Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0021051 (immunodeficiency)
 71,517 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The case of a 10.5-year-old girl, who was diagnosed with a case of thalassemia major at the age of 8 months and had been on regular blood transfusions since then, is related. Donor screening for HIV was started in mid-1988, thus she had received unscreened blood for a number of years. In February 1991, she presented with a dry persistent cough, moderate grade continuous fever, and breathlessness on exertion for over 2 weeks. Chest X-ray showed bilateral infiltrations. She was put on penicillin and chloramphenicol with a provisional diagnosis of bronchopneumonia. In March 1991, she had to be hospitalized for impending respiratory failure. After treatment with intravenous fluids and parenteral antimicrobials, her condition stabilized and she was discharged. In April 1991, she was readmitted because of complaints of difficulty in swallowing and weight loss. Her chest signs had persisted and she had developed oropharyngeal candidiasis with ulcerations. She also had alopecia, a generalized lymphadenopathy, digital clubbing, and bilateral parotid enlargement. Candidiasis responded to vigorous therapy with clotrimazole. Fine needle aspiration of lymph node showed a reactive hyperplasia. HIV antibodies were detected in the serum with ELISA and confirmed by Western blot. Immunologic tests showed evidence of severe immunodeficiency. The Multitest CMI, which simultaneously tests delayed skin hypersensitivity to seven common recall antigens, was totally nonreactive. She was classified as having AIDS according to World Health Organization criteria for children under 13 years of age. The diagnosis of lymphocytic interstitial pneumonitis (LIP) was also made based on the symptoms. Oral prednisolone was given 2 mg/kg/day in 3 divided doses for a month. The cough and dyspnea showed great improvement and the parotid swellings disappeared; lymphadenopathy, clubbing, and alopecia, however, persisted. The child was kept on maintenance therapy of prednisolone and on alternate day co-trimoxazole for prophylaxis against Pneumocystis carinii infection.
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PMID:Acquired immunodeficiency syndrome (AIDS) with lymphocytic interstitial pneumonitis (LIP) in a multi transfused child with thalassemia major. 129 97

Chronic granulomatous disease (CGD) is a primary immunodeficiency disease symptomized by failure to generate superoxide and recurrent bacterial and fungal infections. Allogeneic bone marrow transplantation (BMT) is one of the therapeutic options available. However, it presents considerable risk to the recipient, especially if the patient is already at an advanced stage of disease, after repeated bacterial and fungal infections and organ damage. We present a case report of a 6-year-old child with long-standing CGD, severe clubbing, and jeopardized pulmonary function after multiple bacterial pulmonary infectious episodes, who had failed treatment with sulphamethazole trimethoprim, multiple antibiotic courses, itraconazole, as well as steroid and interferon-y therapy. He underwent allogeneic peripheral blood stem cell transplantation (alloPBSCT) from his HLA-matched MLC non-reactive sister following non-myeloablative conditioning. His ANC did not fall below 0.2 x 10(9)/l, his lowest WBC was 0.6 x 10(9)/l, and his platelets did not fall below 28 x 10(9)/l. He had normal engraftment, with no mucositis or organ toxicity. Neither parenteral nutrition nor platelet infusions were necessary. Partial donor chimerism following alloPBSCT was converted to full donor chimerism and superoxide production reverted to normal after donor lymphocyte infusions (DLI) from his HLA-matched sister. Twenty four months post transplant the patient is well, with stable and durable engraftment, 100% donor chimerism, normal superoxide production, no GVHD, and stabilization of his pulmonary condition. We suggest that alloPBSCT preceded by non-myeloablative conditioning and followed by DLI may constitute a successful mode of therapy for patients suffering from advanced CGD with recurrent infectious episodes resulting in organ dysfunction, enabling them to achieve full donor chimerism and normal superoxide production with minimal risk of transplant-related toxicity and GVHD.
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PMID:Donor lymphocyte infusion post-non-myeloablative allogeneic peripheral blood stem cell transplantation for chronic granulomatous disease. 1045 77

CD8 deficiency is a rare primary immunodeficiency with low or absent peripheral CD8 cells which results from TAP deficiency, Zap 70 deficiency and CD8 alpha gene mutation.We report a 14 year old female who presented with a history of recurrent pneumonia, bronchiectasis, otitis, severe varicella, herpetic lesions of mouth, bilateral uveitis, and cataract formation since the age of 8 years.She had growth failure, a huge spleen and moderate clubbing. In immunologic workup, humoral and phagocytic systems were normal. DTH response to candida, PPD and DT were negative but LTT response to PHA mitogen was normal. HLA typing showed normal class I expression. Flowcytometry of peripheral blood showed CD8: 0 to 2% (absolute count, 0-60 cells/mm3) with increased CD4/CD8 ratio on several occasions.Diagnosis of this patient cannot be HLA class I deficiency (TAP1 or TAP2), because class I expression had been normal. It is possible to be Zap -70 deficiency or CD8 alpha gene mutation. Bilateral uveitis in our patient was a unique presentation which might have resulted because of immune dysregulation in CID.
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PMID:Recurrent infections and bilateral uveitis in a patient with CD8 deficiency. 1730 23

Hyper-immunoglobulin E syndrome is a rare primary immunodeficiency disease characterized by recurrent abscess formation, respiratory tract infections and very high titers of serum IgE associated with peculiar face and skeletal features. We report a seven-year old girl presenting with persistent productive cough and history of chronic eczematoid facial lesions since infancy and two episodes of hospitalizations due to pneumonia and perianal abscess. Additionally, in physical examination finger tip clubbing, laxity of joints and crackles in both lungs were detected. Immunologic work up revealed markedly raised IgE level and eosinophilia. The patient was diagnosed as hyper IgE syndrome based on his clinical and laboratory findings. Chest X-ray revealed multiple large cystic lesions in left lung which were confirmed by spiral CT-scan. Pneumonectomy specimen examination showed cystic adenomatoid malformation, characterized by the presence of various cysts lined by epithelium in different sizes. There are few reports of cystic adenomatoid malformation in children. To our best known, this is the first report of cystic adenomatoid malformation in a child with hyper IgE syndrome. Early diagnosis and surgical therapy are helpful in prevention of repeated infections in these patients.
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PMID:Histopathologic Findings of Pneumatocele in a Patient with Hyper-IgE syndrome, compatible with cystic adenomatoid malformation. 1855 13