Primary immune deficiencies (PID), or more recently, inborn errors of immunity (IEI), resulting from genetic defects of the immune system may present with increased susceptibility to infections, persistent inflammation, and autoimmunity. With recent introduction of next generation sequencing, the number of IEIs increases rapidly, reaching to 484 in 2022. Hematopoietic stem cell transplantation (HSCT) has been used over decades as a mainstay of specific treatment modality, while gene therapy and pharmacologic approach have been attempted with promising results in some PID in recent years. The survival following allogeneic HSCT for PID is now generally ＞80%. The indication and timing of transplant must be individualized not only on the basis of the specific PID but also on the characteristics of the individual patient. For the successful transplant outcome, the choice of donor and the optimal pretransplant conditioning regimen is important. This article will discuss current status and recommendations from specialists in HSCT for some representative PID, including severe combined immunodeficiency (SCID), CD40 ligand or CD40 deficiency, Wiskott-Aldrich syndrome, hemophagocytic lymphohistiocytosis, and chronic granulomatous disease, along with our personal experience of PID treatment in Korea.

BACKGROUND: Postherpetic neuralgia (PHN) is usually managed pharmacologically. It is not uncommon for patients with chronic kidney disease (CKD) to suffer from PHN. It is difficult to prescribe a sufficient dose of anticonvulsants for intractable pain because of the decreased glomerular filtration rate. If the neural blockade and pulsed radiofrequency ablation provide only short-term amelioration of pain, spinal cord stimulation (SCS) with a low level of evidence may be used only as a last resort. This study was done to evaluate the efficacy of spinal cord stimulation in the treatment of PHN in patients with CKD. METHODS: PHN patients with CKD who needed hemo-dialysis who received insufficient relief of pain over a VAS of 8 regardless of the neuropathic medications were eligible for SCS trial. The follow-up period was at least 2 years after permanent implantation. RESULTS: Eleven patients received percutaneous SCS test trial from Jan 2003 to Dec 2007. Four patients had successfully received a permanent SCS implant with their pain being tolerable at a VAS score of less than 3 along with small doses of neuropathic medications. CONCLUSIONS: SCS was helpful in managing tolerable pain levels in some PHN patients with CKD along with tolerable neuropathic medications for over 2 years.
Anticonvulsants ; Electric Stimulation Therapy ; Follow-Up Studies ; Glomerular Filtration Rate ; Health Resorts ; Humans ; Kidney ; Kidney Diseases ; Neuralgia, Postherpetic ; Pain, Intractable ; Renal Insufficiency, Chronic ; Spinal Cord ; Spinal Cord Stimulation

PURPOSE: To report five cases with management of macular folds by submacluar BSS injection and partial fluid-gas exchange. METHODS: This prospective study report 5 patients (5 eyes). Between December 1999 and October 2002, 5 patients with macular folds underwent submacular BSS injection and partial fluid-gas exchange. We analysed the preoperative and postoperative best corrected visual acuity, color fundus photography, FAG and Amsler-Grid test. RESULTS: Four cases developed macular folds postoperatively and one case was due to secondary macular folds;complicated with fibrovascular traction by proliferative diabetic retinopathy. The surgery was anatomically successful in all 5 cases. Visual acuity increased two line or more in 4 cases. Subjective metamorphopsia decreased in all 5 patients. CONCLUSIONS: It is thoughted that submacluar BSS injection and partial fluid-gas exchange can be new and effective method in selective cases of macular folds.
Diabetic Retinopathy ; Humans ; Photography ; Prospective Studies ; Traction ; Vision Disorders ; Visual Acuity

We report a case of calcific tendinopathy of the gluteus medius initially misdiagnosed as a lumbar herniated intervertebral disc. It was successfully treated with barbotage under ultrasonographic guidance finally. A 56-year-old woman was referred to interventional pain clinic for right hip pain due to an L5-S1 disc herniation. Serial L5 and S1 spinal nerve root blocks and epidural steroid injections were administered. However, pain relief was sustained only for a very short period. Plain radiography of the right hip revealed a solid calcific nodule at adjacent to the insertion site of the gluteus medius tendon. Physical modalities and extracorporeal shock wave therapy failed to improve the pain. Therefore, we attempted ultrasound-guided barbotage of the calcification. Barbotage was performed twice serially and her pain was considerably improved. At 6-month follow-up, the calcification was completely resolved.
Female ; Follow-Up Studies ; Hip ; Humans ; Intervertebral Disc ; Middle Aged ; Pain Clinics ; Radiography ; Shock ; Spinal Nerve Roots ; Tendinopathy* ; Tendons

