Deficient T Cell Receptor Excision Circles (TRECs) in autosomal recessive hyper IgE syndrome caused by DOCK8 mutation: Implications for pathogenesis and potential detection by newborn screening

Clinical Immunology

Volumn 141, Issue 2, 2011, Pages 128-132

  Dasouki, Majed ^a   Okonkwo, Kingsley C ^b   Ray, Abhishek ^a   Folmsbeel, Caspian K ^a   Gozales, Diana ^c   Keles, Sevgi ^d   Puck, Jennifer M ^c   Chatila, Talal ^e  

^a UNIVERSITY OF KANSAS SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d SELCUK UNIVERSITY   (Turkey)

^e UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Dermatitis; DOCK8; Hyper IgE; Immunodeficiency; Job sdynrome; TRECs

Indexed keywords

DEDICATOR OF CYTOKINESIS 8 PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; ATOPIC DERMATITIS; CASE REPORT; COPY NUMBER VARIATION; EXON; FEMALE; FRAMESHIFT MUTATION; GENE SEQUENCE; HOMOZYGOSITY; HUMAN; HYPER IGE SYNDROME; IMMUNOASSAY; INFANT; MALE; NEWBORN SCREENING; PAKISTAN; PATHOGENESIS; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; SEVERE COMBINED IMMUNODEFICIENCY; SIBLING; SUPERINFECTION; T CELL RECEPTOR EXCISION CIRCLE;

ADULT; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; DIAGNOSIS, DIFFERENTIAL; DISEASES IN TWINS; DNA, CIRCULAR; ECZEMA; EXONS; FEMALE; FRAMESHIFT MUTATION; GENE REARRANGEMENT, T-LYMPHOCYTE; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HOMOZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; JOB'S SYNDROME; MALE; MIDDLE AGED; NEONATAL SCREENING; PAKISTAN; PEDIGREE; SEVERE COMBINED IMMUNODEFICIENCY; T-LYMPHOCYTE SUBSETS;

EID: 80054842183     PISSN: 15216616     EISSN: 15217035     Source Type: Journal    
DOI: 10.1016/j.clim.2011.06.003     Document Type: Article

References (22)

