Leprosy is an infectious diseases caused by Mycobacterium leprae. It is considered to be manifested in person with an impaired. immune system and is divided into two polar forms; the first being tuberculoid leprosy(TL) with nearly norrnal cell-mediated immunity(CMI) and the second heing lepromatous leprosy(LL) with deficient CMI. Adenosine deaminase(ADA) is an enzyme concerned with intermediary purine metabolism, which is known to be deficient in case of immunological dysfunction. To find out if there is any ADA deficiency in leprosy, the ADA activities in the lymphocytes of leprosy patients were compared with those of normal ones. The ADA activities in lymphocytes of normal subjects, TL patients and. LL patients were as follows; ID. 36-I-l. 90 units/10cells, 6. 35+0. 86units/10'cells and 4. 58+0. 52units/IO'cells respectively. The ADA activities in lymphocytes were revealed to be significantly different between normal subjects and LL patients(p<0. 01) and also between normal subjects and TL patients(p<0. 05). The lowered ADA activities in lymphocytes of leprosy patients, particularly in lepromatous leprosy, suggests a similar role in ADA for immunological response as demonstrated in severe combined immunodeficiency diseases.
Adenosine Deaminase* ; Adenosine* ; Communicable Diseases ; Humans ; Immune System ; Leprosy* ; Leprosy, Lepromatous ; Lymphocytes* ; Metabolism ; Mycobacterium leprae ; Severe Combined Immunodeficiency

Severe combined immunodeficiency (SCID) is a life-threatening syndrome of recurrent infections and gastrointestinal alterations due to severe compromise of T cells and B cells. Clinically, most patients present symptoms before the age of 3 months and without intervention SCID usually results in severe infections and death by the age of 2 years. Its association with intestinal anomalies as multiple intestinal atresias (MIA) is rare and worsens the prognosis, resulting lethal. We describe the case of a four year-old boy with SCID-MIA. He presented at birth with meconium peritonitis, multiple ileal atresias and underwent several intestinal resections. A targeted Sanger sequencing revealed a homozygous 4-bp deletion (c.313DeltaTATC; p.Y105fs) in tetratricopeptide repeat domain 7A (TTC7A). He experienced surgical procedures including resection and stricturoplasty. Despite parenteral nutrition-associated liver disease, the patient is surviving at the time of writing the report. Precocious immune system assessment, scrutiny of TTC7A mutations and prompt surgical procedures are crucial in the management.
B-Lymphocytes ; Humans ; Immune System ; Intestinal Atresia* ; Liver Diseases ; Male ; Meconium ; Parturition ; Peritonitis ; Prognosis ; Severe Combined Immunodeficiency* ; T-Lymphocytes ; Writing

No abstract available.
Leukemia, Large Granular Lymphocytic*

In most cases, acute diarrhea in childhood heals spontaneously, but it may become the form of chronic diarrhea in immunodeficient children and then cause weight loss, dehydration, malabsorption and malnutrition. The immunodeficient diseases associated with chronic diarrhea include severe combined immunodeficiency syndrome, common variable immunodeficiency, acquired immunodeficiency syndrome, agammaglobulinemia or selective IgA deficiency. IgA deficiency is the most common primary immunodeficiency. Because many IgA deficient individuals seem to have compensated for their deficiency with increased IgM production and various nonimmunologic factors, the incidence of gastrointestinal involvement is not prominent. Some of those with IgA deficiency and recurrent infections have been found to also have IgG subclass deficiency. IgA deficiency with IgG2 and IgG4 subclass deficiency have high susceptability to infection and chronic diarrhea. IgG subclass deficiency, when present, is more likely to be found in association with a partial IgA deficiency rather than complete IgA deficiency. We report a 3-month-old male with intractable diarrhea accompanied by IgA, IgG2, and IgG4 deficiency.
Acquired Immunodeficiency Syndrome ; Agammaglobulinemia ; Child ; Common Variable Immunodeficiency ; Dehydration ; Diarrhea* ; Humans ; IgA Deficiency ; Immunoglobulin A* ; Immunoglobulin G* ; Immunoglobulin M ; Incidence ; Infant ; Male ; Malnutrition ; Severe Combined Immunodeficiency ; Weight Loss

