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Journal Article
Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 05/2014, Volume 133, Issue 5, p. 1458
  Humoral immunity was characterized by chronically elevated serum IgE (maximum, 9856 IU/mL; reference range, <200 IU/mL) with normal serum IgG, IgA, and IgM... 
Flow cytometry | Phosphorylation | Disease | Families & family life | Gene expression | Proteins | Studies | Ostomy | Lymphocytes | Bone density | Mutation | Age | Immune system | Crystal structure
Journal Article
Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 08/2014, Volume 134, Issue 2, p. 276
  Next-generation DNA sequencing has accelerated the genetic characterization of many human primary immunodeficiency diseases (PIDs). These discoveries can be... 
Genes | Mutation | Kinases | Immune system
Journal Article
Human Genetics, ISSN 0340-6717, 2016, Volume 135, Issue 5, pp. 569 - 586
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2014, Volume 134, Issue 2, pp. 276 - 284
Next-generation DNA sequencing has accelerated the genetic characterization of many human primary immunodeficiency diseases (PIDs). These discoveries can be... 
Allergy and Immunology | nuclear factor κB | next-generation sequencing | CARMA1 | primary immunodeficiency diseases | CARD11-BCL10-MALT1 signalosome complex | paracaspase | congenital B-cell lymphocytosis | combined immunodeficiency | nuclear factor kappa B | IMMUNE-DEFICIENCY | T-CELL | BCL10 | IMMUNOLOGY | CLEAVAGE | MALT LYMPHOMA | JNK ACTIVATION | ALLERGY | ECTODERMAL DYSPLASIA | CARD11 MUTATIONS | NF-KAPPA-B | Immunologic Deficiency Syndromes - pathology | Caspases - immunology | Humans | NF-kappa B - immunology | Neoplasm Proteins - immunology | CARD Signaling Adaptor Proteins - genetics | Adaptor Proteins, Signal Transducing - immunology | Germ-Line Mutation | B-Lymphocytes - pathology | Immunologic Deficiency Syndromes - diagnosis | Immunologic Deficiency Syndromes - immunology | Neoplasm Proteins - genetics | CARD Signaling Adaptor Proteins - immunology | Guanylate Cyclase - immunology | Signal Transduction | Caspases - genetics | Gene Expression Regulation | Receptors, Antigen, B-Cell - immunology | B-Lymphocytes - immunology | NF-kappa B - genetics | B-Cell CLL-Lymphoma 10 Protein | Adaptor Proteins, Signal Transducing - genetics | Immunologic Deficiency Syndromes - genetics | Guanylate Cyclase - genetics | Receptors, Antigen, B-Cell - genetics | High-Throughput Nucleotide Sequencing | Mucosa-Associated Lymphoid Tissue Lymphoma Translocation 1 Protein | Lymphomas | Immunodeficiency | Primary immunodeficiency diseases | Congenital B cell lymphocytosis | NF-κB | Combined immunodeficiency | CARD11–BCL10–MALT1 (CBM) signalosome complex | Paracaspase | Next generation sequencing
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 07/2003, Volume 12, Issue 13, pp. 1579 - 1589
Journal Article
Human Mutation, ISSN 1059-7794, 03/2016, Volume 37, Issue 3, pp. 301 - 307
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 01/2020, Volume 182, Issue 1, pp. 162 - 168
Megalencephaly‐capillary malformation syndrome (MCAP) is a brain overgrowth disorder characterized by cortical malformations (specifically polymicrogyria),... 
megalencephaly‐capillary malformation syndrome | PIK3CA | growth hormone deficiency | hypoglycemia
Journal Article
Journal Article