|Year : 2021 | Volume
| Issue : 1 | Page : 33-36
Imaging findings in common variable immunodeficiency
Suhail Rafiq, Sumiaya Kiran, Musaib Ahmad Dar, Uroosa Shabir, Sanna Birjees, Obaid Ashraf
Department of Radiodiagnosis, GMC, Srinagar, Jammu and Kashmir, India
|Date of Submission||14-Aug-2020|
|Date of Acceptance||01-Sep-2021|
|Date of Web Publication||07-Dec-2021|
Dr. Musaib Ahmad Dar
Department of Radiodiagnosis, GMC, Srinagar, Jammu and Kashmir
Source of Support: None, Conflict of Interest: None
Common variable immunodeficiency is characterized by decreased levels of immunoglobulins leading to repeated infections of chest, gastrointestinal tract, etc., Radiological findings and clinical suspicion could be helpful in diagnosing common variable immunodeficiency thereby decreasing mortality and morbidity associated with disease. We present radiological findings in a 20-year-old patient with laboratory findings supporting the diagnosis of common variable immunodeficiency.
Keywords: Bronchiectasis , immunodeficiency, Splenomegaly
|How to cite this article:|
Rafiq S, Kiran S, Dar MA, Shabir U, Birjees S, Ashraf O. Imaging findings in common variable immunodeficiency. Indian J Allergy Asthma Immunol 2021;35:33-6
|How to cite this URL:|
Rafiq S, Kiran S, Dar MA, Shabir U, Birjees S, Ashraf O. Imaging findings in common variable immunodeficiency. Indian J Allergy Asthma Immunol [serial online] 2021 [cited 2022 Jul 5];35:33-6. Available from: https://www.ijaai.in/text.asp?2021/35/1/33/331805
| Introduction|| |
Common variable immunodeficiency (CVID) is a primary immune deficiency characterized by considerably decreased levels of immunoglobulin's (Ig G, Ig A, and/or Ig M) and reduced functional antibodies predisposing the individual to recurrent infections, granulomatous diseases, and other malignancies. It is a heterogeneous disorder which causes wide cluster of symptoms leading to delayed diagnosis. CVID shows that no sexual predilection has a prevalence of 1 in every 25,000–50,000 persons., It is usually found in the age group of 20–40 years., It occurs sporadically, with some studies showing genetic predisposition. The diagnostic category represents a heterogeneous group of disorders, which includes recurrent sinopulmonary infections, gastrointestinal symptoms, lymph proliferative disorders, autoimmune manifestations, increased incidence of lymphoma, and other solid tumors., Chapel et al. had described five major clinical phenotypes of CVID: viral infections, autoimmunity, polyclonal lymphocytic infiltration, enteropathy, and malignancies.
Recurrent respiratory infections are the most common present symptom, which usually does not responding to conventional antibiotic therapy leading to the formation of bronchiectatic changes in the lungs of these patients causing significant morbidity. About 20% of CVID patients develop different gastrointestinal pathology, such as IBD, protein loss enteropathy, sprue-like-syndrome, chronic enteritis caused by giardia lamblia or campylobacter infection, celiac sprue. We present a case report of a young Kashmiri girl with symptomatic, imaging, and laboratory findings consistent with the diagnosis of CVID.,
| Case Report|| |
A 20-year-old normotensive, nondiabetic female presented in the gastroenterology department of our center with a history of chronic diarrhea, intermittent cramping abdominal pain, weight loss, and fatigue for the past 2 months. Before this patient was discharged after a prolonged stay in respiratory center for severe pneumonia complicated with sepsis and MODS). Past medical history was significant for chronic obstructive respiratory disease, recurrent pneumonias, recurrent sinusitis, and mastoiditis for which mastoidectomy was done 2 years back. The patient also complained of recurrent oral ulcers, inflammation of nail beds. However, no family history of immunodeficiency disorder or autoimmune disorder was present.
On admission, general examination revealed mild pallor, fever (99.8*F), cough, blood pressure of 109/80 mmHg and oxygen saturation of 89%, bipedal edema. Physical examination revealed bibasilar rhonchi, abdominal distension, and tenderness. Laboratory data were significant for leukocytosis of 15,700/mm and raised markers for inflammation and decreased serum albumin and reversed A: G ratio. Due to strong suspicion of an immunodeficiency disorder, screening tests of serum Ig were done and showed decreased concentration of three types Ig; Ig G 4.9 g/L, Ig A; in traces, Ig M 0.4 g/L. Lymphocyte immunophenotypisation revealed CD4_/CD8 + T cells ratio: 0.95. Switched memory B cells were decreased. Stool culture was positive for Clostridium difficile toxin initially by immunochromatographic rapid test glutamate dehydrogenase and then by polymerase chain reaction test.