Two cases of abnormalities of the left ventricular wall(left ventricular aneurysm or diverticulum) are presented. A saccular deformity of the left ventricle may be and aneurysm or a diverticulum. In one case, the defect seems to be subcalvular aneurysm(or fibrous diverticulum) or aneurysm of the membranous ventricular septum; this lesion seems to be a natural consequence of spontaneous closure of a defect of the membranous septum. The other case, it seems that the defect is ventricular aneurysm with syndrome of myocardial infarction and normal coronary arteries, or double or accessory chambered left ventricle. The thromboembolic phenomenon was noted on a left frontoparietal lobe of brain. Both cases have the diagnosis supported by cardiac catheterization and angiography. The clinical, angiographic and pathologic characteristic of diverticulum and aneurysm of the heart are reviewed, and an attempt is made to clarify the concept of aneurysm and diverticulum of the heart.
Aneurysm* ; Angiography ; Brain ; Cardiac Catheterization ; Cardiac Catheters ; Congenital Abnormalities ; Coronary Vessels ; Diagnosis ; Diverticulum* ; Heart ; Heart Ventricles* ; Myocardial Infarction ; Ventricular Septum

PURPOSE: To report the results of nonvitrectomized peeling surgery in patients who have idiopathic epiretinal membrane(ERM). METHODS: This prospective, nonrandomized study covered 4 cases. From June 1999 through January 2000, 4 patients with idiopathic ERM underwent unilateral nonvitrectomizing peeling surgery. Two sclerotomy sites were made. The membrane was separated from the surface of the retina with endoilluminator and pick. It was removed from the eye in all cases with intraocular forceps. RESULTS: Postoperative average follow-up period is 14 months(12 to 21 months). Preoperative subjective symptoms were decreased vision and metamorphopsia. Preoperative visual acuity(0.4 to 0.6) was improved(0.7 to 0.9). Refractive changes did not occur. Postoperatively, metamorphopsia disappeared in 3 eyes. There were no developments of cataract during postoperative follow-up periods. No serious complications were noted. CONCLUSIONS: Although interpretation of the results of this study is limited due to its small size and short follow-up period, nonvitrectomized ERM peeling surgery appears to be safe and effective in selective patients with idiopathic ERM.
Cataract ; Epiretinal Membrane* ; Follow-Up Studies ; Humans ; Membranes ; Prospective Studies ; Retina ; Surgical Instruments ; Vision Disorders

To identify the central innervating the mammary nerve, viral retrograde transneuronal labelling methods were employed. Pseudorabies virus 6 microliter was injected into the mammary nerve of adult female Sprague-Dawley rats. After 4 days of survival, the animals were perfused with 4% paraformaldehyde-lysine periodate and their brains were processed for immunohistochemistry and double immunofluorescent staining of Pseudorabies virus or oxytocin using polyclonal antibodies. Several nuclei in brain were retrogradely labelled with Pesudorabies virus.Only a few magnocellular neurons of the paraventricular nucleus throughout whole brain showed double immunoreactivity to Pseudorabies virus and oxytocin. Approximately 11 percent of the oxytocinergic cells of the paraventricular nucleus,especially in three subnuclei[dorsomedial cap, lateral magnocelluar part and ventral part] showed double positive reaction to both Pseudorabies virus and oxytocin. These data demonstrate that some CNS cells projecting to the mammary nerve contained oxytocin and it may acts as a neurotransmitter in this pathway and a hormone targeting milk production and secretion.
Adult ; Animals ; Antibodies ; Brain ; Female ; Herpesvirus 1, Suid ; Humans ; Immunohistochemistry ; Milk ; Neurons ; Neurotransmitter Agents ; Oxytocin ; Paraventricular Hypothalamic Nucleus ; Pseudorabies ; Rats* ; Rats, Sprague-Dawley

