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A monthold boy was admitted with dyspnea, mild fever, tachypnea, and chest retraction.Oral intake had been poor for some time, and the patient had failed to thrive.His older brother was healthy, and his family history was unremarkable.The patient was treated with intravenous trimethoprim sulfamethoxazole, methylprednisolone, and immunoglobulin.Peripheral blood was collected from the patient and his family members. The reads generated were mapped aga instUCSC hg us ing a mapp ing program. The PCR duplica tes were removed using the PICARD tool, and singlenucleotide polymorphisms and insertionsdeletions were detected using   SAMTOOLS. The patients expression of RNA in JAK was markedly lower than that of his older brother, the healthy control.The HLA types of the patient and his older brother were not identical.HSCT using umbil icalco rdblood was perfo rmed based on reduced intensity conditioning with fludarabine and melphalan when the patient was months of age.Prophylaxis of graftversushost disease was administered using ciclosporin and mycophenolate mofetil.The variable number of tandem repea ts from DNA ob ta ined from CD T cells showed complete donor chimerism, and lymphocyte subset results were improved after HSCT. However, the patient experienced corticosteroidrefractory, grade IV acute GVHD, which was treated with infliximab and methotrexate.The previous RSV infection was reactivated following immunosuppressive therapy, and the patient died at months of age.While mutations of thegchain of the interleukin receptor are the mostcommon cause of SCID, mutations in the associated downstream signalling enzyme JAK also result in TBNK SCID. The forms of SCID are associated with similar phenotypes, which include recurrent or atypical severe respiratory infections, intractable diarrhea, and failure to thrive.Whole exome sequencing is not a universally accepted method for diagnosis of SCID. Transplantation outcomes for severe combined immunodeficiency. Unrelated cord blood transplantation for severe combined immunodeficiency and other primary immunodeficiencies.TREC based newborn screening for severe combined immunodeficiency disease: a systematic review.When other diagnostic methods are not available, we recommend using whole exome sequencing to test for PID in patients with atypical infections and failure to thrive as early as possible.Janus kinase deficiency: clinical, immunologic, and molecular analyses of patients and outcomes of stem cell transplantation.Unexpected and variable phenotypes in a family with JAK deficiency.The reduction in factors V and VIII and fibrinogen indicated a concomitant thrombotic process.The occurrence of thromboembolic events leading to acute coronary syndrome or ce reb ralischem icst roke has been described during hymenoptera venominduced anaphylaxis and in patients with no other risk for thromboembolism. We report a case of pulmonary embolism following ceftriaxoneinduced anaphylaxis.A yearold man with clinical signs of right saphenous vein thrombophlebitis and fever had been prescribed intramuscular ceftriaxone by his attending physician.He had no known prothrombotic risk factors for PE or deep vein thrombosis such as <a href="http://www.targetmol.com/compound/Cholic-Acid">Targetmol's Cholic Acid</a> personal or famil iarhis tory of venous thromboembolism, active malignancy, recent surgery or trauma, immobilization, inherited thrombophilia, obesity, and cardiac andor respiratory failure.Thirty minutes following the second injection of g of ceftriaxone, he developed general itching, dizziness, abdominal pain, diarrhea, tachypnea, and chest pain.Two hours later, he was taken to the emergency department of the local hospital, where he was treated with intravenous chlorphenamine mg and betamethasone mg.

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