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Common Variable Immunodeficiency with CD4+ T Lymphocytopenia And 876 Short reports Common variable immunodeficiency with CD4+ T lymphocytopenia and overproduction of soluble J Clin Pathol: first published as 10.1136/jcp.50.10.876 on 1 October 1997. Downloaded from IL-2 receptor associated with Turner's syndrome and dorsal kyphoscoliosis Rabab A Al-Attas, Amjad H S Rahi, El-Fatih E M Ahmed Abstract XO karyotype, short stature, and sexual infan- An unusual combination of common vari- tilism) and autoimmune endocrinopathy is well able immunodeficiency (CVID) and Turn- recognised5; however, CVID has been reported er's syndrome in a Saudi woman aged 20 only once in association with this syndrome.6 years is presented. In addition to pan- We report an unusual association of CVID hypogammaglobulinaemia, the patient with CD4+ T lymphocytopenia, overproduc- had CD4+ T lymphocytopenia; however, tion of soluble IL-2 receptor (sIL-2R), and there was evidence of in vivo activation of skeletal malformation in a patient with Turn- T celis and overproduction of soluble er's syndrome. To the best of our knowledge, interleukin 2 receptor in culture super- this is the first documentation of such an un- nate. Mantoux test was positive, but usual presentation, at least from the Middle lymphoblastic response to non-specific East. mitogen was impaired. Immunogeneti- cally the patient was HLA-DR3 positive and karyotypically she was a mosaic Case report (45XO/46XX) with ring X chromosome A Saudi woman aged 20 years presented with a (46Xr(X)). The presence of severe kypho- history ofrecurrent chest and ear infection, and scoliosis was possibly related to ring X chronic diarrhoea since early childhood, she chromosome. This case highlights the also had sickle cell and a thalassaemia traits, grave consequences ofthe delayed diagno- and primary amenorrhoea. On clinical examin- sis of immunodeficiency and emphasises ation, the patient was found to be of short stat- the nature of CVID. ure with prepubertal appearance (height heterogeneous 1 8 cm, weight 20 kg). There was digital club- (7 Clin Pathol 1997;50:876-879) http://jcp.bmj.com/ bing but no cyanosis. Eyes showed mild Keywords: common variable immunodeficiency; Turn- inflammation; there was no lymphadenopathy. er's syndrome; CD4+ T lymphocytopenia; soluble The patient had marked dorsal kyphoscoliosis interleukin 2 receptor with convexity towards the left side. Chest examination showed partial breast develop- Common variable immunodeficiency (CVID) ment and auscultation revealed crepitation. is a rare disorder with an estimated prevalence on September 30, 2021 by guest. Protected copyright. of 1 per 100 000 population. The hallmark of the disease is hypogammaglobulinaemia affect- ing at least two of the three major serum immunoglobulin isotypes.' Typically patients Department of present with recurrent sinopulmonary infec- Immunology, Regional tions as well as a wide variety of autoimmune Laboratory and Blood and neoplastic disorders. Precise aetiopatho- A Bank, Dammam genesis is unknown, but retroviral infection, B Central Hospital, Ministry of Health, cell anergy, deficiency of several enzymes (such Eastern Province, as 5'-nucleotidase, glutathione, and dipeptidyl Dammam, Saudi peptidase IV), abnormality of T cell subsets, T Arabia cell dysfunction, deficient antigen-TcR cou- RA Al-Attas pling, and abnormal cytokine production (such A H S Rahi as decreased synthesis of interleukin (IL)-2, Department of interferon t, IL-4, IL-5, IL-9, or increased pro- Internal Medicine duction of IL-4, IL-6, and tumour necrosis E-F E M Ahmed factor a) have been implicated.` Recently a subset of CVID with decreased CD4:CD8 Correspondence to: ratio and raised CD8+ suppressor T cells has Dr Al-Attas, Consultant Immunopathologist, been identified'; within this subset there is a Department of Immunology, rare occurrence of CD4+ T lymphocytopenia PO Box 6571, Dammam (< 20% of total lymphocytes) affecting mainly d 31452, Saudi Arabia. the virgin (CD4+, CD45RA+) helper T cells.4 Accepted for publication The association of Turner's syndrome (a sex Figure 1 Lateral view of the cervical spines showing 28 July 1997 chromosomal disorder with female phenotype, kyphosis in the lower region. Short reports 877 Laboratory investigation Routine biochemical profile was normal; sex hormone analysis was not available. Routine J Clin Pathol: first published as 10.1136/jcp.50.10.876 on 1 October 1997. Downloaded from haematological indices were within normal range except for microcytosis and hypochromia because of thalassaemic trait. Haemoglobin electrophoresis showed 66.7% HbAl, 31.9% HbS, and 1.4% HbA2. Tuberculin test Mantoux was positive in 2IU of PPD, the size of induration after 72 hours being 14 mm. Cytogenetic study Buccal smear was negative for sex