Objective: An association between increased erythrocyte mean corpuscular volume (MCV) and treatment response in patients with inflammatory arthritis receiving methotrexate (MTX) has been reported. We investigated the frequency of red blood cell (RBC) macrocytosis and its clinical implications regarding the initiation of biological or targeted synthetic disease-modifying antirheumatic drugs (b/tsDMARDs) in patients starting MTX for rheumatoid arthritis (RA). Methods: RBC macrocytosis (MCV >100 fL) and clinical characteristics were retrospectively examined in 1,156 patients starting MTX for RA. Multivariable logistic regression analyses were performed to identify the independent predictors of RBC macrocytosis. The initiation of b/tsDMARDs was assessed using a multivariable Cox proportional hazards regression model. Results: RBC macrocytosis was observed in 21.6% of RA patients over 35 [8, 89] months following MTX initiation and was persistent in 63.6% of the patients during MTX treatment. Anemia coexisted in only 20.0% of the patients with RBC macrocytosis.The occurrence of RBC macrocytosis was independently associated with age, MTX dose, and concomitant use of sulfasalazine or leflunomide (all p<0.001). A higher dose of MTX and double- or triple-DMARDs therapy were more frequently used in the group with RBC macrocytosis than in the group with normal MCV. Patients experiencing RBC macrocytosis were more likely to use b/ tsDMARDs (hazard ratio: 1.45 [95% confidence interval: 1.13, 1.87], p=0.003). Conclusion RBC macrocytosis was possibly associated with the use of b/tsDMARD and could be a supplementary marker for assessing MTX resistance.

Background: Human herpesvirus 6 (HHV-6) encephalitis is a rare but serious complication of allogeneic hematopoietic stem cell transplantation (HSCT). This study investigated the incidence, clinical features, and long-term neurological sequelae of HHV-6 encephalitis in pediatric and adolescent HSCT recipients. Methods: We retrospectively reviewed 92 patients who were younger than 20 years of age at the time of undergoing allogeneic HSCT between January 2015 and December 2024. HHV-6 encephalitis was diagnosed based on neurological symptoms and the detection of HHV-6 DNA in cerebrospinal fluid using multiplex polymerase chain reaction. Patients with HHV-6 encephalitis were followed for a median of six years (range, 4.5-8.5 years) to assess long-term neurological outcomes. Results: Three patients (3.2%) developed HHV-6 encephalitis between 15 and 26 days post-transplantation, coinciding with neutrophil engraftment. Clinical presentation included fever, seizures, altered consciousness, and short-term memory loss.Neuroimaging revealed high signal intensity lesions in the limbic system. Despite prompt antiviral therapy with foscarnet and initial viral clearance, all patients developed significant long-term neurological sequelae, including persistent cognitive impairment, epilepsy (two with refractory seizures), and memory disturbances. One patient continues to require assistance with activities of daily living, while two others face challenges reintegrating into school and society. Conclusion HHV-6 encephalitis following allogeneic HSCT in pediatric and adolescent patients can lead to severe and lasting neurological impairment, despite timely antiviral therapy. These long-term sequelae substantially affect quality of life and impose ongoing healthcare and societal burdens. Multidisciplinary long-term care is essential, and further research is warranted to improve prevention and treatment strategies.

Background: Human herpesvirus 6 (HHV-6) encephalitis is a rare but serious complication of allogeneic hematopoietic stem cell transplantation (HSCT). This study investigated the incidence, clinical features, and long-term neurological sequelae of HHV-6 encephalitis in pediatric and adolescent HSCT recipients. Methods: We retrospectively reviewed 92 patients who were younger than 20 years of age at the time of undergoing allogeneic HSCT between January 2015 and December 2024. HHV-6 encephalitis was diagnosed based on neurological symptoms and the detection of HHV-6 DNA in cerebrospinal fluid using multiplex polymerase chain reaction. Patients with HHV-6 encephalitis were followed for a median of six years (range, 4.5-8.5 years) to assess long-term neurological outcomes. Results: Three patients (3.2%) developed HHV-6 encephalitis between 15 and 26 days post-transplantation, coinciding with neutrophil engraftment. Clinical presentation included fever, seizures, altered consciousness, and short-term memory loss.Neuroimaging revealed high signal intensity lesions in the limbic system. Despite prompt antiviral therapy with foscarnet and initial viral clearance, all patients developed significant long-term neurological sequelae, including persistent cognitive impairment, epilepsy (two with refractory seizures), and memory disturbances. One patient continues to require assistance with activities of daily living, while two others face challenges reintegrating into school and society. Conclusion HHV-6 encephalitis following allogeneic HSCT in pediatric and adolescent patients can lead to severe and lasting neurological impairment, despite timely antiviral therapy. These long-term sequelae substantially affect quality of life and impose ongoing healthcare and societal burdens. Multidisciplinary long-term care is essential, and further research is warranted to improve prevention and treatment strategies.