The patient underwent plain chest radiograph which revealed bibasilar infiltrates. It was followed by contrast-enhanced computed tomography (CECT) of head/neck/chest and abdomen. There was evidence of left maxillary sinusitis, bilateral lower lobe bronchiectasis, centrilobular nodules with evidence of tree in bud appearance, and interlobular septal thickening. CECT abdomen revealed evidence of diffuse colonic wall thickening with shaggy mucosal outline suggestive of pseudomembranous colitis, ascites, mesenteric nodes, thrombus within right common iliac vein, splenomegaly, and enlarged kidneys with persistent nephrogram [Figure 1], [Figure 2], [Figure 3], [Figure 4].
|Figure 1: Coronal contrast-enhanced computed tomography abdomen reveals diffuse colonic wall thickening with shaggy mucosal outline and characteristic accordion sign (black arrow representing enhancing mucosa over thickened submucosa) and ascites (white arrow) and mesenteric nodes This finding is consistent with clostridium difficle/pseudomembranous colitis|
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|Figure 2: Axial contrast-enhanced computed tomography abdomen axial image showing thrombus within right common iliac vein (white arrow) thickened colonic wall with pericolic standing and ascites|
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|Figure 3: Coronal contrast-enhanced computed tomography abdomen coronal view revealed persistant nephrogram and moderate splenomegaly|
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|Figure 4: Coronal computed tomography chest revealed bilateral basilar bronchiectatic changes, thickened interlobular septa and tree in bud appearance|
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| Discussion|| |
CVID is essentially a diagnosis of exclusion, as are other causes of hypogammaglobulinemia, including known gene defects, medications, protein loss, or malignancy, must be excluded. Correct diagnosis of immunodeficiency poses great difficulty and requires detailed studies. However, the initial suspicion of immunodeficiency in a patient is possible at the level of every general practitioner. A careful investigation of past medical history is the first step in the diagnosis. Past medical history should include the presence of allergic diseases. It should be established when the first symptoms of immunodeficiency such as persistent, recurrent infections occur. Children up to 6 months of age possess maternally derived antibodies, therefore, in accordance with the European Society for the Immunodeficiency's criteria, CVID can be recognized after 2 years of age, [Table 1]. In addition to infections such as sinusitis, otitis media, bronchitis, pneumonia, or gastrointestinal disorder, the nutritional status of the patient should be evaluated. Unexplained weight loss is relatively common symptom in CVID. Besides recurrent infections, CVID patients have an increased tendency to develop autoimmunity, lymph-proliferative disease, and malignancies. Chronic diarrhea in her case was C. difficile associated pseudomembranous colitis confirmed by positive stool culture and characteristic bowel appearance on CECT abdomen. This resulted from aggressive antiobiotic treatment taken for respiratory infections watery diarrhea is seen in 20% and severe enteropathy is seen in 10% of patients with CVID. The sepsis and MODS resulted in acute kidney injury responsible for persistent nephrogram. Due to chronic diarrhea, the patient developed protein-losing enteropathy leading to hypoalbuminemia which leads to massive ascites. Recurrent sinopulmonary infections due to immunodeficiency lead to bronchiectasis and sinusitis as seen on CT chest. 20% CVID patients present with splenomegaly due to congestive red pulp, lymphoid hyperplasia, granulomatous lesions.,
|Table 1: The European Society for the immunodeficiency criteria for the diagnosis of common variable immunodeficiency|
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| Conclusion|| |
This case highlights the importance of increasing awareness among primary care doctors for suspecting and confirming a diagnosis of CVID based on clinical suspicion and imaging findings and to emphasize the need to perform basic laboratory tests and to determine Ig classes in clinical practice in patients with recurrent infections. Although Intravenous Ig provides improvement in these patients, early diagnosis is the key to preventing significant morbidity and mortality and improving prognosis. Furthermore, early identification of complications can reduce the disease burden considerably.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
| References|| |
Di Renzo M, Pasqui AL, Auteri A. Common variable immunodeficiency: A review. Clin Exp Med 2004;3:211-7.
Cunningham-Rundles C, Bodian C. Common variable immunodeficiency: Clinical and immunological features of 248 patients. Clin Immunol 1999;92:34-48.
Onbaşi K, Günşar F, Sin AZ, Ardeniz O, Kokuludağ A, Sebik F. Common variable immunodeficiency (CVID) presenting with malabsorption due to giardiasis. Turk J Gastroenterol 2005;16:111-3.
Córdova Guevara H, Guarner Aguilar L. Effective treatment of common variable immunodeficiency associated diarrhea. Rev Esp Enferm Dig 2009;101:215-9.
Park MA, Li JT, Hagan JB, Maddox DE, Abraham RS. Common variable immunodeficiency: A new look at an old disease. Lancet 2008;372:489-502.
Chapel H, Lucas M, Lee M, Bjorkander J, Webster D, Grimbacher B, et al
, Hammarstrom L. Common variable immunodeficiency disorders: division into distinct clinical phenotypes. Blood. 2008;112:277-86.
Kainulainen L, Nikoskelainen J, Vuorinen T, Tevola K, Liippo K, Ruuskanen O. Viruses and bacteria in bronchial samples from patients with primary hypogammaglobulinemia. Am J Respir Crit Care Med 1999;159:1199-204.
de Gracia J, Vendrell M, Alvarez A, Pallisa E, Rodrigo MJ, de la Rosa D, et al.
Immunoglobulin therapy to control lung damage with common variable immunodeficiency. Int Immunopharmacol 2004;4:745-53.
Elenitoba-Johnson KS, Jaffe ES. Lymphoproliferative disorders associated with congenital immunodeficiencies. Semin Diagn Pathol 1997;14:35-47.
Gompels MM, Hodges E, Lock RJ, Angus B, White H, Larkin A, et al.
Lymphoproliferative disease in antibody deficiency: A multi-centre study. Clin Exp Immunol 2003;134:314-20.
[Figure 1], [Figure 2], [Figure 3], [Figure 4]