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ORVOSI HETILAP, ISSN 0030-6002, 12/2018, Volume 159, Issue 49, pp. 2095 - 2112
Next generation sequencing methods represent the latest era of molecular genetic diagnostics. After a general introduction on primary immunodeficiencies, the... 
molecular genetics | DIAGNOSIS | IMMUNITY | EXOME | MEDICINE, GENERAL & INTERNAL | DISEASES | SEQUENCE VARIATION | next generation sequencing | primary immunodeficiency | MUTATIONS | INBORN-ERRORS | FAMILY
Journal Article
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 01/2007, Volume 44, Issue 1, pp. 16 - 23
Background: About 2% of childhood episodes of invasive pneumococcal disease (IPD) are recurrent, and most remain unexplained. Objective: To report two cases of... 
RECEPTOR-ASSOCIATED KINASE-4 | ESSENTIAL MODULATOR MUTATION | C2 DEFICIENCY | STREPTOCOCCUS-PNEUMONIAE | INHERITED DISORDERS | BACTERIAL-INFECTIONS | ANHIDROTIC ECTODERMAL DYSPLASIA | GENETICS & HEREDITY | CONGENITAL ASPLENIA | IMMUNE-DEFICIENCY | SICKLE-CELL-DISEASE | Pneumococcal Infections - drug therapy | Interleukin-1 Receptor-Associated Kinases - metabolism | Recurrence | Interleukin-1 Receptor-Associated Kinases - genetics | Exons | Humans | NF-kappa B - immunology | Child, Preschool | Male | Streptococcus pneumoniae - immunology | Anti-Bacterial Agents - therapeutic use | Pneumococcal Infections - immunology | Streptococcus pneumoniae - chemistry | I-kappa B Kinase - metabolism | Pneumococcal Infections - genetics | Interleukin-1 - immunology | Polymerase Chain Reaction | Child | Signal Transduction | Introns | Pneumococcal Infections - pathology | I-kappa B Kinase - genetics | Ceftriaxone - therapeutic use | Antibody Formation | Immunologic Deficiency Syndromes - genetics | Pneumococcal Vaccines - immunology | DNA, Complementary | Genetic aspects | Children | Research | Gene mutations | Health aspects | Pneumococcal infections | Carbohydrates | Pneumonia | Immunoglobulins | Congenital diseases | Vaccines | Patients | Defects | Streptococcus infections | Genotype & phenotype | Infectious diseases | Immunology | Human immunodeficiency virus--HIV | Meningitis | Mutation | Original
Journal Article
Orvosi Hetilap, ISSN 0030-6002, 12/2018, Volume 159, Issue 49, pp. 2095 - 2112
Journal Article
ORVOSI HETILAP, ISSN 0030-6002, 06/2018, Volume 159, Issue 23, pp. 948 - 956
Severe combined immunodeficiency is the first immune deficiency disorder which was included in the newborn screening program in the United States in 2010. In... 
POPULATION | SINGLE | STRATEGY | CELL TRANSPLANTATION | TTC7A | severe combined immunodeficiency | MEDICINE, GENERAL & INTERNAL | ARTEMIS | TREC | MUTATIONS | newborn screening | ADA | HISTORY
Journal Article
Journal Article
Serbian Journal of Management, ISSN 1452-4864, 05/2019, Volume 14, Issue 2
Journal Article
Orvosi Hetilap, ISSN 0030-6002, 12/2018, Volume 159, Issue 49, pp. 2079 - 2086
Journal Article
Clinical Endocrinology, ISSN 0300-0664, 05/2010, Volume 72, Issue 5, pp. 641 - 647
Summary Objective  Autoimmune polyendocrine syndrome type I (APS I) is a rare primary immunodeficiency disorder characterized by chronic mucocutaneous... 
Journal Article
European Journal of Haematology, ISSN 0902-4441, 01/2007, Volume 78, Issue 1, pp. 86 - 88
Journal Article
Molecular Immunology, ISSN 0161-5890, 06/2009, Volume 46, Issue 10, pp. 2140 - 2146
Journal Article
Molecular Immunology, ISSN 0161-5890, 01/2008, Volume 45, Issue 1, pp. 278 - 282
Journal Article
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