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Acta Medica Iranica, ISSN 0044-6025, 01/2019, pp. 811 - 814
CD40 deficiency yield to an autosomal recessive subtype of hyper-immunoglobulin M syndrome (HGIM type 3), presenting with an almost identical clinical picture... 
CD40 | Hyper Immunoglobulin M syndrome | HIGM type 3 | lymphoid hyperplasia
Journal Article
Journal Article
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2015, Volume 136, Issue 2, pp. 476 - 479.e6
  Of note, the commercial NCF1 screen examined mutations only in exon 2, which harbors the 2GT deletion that causes most reported cases of NCF1-related chronic... 
Allergy and Immunology | DEFECTS | MUTATIONS | IMMUNOLOGY | ALLERGY | LYMPHOCYTE | ARTEMIS | Immunologic Deficiency Syndromes - pathology | Alternative Splicing | Exons | Humans | Immunoglobulin A - genetics | Molecular Sequence Data | NADPH Oxidases - immunology | Male | Killer Cells, Natural - pathology | Base Sequence | Killer Cells, Natural - immunology | NADPH Oxidases - genetics | Female | B-Lymphocytes - pathology | T-Lymphocytes - pathology | Immunologic Deficiency Syndromes - diagnosis | Immunologic Deficiency Syndromes - immunology | Nuclear Proteins - genetics | Child | Nuclear Proteins - immunology | B-Lymphocytes - immunology | Immunoglobulin G - genetics | Endonucleases | Immunologic Deficiency Syndromes - genetics | Lymphocyte Count | T-Lymphocytes - immunology | High-Throughput Nucleotide Sequencing | Mutation | Genome, Human | Medical colleges | Care and treatment | Genomics | Immunodeficiency | Genomes | Nucleotide sequencing | DNA sequencing | Flow cytometry | Genetic counseling | Disease | Mutagenesis | Laboratories | Genes | Ligands | Protein expression | Infections | Patients | Index Medicus | Abridged Index Medicus | Next generation sequencing (NGS) | Primary immunodeficiency (PID) | Hyper IgM syndrome (HIGM) | Whole genome sequencing (WGS) | Chronic granulomatous disease (CGD) | Combined immunodeficiency (CID) | Severe combined immunodeficiency (SCID)
Journal Article
Pediatric Infectious Disease Journal, ISSN 0891-3668, 2013, Volume 32, Issue 9, pp. 1010 - 1016
Journal Article
HUMAN MUTATION, ISSN 1059-7794, 12/2006, Volume 27, Issue 12, pp. 1185 - 1191
Journal Article
Journal of Clinical Immunology, ISSN 0271-9142, 2/2012, Volume 32, Issue 1, pp. 70 - 77
Journal Article
Journal Article
2016, ISBN 9780080921525, Volume 5
Maturation of the secondary antibody repertoire is generated by means of immunoglobulin (Ig) class-switch recombination (CSR) and somatic hypermutation (SHM).... 
APDS | CD40L | CSR deficiency | HIGM | PIK3CD | Class-switch recombination | INO80 | PIK3R1 | UNG | Somatic hypermutation | MMR | PMS2 | AID
Book Chapter
Journal Article
Journal Article