Literature DB >> 535190

Reticular dysgenesis: report of two brothers.

T Español, J Compte, C Alvarez, N Tallada, R Laverde, G Peguero.   

Abstract

We describe two brothers with marked leucopenia, lymphopenia, no immunologicl response to infections (no Ig production, negative PHA response and very low number of T and B lymphocytes in peripheral blood) and hypocellular marrow. They died at 12 and 8 days of life with infection (E. coli and Klebsiella, respectively).

Entities:  

Mesh：

Year:  1979        PMID： 535190      PMCID： PMC1537907     

Source DB:  PubMed          Journal:  Clin Exp Immunol        ISSN： 0009-9104            Impact factor:   4.330


  11 in total

1.  THYMIC ALYMPHOPLASIA AND CONGENITAL ALEUKOCYTOSIS.

Authors:  D GITLIN; G VAWTER; J M CRAIG
Journal:  Pediatrics       Date:  1964-02       Impact factor: 7.124

2.  Reticular dysgenesia.

Authors:  O de VAAL; V SEYNHAEVE
Journal:  Lancet       Date:  1959-12-19       Impact factor: 79.321

3.  Demonstration of immunoglobulin on the surface of thymus lymphocytes.

Authors:  V Santana; N Wedderburn; J L Turk
Journal:  Immunology       Date:  1974-07       Impact factor: 7.397

4.  Classification of primary immunodeficiencies.

Authors:  M D Cooper; W P Faulk; H H Fudenberg; R A Good; W Hitzig; H Kunkel; F S Rosen; M Seligmann; J Soothill; R J Wedgwood
Journal:  N Engl J Med       Date:  1973-05-03       Impact factor: 91.245

5.  The effect of anaesthesia on the lymphocyte response to phytohaemagglutinin.

Authors:  T Espanol; G B Todd; J F Soothill
Journal:  Clin Exp Immunol       Date:  1974-09       Impact factor: 4.330

6.  T and B lymphocyte subpopulations in children.

Authors:  T A Fleisher; J R Luckasen; A Sabad; R C Gehrtz; J H Kersey
Journal:  Pediatrics       Date:  1975-02       Impact factor: 7.124

7.  Subpopulations of human T lymphocytes. I. Studies in immunodeficient patients.

Authors:  S Gupta; R A Good
Journal:  Clin Exp Immunol       Date:  1977-11       Impact factor: 4.330

Review 8.  Immunologic reconstitution.

Authors:  W D Biggar; B H Park; R A Good
Journal:  Annu Rev Med       Date:  1973       Impact factor: 13.739

9.  Congenital immunodeficiency and agranulocytosis (reticular dysgenesia).

Authors:  R J Haas; D Niethammer; S F Goldmann; W Heit; U Bienzle; E Kleihauer
Journal:  Acta Paediatr Scand       Date:  1977-05

10.  Thymic alymphoplasia and congenital aleukocytosis (reticular dysgenesia).

Authors:  K Alonso; J M Dew; W R Starke
Journal:  Arch Pathol       Date:  1972-08
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  1 in total

1.  Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2.

Authors:  Ulrich Pannicke; Manfred Hönig; Isabell Hess; Claudia Friesen; Karlheinz Holzmann; Eva-Maria Rump; Thomas F Barth; Markus T Rojewski; Ansgar Schulz; Thomas Boehm; Wilhelm Friedrich; Klaus Schwarz
Journal:  Nat Genet       Date:  2008-11-30       Impact factor: 38.330
  1 in total

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