chromatin and chromosomal analysis showed mixoploidy of 45XO/46XX compatible with mosaic mono- somy X. In addition, chromosomal structural abnormality (ring X chromosome) was noted. Microbiological study Sputum culture revealed growth of Haemo- philus influenzae, and stool examination showed Giardia lamblia and Trichomonas hom- Figure 2 Lateral view of dorsal spines showing kyphosis. inis. ELISA test was negative for human immu- nodeficiency virus (HIV) infection. Immunological study Rate nephelometry showed marked reduction of all three major immunoglobulin classes (IgG 1 12 g/l, IgA 13 g/l, IgM 16 g/l). Serum isohaem- agglutin was severely reduced; as the patient |i was B+, anti-A was detectable only in undiluted serum (normal for age > 1:16). Immunofluo- i: rescence and haemagglutination tests for organ and non-organ specific autoantibodies were negative. http://jcp.bmj.com/ d Lymphocyte subsets-Flow cytometry for B and T lymphocytes and their subsets showed CD3+ T lymphocytes 82% (3040/gl), CD3` CD4+ helper T cells 13% (480/gl), CD3+, CD8+ suppressor/cytotoxic T cells 71% (2630/jl), A.. CD4+:CD8+ ratio 0.2, natural killer cells (CD3-, CD16+, CD56+) 7% (260/jld), CD19+ B on September 30, 2021 by guest. Protected copyright. cell 3% (1 10/pl), and activated T (CD3+, DR+) 21%. Figure 3 Anterioposterior chest radiogram showing In vitro lymphocyte stimulation study distortion of thoracic cage and hilar calcification. Peripheral mononuclear cells were separated on a discontinuous density gradient and Cardiovascular and abdominal examination cultured in microtitre plate suspended in was normal. The patient was partially deaf, RPMI 1640 (106 lymphocytes/ml). Standard mentally slow, and had been able to achieve not techniques were used for blastic transforma- more than primary education. tion using phytohaemagglutin (at three differ- 20 cell INVESTIGATIONS ent concentrations 10, 15, and pl/100 gl Radiology suspension). The transformation index in the Radiography of the spine showed kyphoscolio- patient's sample was 50% of the control at the same Soluble sis involving the lower cervical and upper dor- lymphocytes (tested time). sal leading to distortion of the thoracic IL-2 receptor (sIL-2R) was measured by spine in the cage and crowding of the ribs on the left side. ELISA (Genzyme, California, USA) it was 5900 There were bilateral bronchiectatic changes culture supernate; pg/ml (control < were used). with calcified areas in both hilar regions 100 pg/ml; 106 lymphocytes/ml suggestive of healed tubercular lesions (figs 1-3). HLA study Ultrasonography of the abdomen showed a Class I and class II histocompatibility antigens bulky spleen for stature; the left ovary was nor- were tested by NIH complement dependent mal but the right ovary was not visible, and the microlymphocytotoxicity technique. The pa- uterus was reduced in size. tient was HLA-DR3+ve.' 878 Short reports Audiogram syndrome'2 immunoglobulin concentrations Audiogram showed bilateral conductive hear are usually normal. Our patient was HIV nega- loss, a grommet had been inserted three years tive at least at the time of and, presentation, J Clin Pathol: first published as 10.1136/jcp.50.10.876 on 1 October 1997. Downloaded from previously but was removed because of re- there was no evidence of other viral infection, peated ear infection. generalised sepsis, acute pyelonephritis, or dis- seminated fungal infection or history of immu- TREATMENT nosuppressive therapy. All of these are known On the basis ofcellular and humoral studies the to cause a severe reduction in the CD4+ popu- patient was diagnosed as having CVID; she lation. Increased production of sIL-2R has received intravenous y globulin (300 mg/kg), been previously reported in CVID.'" It is also a co-amoxiclav, and metronidazole. A course of feature of disease activity in rheumatic disor- chest physiotherapy was also given. The patient ders and several other inflammatory diseases, had gained 1.5 kg during her three week stay in and is believed to play an immunomodulatory hospital. role'4; whether this was responsible in part for the cellular immunodeficiency in our patient is Discussion a matter of conjecture. CVID is a heterogenous group of disorders The present patient represents a unique case having in common defective antibody forma- of CVID; although clinical manifestations tion, particularly IgA and IgG subclasses. As a (sinopulmonary infection and diarrhoea) were consequence, many of the affected individuals typical, the combination of immunological are prone to recurrent bacterial infections. In abnormalities such as panhypogammaglobulin- addition, such individuals exhibit increased aemia, slight reduction of B cells (described in susceptibility to autoimmune diseases, malig- about 20% ofCVID cases)," selective CD4+ T nancy, and
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