1. Renner E.D., Puck J.M., Holland S.M., Schmitt M., Weiss M., Frosch M., Bergmann M., Davis J., Belohradsky B.H., Grimbacher B. Autosomal Recessive Hyperimmunoglobulin E Syndrome: A distinct disease entity. J. Pediatr. 2004, 144:93-99.
2. Grimbacher B., Holland S.M., Gallin J.I., Greenberg F., Hill S.C., Malech H.L., Miller J.A., O'Connell A.C., Puck J.M. Hyper-IgE syndrome with recurrent infections-an autosomal dominant multisystem disorder. N. Engl. J. Med. 1999, 340:692-702.
3. Minegishi Y., Saito M., Tsuchiya S., Tsuge I., Takada H., Hara T., Kawamura N., Ariga T., Pasic S., Stojkovic O., Metin A., Karasuyama H. Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. Nature 2007, 448:1058-1062.
4. Holland S.M., DeLeo F.R., Elloumi H.Z., Hsu A.P., Uzel G., Brodsky N., Freeman A.F., Demidowich A., Davis J., Turner M.L., Anderson V.L., Darnell D.N., Welch P.A., Kuhns D.B., Frucht D.M., Malech H.L., Gallin J.I., Kobayashi S.D., Whitney A.R., Voyich J.M., Musser J.M., Woellner C., Schäffer A.A., Puck J.M., Grimbacher B. STAT3 mutations in the hyper-IgE syndrome. N. Engl. J. Med. 2007, 357:1608-1619.
5. Al Khatib S.A., Keles S., Garcia-Lloret M., Karakoc-Aydiner E., Reisli I., Artac H., Camcioglu Y., Cokugras H., Somer A., Kutukculer N., Yilmaz M., Ikinciogullari A., Yegin O., Yüksek M., Genel F., Kucukosmanoglu E., Baki A., Bahceciler N.N., Rambhatla A., Nickerson D.W., McGhee S., Barlan I.B., Chatila T. Defects along the T(H)17 differentiation pathway underlie genetically distinct forms of the hyper IgE syndrome. Allergy Clin. Immunol. 2009, 124:342-348.
6. Zhang Q., Davis J.C., Lamborn I.T., Freeman A.F., Jing H., Favreau A.J., Matthews H.F., Davis J., Turner M.L., Uzel G., Holland S.M., Su H.C. Combined immunodeficiency associated with DOCK8 mutations. N. Engl. J. Med. 2009, 361:2046-2055.
7. Engelhardt K.R., McGhee S., Winkler S., Sassi A., Woellner C., Lopez-Herrera G., Chen A., Kim H.S., Lloret M.G., Schulze I., Ehl S., Thiel J., Pfeifer D., Veelken H., Niehues T., Siepermann K., Weinspach S., Reisli I., Keles S., Genel F., Kutukculer N., Camcioǧlu Y., Somer A., Karakoc-Aydiner E., Barlan I., Gennery A., Metin A., Degerliyurt A., Pietrogrande M.C., Yeganeh M., Baz Z., Al-Tamemi S., Klein C., Puck J.M., Holland S.M., McCabe E.R., Grimbacher B., Chatila T.A. Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome. J. Allergy Clin. Immunol. 2009, 124:1289-1302.
8. Gatz S.A., Benninghoff U., Schütz C., Schulz A., Hönig M., Pannicke U., Holzmann K.-H., Schwarz K., Friedrich W. Curative treatment of autosomal-recessive hyper-IgE syndrome by hematopoietic cell transplantation. Bone Marrow Transplant. 2010, 1-5.
9. Bittner T.C., Pannicke U., Renner E.D., Notheis G., Hoffmann F., Belohradsky B.H., Wintergerst U., Hauser M., Klein B., Schwarz K., Schmid I., Albert M.H. Successful long-term correction of autosomal recessive hyper-IgE syndrome due to DOCK8 deficiency by hematopoietic stem cell transplantation. Klin. Padiatr. 2010, 222:351-355.
10. McDonald D.R., Massaad M.J., Johnston A., Keles S., Chatila T., Geha R.S., Pai S.Y. Successful engraftment of donor marrow after allogeneic hematopoietic cell transplantation in autosomal-recessive hyper-IgE syndrome caused by dedicator of cytokinesis 8 deficiency. J. Allergy Clin. Immunol. 2010, 126:1304-1305.
11. Grimbacher B., Schäffer A.A., Holland S.M., Davis J., Gallin J.I., Malech H.L., Atkinson T.P., Belohradsky B.H., Buckley R.H., Cossu F., Español T., Garty B.Z., Matamoros N., Myers L.A., Nelson R.P., Ochs H.D., Renner E.D., Wellinghausen N., Puck J.M. Genetic Linkage of Hyper-IgE Syndrome to Chromosome 4. Am. J. Hum. Genet. 1999, 65:735-744.
12. Douek D.C., McFarland R.D., Keiser P.H., Gage E.A., Massey J.M., Haynes B.F., et al. Changes in thymic function with age and during the treatment of HIV infection. Nature 1998, 335:170-174.
13. Chan K., Puck J.M. Development of population-based newborn screening for severe combined immunodeficiency. J. Allergy Clin. Immunol. 2005, 115:391-398.
14. Pien G.C., Orange J.S. Evaluation and clinical interpretation of hypergammaglobulinemia E: differentiating atopy from immunodeficiency. Ann. Allergy Asthma Immunol. 2008, 100:392-395.
15. Meller N., Merlot S., Guda C. CZH proteins: a new family of Rho-GEFs. J. Cell Sci. 2005, 118:4937-4946.
16. Cote J.F., Vuori K. GEF what? Dock180 and related proteins help Rac to polarize cells in new ways. Trends Cell. Biol. 2007, 17:383-393.
17. Randall K.L., Lambe T., Johnson A., Treanor B., Kucharska E., Domaschenz H., Whittle B., Tze L.E., Enders A., Crockford T.L., Bouriez-Jones T., Alston D., Cyster J.G., Lenardo M.J., Mackay F., Deenick E.K., Tangye S.G., Chan T.D., Camidge T., Brink R., Vinuesa C.G., Batista F.D., Cornall R.J., Goodnow C.C. Dock8 mutations cripple B cell immunological synapses, germinal centers and long-lived antibody production. Nat. Immunol. 2009, 10:1283-1291.
18. Minegishi Y., Saito M., Morio T. Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity. Immunity 2006, 25:745-755.
19. Puck J.M. Neonatal screening for severe combined immune deficiency. Curr. Opin. Allergy Clin. Immunol. 2007, 7:522-527.
20. Routes J.M., Grossman W.J., Verbsky J., Laessig R.H., Hoffman G.L., Brokopp C.D., Baker M.W. Statewide Newborn Screening for Severe T-Cell Lymphopenia. JAMA 2009, 302:2465-2470.
21. Gerstel-Thompson J.L., Wilkey J.F., Baptiste J.C., Navas J.S., Pai S.-Y., Pass K.A., Eaton R.B., Comeau A.M. High-Throughput Multiplexed T-Cell-Receptor Excision Circle Quantitative PCR Assay with Internal Controls for Detection of Severe Combined Immunodeficiency in Population-Based Newborn Screening. Clin. Chem. 2010, 56:1466-1474.
22. Janik D.K., Lindau-Shepard B., Comeau A.M., Pass K.A. A Multiplex Immunoassay Using the Guthrie Specimen to Detect T-Cell Deficiencies Including Severe Combined Immunodeficiency Disease. Clin. Chem. 2010, 56:1460-1465.