, should not receive live vaccines without having undergone a thorough medical evaluation. Examples of live vaccines are oral polio vaccine and vaccines against measles, mumps, rubella, tuberculosis (BCG), and yellow fever. Vaccines with live or inactivated pathogens are normally administered in order to provoke the production of antibodies, creating immunity against the disease. As people with common variable immunodeficiency lack the ability to produce sufficient numbers of antibodies, certain live vaccines may cause chronic infection. Although inactivated vaccines are not harmful, they may not have the desired effect, as one of the characteristics of common variable immunodeficiency is the absent or impaired production of antibodies. However, the immune systems of some individuals with common variable immunodeficiency may improve if they are vaccinated against Streptococcus pneumoniae, Hemophilus influenzae, and influenza. It may be essential to repeat vaccinations if the desired effect is to be achieved. It is important that the effectiveness of the vaccine is checked after it has been administered.

Granulomas (small areas of inflammation as a result of tissue injury) sometimes affect organ function and require prompt treatment. Treatment includes cortisone and other anti-inflammatory medications. Any infections should be noted and treated simultaneously.

As a rule, preschools are unsuitable for children with common variable immunodeficiency. Neither should adults with the disease work with preschool children as, between the ages of two and four, children have the highest incidence of infections. At this age, even children who appear to be healthy often carry bacteria that can cause respiratory tract infections in the nose and throat, posing a particular threat to children and adults with immunodeficiency disorders. A childminder, preferably with a small group of slightly older children, is a good alternative.

The frequency of infections in healthy children normally drops significantly after the age of six or seven. For this reason, school is rarely a problem to the same extent as preschool. Special arrangements are not normally necessary, although teachers and staff need to be informed about the condition to understand that the child may often be absent. During periods when many children in the class have infections, the child may need to be kept at home. For this reason the school should have a plan for how the child can achieve his or her educational goals despite the possibility of prolonged periods of absence.

The most common types of bacteria causing respiratory tract infections are spread via the hands. Frequent hand-washing is therefore important, particularly after contact with others.

Regular physical exercise is recommended. A good basic level of physical fitness helps the individual combat infections and other types of physical stress. A physiotherapist can recommend suitable activities and put together an exercise programme for those who are affected by inflammation of the joints and muscles. It is always best to avoid strenuous exercise during an infection as it may interfere with the healing process.

Recurrent infections may lead to tissue damage in the lungs. Breathing exercises, in combination with bronchodilating inhalers and expectorants, are effective at removing phlegm and preventing severe, long-lasting infections. Different types of physical activity stimulate deep breathing and spontaneous coughing. For young children, beneficial activities include rocking on a large ball or using a baby bouncer.

Some people with common variable immunodeficiency develop oral infections and mucous membrane abnormalities, and may require specialist dental care. Regular dental care and good levels of oral hygiene are important to prevent gingivitis and periodontitis. Antibiotics should be considered before dental procedures where bleeding may occur, including tooth extraction or the removal of plaque.

Blood transfusions

In very rare cases people with common variable immunodeficiency can develop anti-IgA antibodies. As administering blood products to people with these antibodies may cause shock and a sudden drop in blood pressure, such products should be administered with caution. If a blood transfusion is essential, blood can be treated before use to reduce the risk of adverse reactions. However, the administration of gamma globulin with very low IgA concentrations rarely poses a problem. Individuals with anti-IgA antibodies should be well-informed about their condition and are advised to always carry a medical information card to show as required.

Only irradiated blood products should be used for individuals with T lymphocyte deficiency or suspected T lymphocyte deficiency, in order to prevent serious reactions to blood transfusions.

Lifestyle

Because of recurring infections the mucous membranes of a person with variable immunodeficiency are easily damaged, and they should not be further aggravated by smoking. Tobacco smoke damages the mucous membranes of the respiratory tract, reducing their ability to effectively remove phlegm and infectious agents. The same negative effects result from passive smoking, for instance if family members smoke or when the individual spends time in smoky environments.

Individuals with common variable immunodeficiency should avoid professions that require contact with many people, particularly young children, as this increases the risk of infection. Exposure to strong chemicals and work in dusty, dirty environments should also be avoided.

Common variable immunodeficiency is a disorder with no outward signs. For that reason people may not always understand its physical effects. Information about common variable immunodeficiency should be given to pre-schools, schools and workplaces in order to increase awareness and understanding of the special needs of individuals with the disorder.

