Pathogenic NFKB2 variant in the ankyrin repeat domain (R635X) causes a variable antibody deficiency. (Record no. 29558143)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01842 a2200529 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250518032804.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 202004s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1521-7035 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.clim.2019.03.010 |
| Source of number or code | doi |
| 040 ## - CATALOGING SOURCE | |
| Original cataloging agency | NLM |
| Language of cataloging | eng |
| Transcribing agency | NLM |
| 100 1# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Tuijnenburg, Paul |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20200402 |
| 245 00 - TITLE STATEMENT | |
| Title | Pathogenic NFKB2 variant in the ankyrin repeat domain (R635X) causes a variable antibody deficiency. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Clinical immunology (Orlando, Fla.) |
| Date of publication, distribution, etc. | 06 2019 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 23-27 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adrenal Insufficiency |
| General subdivision | congenital |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Ankyrin Repeat |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | B-Lymphocytes |
| General subdivision | immunology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cells, Cultured |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Common Variable Immunodeficiency |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Ectodermal Dysplasia |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Female |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Humans |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Immunoglobulin Class Switching |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Immunologic Memory |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Immunophenotyping |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Lymphocyte Activation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Male |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | NF-kappa B p52 Subunit |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pedigree |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Receptors, CXCR5 |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | T-Lymphocytes |
| General subdivision | immunology |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lango Allen, Hana |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | de Bree, Godelieve J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Savic, Sinisa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jansen, Machiel H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stockdale, Claire |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Simeoni, Ilenia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ten Berge, Ineke J M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Leeuwen, Ester M M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Thaventhiran, James E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kuijpers, Taco W |
| 773 0# - HOST ITEM ENTRY | |
| Title | Clinical immunology (Orlando, Fla.) |
| Related parts | vol. 203 |
| -- | p. 23-27 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.clim.2019.03.010">https://doi.org/10.1016/j.clim.2019.03.010</a> |
| Public note | Available from publisher's website |
No items available.