- Clinical and molecular features of X-linked hyper IgM syndrome - An experience from North India. [Journal Article]
- CIClin Immunol 2018 Jul 25; 195:59-66
- X-linked hyper IgM Syndrome (XLHIGM), the most frequent form of the Hyper IgM syndromes is a primary immune deficiency resulting from a mutation in the CD40 ligand gene (CD40LG). We analyzed the clin...
X-linked hyper IgM Syndrome (XLHIGM), the most frequent form of the Hyper IgM syndromes is a primary immune deficiency resulting from a mutation in the CD40 ligand gene (CD40LG). We analyzed the clinical and laboratory features of ten patients with XLHIGM, who were diagnosed at a tertiary care hospital in North India. Most common infections were sinopulmonary infections (80%) and diarrhea (50%). Sclerosing cholangitis and necrotising fasciitis were noted in one patient each. Three novel mutations in CD40LG (c.429_429 delA, p. G144DfsX5; c.500 G > A, p.G167E and c.156 G > C, p.K52 N) were detected. In addition, we found one missense mutation, two splice site mutations and two large deletions, which have been previously reported. Four (4) patients had expired at the time of analysis. We report the first series of XLHIGM from North India where we have documented unique features such as pulmonary alveolar proteinosis and infections with Mycobacterium sp.
- Prevention of infectious diseases in patients with Good syndrome. [Journal Article]
- COCurr Opin Infect Dis 2018 Jun 06
- CONCLUSIONS: Immunological deficits and infectious complications in Good syndrome have been described for over 60 years. Further research is needed to elucidate its exact pathogenesis and define the mechanistic relationship between thymoma and hypogammaglobulinemia. However, tailored prophylactic strategies can be recommended for patients with Good syndrome.
- A Case of Ataxia-telangiectasia Presented With Hemophagocytic Syndrome. [Journal Article]
- JPJ Pediatr Hematol Oncol 2018 Apr 03
- Ataxia-telangiectasia (A-T) is a multisystem disease caused by a genetic defect located on the long arm of chromosome 11 (11p22-23). The gene defect results in the loss of A-T-mutated protein, subseq...
Ataxia-telangiectasia (A-T) is a multisystem disease caused by a genetic defect located on the long arm of chromosome 11 (11p22-23). The gene defect results in the loss of A-T-mutated protein, subsequently leading to unrepaired DNA fractures and defects in the signal transduction pathway. As a result, characteristic findings arise, including recurrent sinopulmonary infections, hypersensitivity against ionized radiation with the tendency to develop cancer related to progressive cerebellar ataxia, pathognomonic oculocutaneous telangiectasias, varying degrees of humoral and cellular immunodeficiency, and infertility. This case report presents a 3-year-old male patient with A-T who developed hemophagocytic syndrome. To the best of our knowledge, no such case has been previously reported.
- Pulmonary Artery Pseudoaneurysm in Hyper-IgE Syndrome: Rare Complication With Successful Endovascular Management. [Journal Article]
- VEVasc Endovascular Surg 2018; 52(5):375-377
- Hyper-IgE syndrome also known as Job syndrome is characterized by elevation of circulating immunoglobulin (IgE) levels and is usually associated with recurrent bacterial infections of the skin and si...
Hyper-IgE syndrome also known as Job syndrome is characterized by elevation of circulating immunoglobulin (IgE) levels and is usually associated with recurrent bacterial infections of the skin and sinopulmonary tract. Though bacterial pulmonary abscess and pneumatocele formation have been described, pulmonary artery pseudoaneurysm in Job syndrome has not been reported in literature. Our report describes a case of large pulmonary artery pseudoaneurysm in a child with Job syndrome, who presented with massive hemoptysis. Emergent endovascular management was performed with percutaneous coil occlusion of the feeding artery.
- Epstein-Barr Virus Susceptibility in Activated PI3Kδ Syndrome (APDS) Immunodeficiency. [Review]
- FIFront Immunol 2017; 8:2005
- Activated PI3Kδ Syndrome (APDS) is an inherited immune disorder caused by heterozygous, gain-of-function mutations in the genes encoding the phosphoinositide 3-kinase delta (PI3Kδ) subunits p110δ or ...