Having a child who is particularly sensitive to infection can be difficult for parents, and lead to social isolation. The whole family often needs psychological and social support. If parents wish, they should also be offered the opportunity to contact other families in a similar situation with whom they can share their experiences. The family may also need help in coordinating different forms of assistance.

Practical advice

Hand hygiene is very important. Smoky or dusty places are to be avoided, as are large crowds during periods when infections are common.

Care should be taken with regard to food and hygiene during trips abroad as they often increase contact with new types of bacteria. A doctor should be consulted about what sort of medication and medical supplies should be taken on the trip. For maximum protection against infections, gammagobulin should be administered as close to the time of departure as possible. Individuals who administer their own gamma globulin should continue to do so as usual. If immunoglobulin and infusion equipment are taken abroad, the customs authorities will require a certificate. An information letter in the appropriate language and contact details to the attending physician in Sweden should also be carried.

Air humidifiers easily spread bacteria and fungus. If a humidifier is necessary, it should be regularly disinfected with bleach.

National and regional resources in Sweden

Children and young people

Paediatric Immunology, Department of Medicine, The Queen Silvia Children’s Hospital, SE-416 85 Gothenburg, Sweden. Tel: +46 31 343 40 00.

Adults

Infection Clinic, Sahlgrenska University Hospital/Östra, SE-416 85 Gothenburg, Sweden. Tel: +46 31 343 40 00.

Immunodeficiency Unit, F71, Karolinska University Hospital, Huddinge, SE-141 86 Stockholm, Sweden. Tel: +46 8 585 800 75.

Resource personnel

Children and young people

Professor Anders Fasth, Paediatric Immunology,The Queen Silvia Children’s Hospital, SE-416 85 Gothenburg, Sweden. Tel: +46 31 343 40 00, fax: +46 31 84 30 10, email: anders.fasth@gu.se.

Doctor Nicholas Brodszki, The Children’s Hospital, Skåne University Hospital/Lund, SE-221 85 Lund, Sweden. Tel: +46 17 10 00, fax: +46 14 54 59, email: nicholas.brodszki@skane.se.

Adults

Professor Janne Björkander, Respiratory Medicine and Allergy Clinic, Ryhov County Hospital, SE-551 85 Jönköping, Sweden. Tel: +46 36 32 10 00, fax: +46 36 32 21 58, email: janne.bjorkander@lj.se.

Senior Physician Vanda Friman, Infection Clinic, Sahlgrenska University Hospital/Östra, SE-416 85 Gothenburg, Sweden. Tel: +46 31 343 40 00.

Senior Physician Carl Granert, Immunodeficiency Unit, F71, Karolinska University Hospital, Huddinge, SE-141 86 Stockholm, Sweden. Tel: +46 8 585 800 00.

Courses, exchanges of experience, recreation

PIO (Primary Immunodeficiency Organization) organises regular lectures and information meetings on immunodeficiency for people with the disease and their relatives. Weekend courses are held annually by PIO for children and young people with primary immunodeficiency disorders and their families. At regular intervals, PIO and the Nordic immunodeficiency associations organise joint meetings lasting a few days. They offer excellent opportunities for learning and exchanging information. For further information contact PIO. Find address under, “Organizations for the disabled/patient associations.”

IPOPI, the International Patient Organisation for Patients with Primary Immunodeficiencies, of which PIO is an affiliate, arranges a conference in conjunction with a biennial international medical conference for doctors and nurses interested in immunodeficiencies. IPOPI conferences are conducted in English. For further information, contact PIO, under “Organizations for the disabled/patient associations.”

Ågrenska is a national competence centre for rare diseases and its families’ programme arranges stays for children and young people with rare diseases and their families. The centre, located near Gothenburg, Sweden is open to families from the whole of Sweden and focuses particularly on the needs of children and young people with rare diseases. For information, please contact Ågrenska, Box 2058, SE-436 02 Hovås, Sweden. Tel: +46 31 750 91 00, fax: +46 31 91 19 79, email: agrenska@agrenska.se, www.agrenska.se.

Organizations for the disabled/patient associations

PIO, The Primary Immunodeficiency Organisation in Sweden, Mellringevägen 120 B, SE-703 53 Örebro, Sweden. Tel: +46 19 673 21 24, email: pio@telia.com, www.pio.nu.

