U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

UNC13D Deficiency

MedGen UID:
925612
•Concept ID:
C4288080
•
Disease or Syndrome
Synonym: MUNC13-4 Deficiency

Definition

A condition of decreased or absent presence of protein unc-13 homolog D. Deficiency of this protein is associated with familial hemophagocytic lymphohistiocytosis 3. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVUNC13D Deficiency

Professional guidelines

PubMed

Genotype characteristics and immunological indicator evaluation of 311 hemophagocytic lymphohistiocytosis cases in China.
Zhang J, Sun Y, Shi X, Zhang R, Wang Y, Xiao J, Cao J, Gao Z, Wang J, Wu L, Wei W, Wang Z
Orphanet J Rare Dis 2020 May 6;15(1):112. doi: 10.1186/s13023-020-01390-z. PMID: 32375849Free PMC Article
Perforin and CD107a testing is superior to NK cell function testing for screening patients for genetic HLH.
Rubin TS, Zhang K, Gifford C, Lane A, Choo S, Bleesing JJ, Marsh RA
Blood 2017 Jun 1;129(22):2993-2999. Epub 2017 Mar 7 doi: 10.1182/blood-2016-12-753830. PMID: 28270454Free PMC Article
Combined newborn screening for familial hemophagocytic lymphohistiocytosis and severe T- and B-cell immunodeficiencies.
Borte S, Meeths M, Liebscher I, Krist K, Nordenskjöld M, Hammarström L, von Döbeln U, Henter JI, Bryceson YT
J Allergy Clin Immunol 2014 Jul;134(1):226-8. Epub 2014 May 29 doi: 10.1016/j.jaci.2014.04.026. PMID: 24882743

Supplemental Content

Table of contents

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...