PURPOSE: To observe sequential changes of acute and subacute hypersensitivity pneumonitis in high resolution CT and to correlate the findings with pulmonary function test and bronchoalveolar lavage. MATERIALS AND METHODS: This study includes 11 patients with pathologically (n=10) and clinically(n=1) proved acute and subacute hypersensitivity pneumonitis. The extent of ground glass attenuation and nodules on high resolution CT scan was correlated with pulmonary function test and bronchoalveolar lavage. We also evaluated serial changes of the lesion in high resolution CT scans. RESULTS: The extent of parenchymal abnormalities on high-resolution CT scans were significantly correlated with diffusing capacity (GGA & DLco:r=0.95, p<0.003, Nodule & DLco:r=-0.94, P<.005) and FEV1 (GGA & FEV1: r=-0.57, p<.05, Nodule & FEV1: r=-0.56, P<.05) on pulmonary function test and relatively correlated with total count of cells (GGA & total count of cells: r=0.86, P<.03, Nodule & total count of cells: r=0.71, p<0. 11) on bronchoalveolar lavage. The order in disappearance of abnormal findings were poorly defined centrilobular nodule, ground glass attenuation, and well defined small centrilobular nodule on sequential CT scans. CONCLUSION: The authors conclude that HRCT is useful for diagnosis and follow up evaluation of the acute and subacute hypersensitivity pneumonitis. Quantitative analysis of extent of disease on HRCT is useful for evaluation of clinical status.
Alveolitis, Extrinsic Allergic* ; Bronchoalveolar Lavage* ; Diagnosis ; Follow-Up Studies ; Glass ; Humans ; Hypersensitivity* ; Respiratory Function Tests* ; Tomography, X-Ray Computed

Jarisch-Herxheimer reaction (JHR) is a relatively common, acute febrile hypersensitivity reaction that follows administration of antibiotic therapy for early syphilis. Sedation and general supportive measures are the mainstay of therapy whilst the JHR follows a self-limited course. In rare cases, fatal JHR can unexpectedly occur in the form of hyperacute endocarditis, an irreversible dysfunction of central nervous system, vision loss, fulminant necrotizing hepatitis or acute respiratory distress syndrome, and require emergency case. We herein present a rare case of JHR complicated by hypersensitivity pneumonitis following administration of penicillin for the treatment of secondary syphilis. The pertinent evaluation for this case could exclude other causes of interstitial lung disease, including drug hypersensitivity or penicillin-induced hypersensitivity pneumonitis.
Alveolitis, Extrinsic Allergic* ; Central Nervous System ; Drug Hypersensitivity ; Emergencies ; Endocarditis ; Hepatitis ; Humans ; Hypersensitivity* ; Lung Diseases, Interstitial ; Penicillins ; Respiratory Distress Syndrome, Adult ; Syphilis*

Humans ; Leukemia, Large Granular Lymphocytic

Humans ; Leukemia, Large Granular Lymphocytic

Background & Objective: Sleep quality in neuromyelitis optica spectrum disorders (NMOSD) were investigated in two recent studies. However, factors affecting sleep quality have not been studied in NMOSD. This study aimed to investigate the prevalence of sleep disorders in Chinese outpatient clinics with NMOSD and its clinical correlates. Methods: We administered Chinese validated self-questionnaires on HRQOL (MSQOL-54), sleep (PSQI), pain (SF-MPQ-2), anxiety (HARS) and depression (HDRS) to 42 patients followed up in our outpatient department. We assessed the relationships between sleep quality with pain, anxiety, depression, gender, age, disability, disease duration, NMO-antibody status and explored the determinants of poor sleep quality. Results: Sixty four percent of NMOSD patients were poor sleepers. Significant correlations were found between duration, disability, pain, anxiety, depression and sleep quality. Disability, depression and the domain of affective descriptors of pain were the three main predictors of poor sleep in NMOSD. Conclusion: This study reveals that poor sleep in NMOSD is common and it decreases physical function of quality of life. It is worthwhile considering exploring adjuvant strategies aimed at controlling pain associated affect, and treatment of depression may help to improve sleep quality in NMOSD.
Neuromyelitis Optica

Neuromyelitis optica (NMO) is a rare disorder in children with variable presentation. We report a 7-year-old boy who presented with bilateral retrobulbar optic neuritis and responded very well to treatment. He was also positive for aquaporin 4 (AQP4) antibodies, which is part of an emerging endophenotype within autoimmune neurological disorders in childhood.
Neuromyelitis Optica