Courses, exchanges of experience for personnel

SLIPI, Swedish Physicians’ Association for Primary Immunodeficiencies organises meetings and conferences, www.slipi.nu.

SISSI, Swedish Nurses’ Association for Primary Immunodeficiencies.The association publishes a worksheet and has regular conferences for members. In alternate years this is organized in collaboration with ESID, IPOPI and INGID, www.sissi.nu.

ESID, European Society for Immunodeficiencies.
The Society has regular international conferences and summer schools for doctors and researchers, www.esid.org.

INGID, International Nursing Group for Immunodeficiencies. The Group arranges international meetings in collaboration with ESID and the international patient organization IPOPI, www.ingid.org.

Research and development (R&D)

Clinical research

Infection Clinic, Sahlgrenska University Hospital/Östra, SE-416 85 Gothenburg, Sweden. Tel: +46 31 343 40 00.

Paediatric Immunology, Department of Medicine, The Queen Silvia Children’s Hospital, SE-416 85 Gothenburg, Sweden. Tel: +46 31 343 40 00.

Immunodeficiency Unit, F71, Karolinska University Hospital, Huddinge, SE-141 86 Stockholm, Sweden. Tel: +46 8 585 813 75.

Genetic research

Professor Lennart Hammarström, Clinical Immunology, Karolinska University Hospital, Huddinge, SE-141 86 Stockholm, Sweden. Tel: +46 8 524 835 86, fax: +46 8 524 835 88, email: lennart.hammarstrom@ki.se.

Research into forms of care

Associate Professor Ann Gardulf, Institute of Laboratory Medicine, Alfred Nobels Allé 8, SE-141 83 Stockholm, Sweden. Tel: +46 524 835 96, email: ann.gardulf@ki.se.

Information material

An information booklet on common variable immunodeficiency, which summarises the information in this database text, is available free of charge from the customer service department of the Swedish National Board of Health and Welfare (in Swedish only, article number 09/10/2011). Address: SE-120 88 Stockholm, Sweden. Tel: +46 75 247 38 80, fax: +46 35 19 75 29, email: publikationsservice@socialstyrelsen.se. Postage will be charged for bulk orders.

The material below can be ordered from PIO (Primary Immunodeficiency Organization). See contact information under “Organizations for the disabled/patient associations etc.” Unless otherwise mentioned, in Swedish only.

  • Primär immunbrist hos barn och vuxna. (Primary immunodeficiencies in children and adults.) Ninth edition, 2010.
  • Så mår immunförsvaret bättre. (Living with primary immunodeficiency. Some practical advice.) 2003.
  • The story of primary immunodeficiency. (In English.) 1999.
  • En skola för alla. (Practical advice on creating a better school environment for those with primary immunodeficiency. One file for the school and one for the person with the disease.) Third edition, 2010.
  • Studera med primär immunbrist. (Practical advice for university or college students with primary immunodeficiency, and their institutions. One brochure for the institution and one for the student.) First edition, 2008.
  • Lathund för ansökan av vårdbidrag. (Summary of how to apply for care allowance.) Updated, 2008.

IDF Patient & Family Handbook for Primary Immunodeficiency Diseases, 5th Edition, USA 2013. This book may be downloaded as a PDF file from the organisation’s website, http://primaryimmune.org/idf-publications.

Att leva med Sotos syndrom. (En ALPI studie.) A study led by Associate Professor Ann Gardulf. Three reports from the Karolinska Institute were published on its website in 2008. http://ki.se/ki/jsp/polopoly.jsp?d=16775&l=en

Literature

Ardeniz O, Cunningham-Rundles C. Granulomatous disease in common
variable immunodeficiency. Clin Immunol 2009; 133: 198-207.

Berger M. Principles of and advances in immunoglobulin replacement therapy for primary immunodeficiency. Immunol Allergy Clin North Am 2008; 28: 413-437.

Busse PJ, Razvi S, Cunningham-Rundles C. Efficacy of intravenous immunoglobulin in the prevention of pneumonia in patients with common variable immunodeficiency. Allergy Clin Immunol 2002; 109: 1001-1004.

Cunningham-Rundles C, Bodian C. Common variable immunodeficiency: clinical and immunological features of 248 patients. Clin Immunol 1999; 92: 34-48.