Activated PI3Kδ Syndrome (APDS) is an inherited immune disorder caused by heterozygous, gain-of-function mutations in the genes encoding the phosphoinositide 3-kinase delta (PI3Kδ) subunits p110δ or p85δ. This recently described primary immunodeficiency disease (PID) is characterized by recurrent sinopulmonary infections, lymphoproliferation, and susceptibility to herpesviruses, with Epstein-Barr virus (EBV) infection being most notable. A broad range of PIDs having disparate, molecularly defined genetic etiology can cause susceptibility to EBV, lymphoproliferative disease, and lymphoma. Historically, PID patients with loss-of-function mutations causing defective cell-mediated cytotoxicity or antigen receptor signaling were found to be highly susceptible to pathological EBV infection. By contrast, the gain of function in PI3K signaling observed in APDS patients paradoxically renders these patients susceptible to EBV, though the underlying mechanisms are incompletely understood. At a cellular level, APDS patients exhibit deranged B lymphocyte development and defects in class switch recombination, which generally lead to defective immunoglobulin production. Moreover, APDS patients also demonstrate an abnormal skewing of T cells toward terminal effectors with short telomeres and senescence markers. Here, we review APDS with a particular focus on how the altered lymphocyte biology in these patients may confer EBV susceptibility.
- Mutations in PI3K110δ cause impaired natural killer cell function partially rescued by rapamycin treatment. [Journal Article]
- JAJ Allergy Clin Immunol 2018 Jan 10
- CONCLUSIONS: We describe novel NK cell functional deficiency caused by PI3K110δ mutation, which is a likely contributor to the severe viremia observed in these patients. Rapamycin treatment partially restores NK cell function, providing a further rationale for its use in patients with this disease.
- Kartagener's syndrome: a case report. [Journal Article]
- JMJ Med Case Rep 2018 Jan 10; 12(1):5
- CONCLUSIONS: Patients with Kartagener's syndrome exist in Ethiopia as cases of chronic recurrent sinopulmonary infections. As there is no easy, reliable non-invasive diagnostic test for Kartagener's syndrome and the correct diagnosis is often delayed by years, it may cause chronic respiratory problems with reduced quality of life. Genetic counseling and fertility issues should be addressed once Kartagener's syndrome is diagnosed.
- [Cystic fibrosis in adults]. [Review]
- VLVnitr Lek Winter 2018; 63(11):834-842
- Cystic fibrosis (CF) is an inherited disease caused by mutations in the transmembrane conductance regulator (CFTR) gene. The disease leads to dysfunction of the exocrine glands with high concentratio...
Cystic fibrosis (CF) is an inherited disease caused by mutations in the transmembrane conductance regulator (CFTR) gene. The disease leads to dysfunction of the exocrine glands with high concentration of chloride in the sweat and formation of abnormally viscous mucus in the respiratory, digestive and reproductive tract. Chronic sinopulmonary disease, exocrine pancreatic insufficiency, liver disease, intestinal obstruction, impaired nutritional status, salt loss syndrome and male infertility dominates in the clinical presentation. The examination of sweat chloride concentration and mutations in the CFTR gene is used in CF diagnostics for detection of CFTR protein dysfunction. The treatment comprises especially respiratory physiotherapy with mucolytics inhalations, aggressive antibiotic therapy and high-calorie diet together with adequate pancreatic enzymes substitution. The prevention of airway infection with resistant bacterial pathogens, particularly Pseudomonas aeruginosa, is a fundamental measure. Significant recent progress include the use of newborn screening of CF and drugs targeted to individual CFTR gene mutations in the clinical practise. The prognosis of patients has improved due to using of modern therapeutic methods in CF treatment centres. Children born at present time have survival probability 40-50 years.Key words: adults - cystic fibrosis - diagnostics - therapy.
- Prospective investigation of FOXP1 syndrome. [Journal Article]
- MAMol Autism 2017; 8:57
- CONCLUSIONS: This study identifies novel FOXP1 mutations associated with FOXP1 syndrome, identifies recurrent mutations, and demonstrates significant clustering of missense mutations in the DNA-binding domain. Clinical findings confirm the role FOXP1 plays in development across multiple domains of functioning. The genetic findings can be incorporated into clinical genetics practice to improve accurate genetic diagnosis of FOXP1 syndrome and the clinical findings can inform monitoring and treatment of individuals with FOXP1 syndrome.
New Search Next
- GeneReviews® [BOOK]
- BOOKUniversity of Washington, Seattle: Seattle (WA)
- Poikiloderma with neutropenia (PN) is characterized by an inflammatory eczematous rash (ages 6-12 months) followed by post-inflammatory poikiloderma (age >2 years) and chronic noncyclic neutropenia t...
Poikiloderma with neutropenia (PN) is characterized by an inflammatory eczematous rash (ages 6-12 months) followed by post-inflammatory poikiloderma (age >2 years) and chronic noncyclic neutropenia typically associated with recurrent sinopulmonary infections in the first two years of life and (often) bronchiectasis. There is increased risk for myelodysplastic syndrome and, rarely, acute myelogenous leukemia. Other ectodermal findings include nail dystrophy and palmar/plantar hyperkeratosis. Most affected individuals also have reactive airway disease and some have short stature, hypogonadotropic hypogonadism, midfacial retrusion, calcinosis cutis, and non-healing skin ulcers.