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

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

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

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

ERCP may provide more definite diagnosis, preoperative guidance, and endoscopic therapy in many children with known and suspected disorders of the pancreas or biliary tract. To our knowledge, there has been rare case of ERCP in children and no reported case of ERCP performed in inf~int less than 2 years old in Korea. We report a case of KRCP performed in 26 month old girl who was admitted to evaluate jaundice. We diagnosed CBD stones and choledochal cyst, Todani type III containiaig stones by ERCP. After endoscopic sphincterotomy(EST), removal of stones, and endoscopic nasobiliary drainage(END) her bilirubin level normalized about 2 months later.
Biliary Tract ; Bilirubin ; Child ; Child, Preschool ; Cholangiopancreatography, Endoscopic Retrograde* ; Choledochal Cyst* ; Diagnosis ; Female ; Humans ; Infant* ; Jaundice ; Korea ; Pancreas ; Sphincterotomy, Endoscopic*

Background: and Purpose: Many elderly patients are unable to actively stand up by themselves and have contraindications to performing the head-up tilt test (HUTT). We aimed to develop screening algorithms for diagnosing orthostatic hypotension (OH) before performing the HUTT. Methods: This study recruited 663 patients with orthostatic intolerance (78 with and 585 without OH, as confirmed by the HUTT) and compared their clinical characteristics. Univariate and multivariate analyses were performed to investigate potential predictors of an OH diagnosis. Machine-learning algorithms were applied to determine whether the accuracy of OH prediction could be used for screening OH without performing the HUTT. Results: Differences between expiration and inspiration (E-I differences), expiration:inspiration ratios (E:I ratios), and Valsalva ratios were smaller in patients with OH than in those without OH. The univariate analysis showed that increased age and baseline systolic blood pressure (BP) as well as decreased E-I difference, E:I ratio, and Valsalva ratio were correlated with OH. In the multivariate analysis, increased baseline systolic BP and decreased Valsalva ratio were found to be independent predictors of OH. Using those variables as input features, the classification accuracies of the support vector machine, k-nearest neighbors, and random forest methods were 84.4%, 84.4%, and 90.6%, respectively. Conclusions We have identified clinical parameters that are strongly associated with OH. Machine-learning analysis using those parameters was highly accurate in differentiating OH from non-OH patients. These parameters could be useful screening factors for OH in patients who are unable to perform the HUTT.

Although atmospheric carbon dioxide (CO₂) has no apparent direct effect on human health, it does have direct effects on plants. The present study evaluated the influence of increased CO₂ levels on the concentration of allergens from common ragweed pollen by setting up a chamber study to model future air conditions and a field study to evaluate current air conditions. For the chamber study, we established 20 ragweed plants in an open-top chamber under different CO₂ levels (380–400, 500–520, 600–620, and 1,000–1,100 parts per million [ppm]). For the field study, we established ragweed plants in rural (Pocheon, Gyeonggi-do; mean CO₂ 320±54.8 ppm) and urban (Gangnam, Seoul; mean CO₂ 440±78.5 ppm) locations. Seeds of the common ragweed (Ambrosia artemisiifolia) were obtained from Daejin University. The Amb a 1 protein content of pollen extracts was quantified using a double sandwich enzyme-linked immunosorbent assay. In our chamber study, the median concentration of Amb a 1 in pollen increased with increasing in CO₂ concentration (1.88 ng/µg in 380–400 ppm CO₂; 3.14 ng/µg in 500–520 ppm CO₂; 4.44 ng/µg in 600–620 ppm CO₂; and 5.36 ng/µg in 1,000–1,100 ppm CO₂). In our field study, we found no significantly different concentration of Amb a 1 between the pollen extracts at the Pocheon (mean±standard deviation, 1.63±0.3 ng/µg pollen in 320±54.8 ppm CO₂) and the Gangnam (2.04±0.7 ng/µg pollen in CO₂ in 440±78.5 ppm CO₂) locations, although the concentration of Amb a 1 was increased in the Gangnam than in the Pocheon locations. Our results suggest that future increases in CO₂ levels to more than 600 ppm will significantly elevate the Amb a 1 content in common ragweeds, although the current different CO₂ levels do not cause differences in the Amb a 1 content of ragweed pollen.
Allergens ; Ambrosia* ; Carbon Dioxide ; Enzyme-Linked Immunosorbent Assay ; Gyeonggi-do ; Humans ; Pollen ; Rhinitis, Allergic, Seasonal ; Seoul