Gardulf A. Immunoglobulin treatment for primary antibody deficiencies: advantages of the subcutaneous route. BioDrugs 2007; 21: 105-116.

Gardulf A, Andersson E, Lindqvist M, Hansen S, Gustafson R. Rapid subcutaneous IgG replacement therapy at home for pregnant immunodeficient women. J Clin Immunol 2001; 21150-21154.

Knight AK, Cunningham-Rundles C. Inflammatory and autoimmune complications of common variable immune deficiency. Autoimmun Rev 2006; 5: 156-159.

Mellemkjaer L, Hammarstrom L, Andersen V, Yuen J, Heilmann C, Barington et al. Cancer risk among patients with IgA deficiency or common variable immunodeficiency and their relatives: a combined Danish and Swedish study. Clin Exp Immunol 2002; 130: 495-500.

Morimoto Y, Routes JM. Granulomatous disease in common variable immunodeficiency. Curr Allergy Asthma Rep 2005; 5: 370-375.

Notarangelo LD, Fischer A, Geha RS, Casanova JL, Chapel H, Conley ME et al. International Union of Immunological Societies Expert Committee on Primary Immunodeficiencies. Primary immunodeficiencies: 2009 update. J Allergy Clin Immunol 2009; 124: 1161-1178. Erratum in: J Allergy Clin Immunol 2010; 125: 771-773.

Orange JS, Glessner JT, Resnick E, Sullivan KE, Lucas M, Ferry B et al. Genome-wide association identifies diverse causes of common variable immunodeficiency. J Allergy Clin Immunol 2011; 127: 1360-1367.

Oksenhendler E, Gérard L, Fieschi C, Malphettes M, Mouillot G, Jaussaud R et al. Infections in 252 patients with common variable immunodeficiency. Clin Infect Dis 2008; 15: 1547-1554.

Quinti I, Soresina A, Spadaro G, Martino S, Donnanno S, Agostini C et al. Long-term follow-up and outcome of a large cohort of patients with common variable immunodeficiency. Clin Immunol 2007; 27: 308-316.

da Silva SP, Resnick E, Lucas M, Lortan J, Patel S, Cunningham-Rundles C et al. Lymphoid proliferations of indeterminate malignant potential arising in adults with common variable immunodeficiency disorders: Unusual case studies and immunohistological review in the light of possible causative events. J Clin Immunol. 2011 Jul 9. [Epub ahead of print].

Vorechovsky I, Cullen M, Carrington M, Hammarstrom L, Webster AD. Fine mapping of IGAD1 in IgA deficiency and common variable immunodeficiency: identification and characterization of haplotypes shared by affected members of 101 multiple-case families. J Immunol 2000; 164: 4408-4416.

Wang J, Cunningham-Rundles C. Treatment and outcome of autoimmune hematologic disease in common variable immunodeficiency (CVID). J Autoimmun 2005; 25: 57-62.

Wehr C, Kivioja T, Schmitt C, Ferry B, Witte T, Eren E et al. The EUROclass trial: defining subgroups in common variable immunodeficiency. Blood 2008; 111: 77-85.

Database references

OMIM (Online Mendelian Inheritance in Man)
www.ncbi.nlm.nih.gov/omim 
Search: common variable hypogammaglobulinemia

GeneReviews (University of Washington)
www.genetests.org (klicka på GeneReviews, sedan Titles)
Search: common variable immune deficiency overview

Document information

The Swedish Information Centre for Rare Diseases produced and edited this information material.

The medical expert who wrote the draft of this information material is Professor Anders Fasth, The Queen Silvia Children’s Hospital, Gothenburg, Sweden.

The relevant organisations for the disabled/patient associations have been given the opportunity to comment on the content of the text.

An expert group on rare diseases, affiliated with the University of Gothenburg, approved the material prior to publication.

Date of publication: 2012-02-08
Version: 3.0
Publication date of the Swedish version: 2011-12-15

For enquiries contact The Swedish Information Centre for Rare Diseases, The Sahlgrenska Academy at the University of Gothenburg, Box 400, SE-405 30 Gothenburg, Sweden. Tel: + 46 31 786 55 90, email: ovanligadiagnoser@gu.se.

 

About the database

This knowledge database provides information on rare diseases and conditions. The information is not intended to be a substitute for professional medical care, nor is it intended to be used as a basis for diagnosis or treatment.