WHIM Syndrome Caused by Waldenström’s Macroglobulinemia-Associated Mutation CXCR4 L329fs

Journal of Clinical Immunology

Volumn 36, Issue 4, 2016, Pages 397-405

  Liu, Qian ^a   Pan, Catherina ^a   Lopez, Lizbeeth ^a   Gao, Jiliang ^a   Velez, Daniel ^a   Anaya O’Brien, Sandra ^a   Ulrick, Jean ^a   Littel, Patricia ^a   Corns, John S ^b   Ellenburg, Donald T ^c   Malech, Harry L ^a   Murphy, Philip M ^a   McDermott, David H ^a  

^a NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES   (United States)

^b East Tennessee Children s Hospital   (United States)

^c Allergy and Asthma Affiliates PC   (United States)

Author keywords

CXCR4; gain of function; immunodeficiency; internalization; mutation; WHIM syndrome

Indexed keywords

CALCIUM; CHEMOKINE RECEPTOR CXCR4; GRANULOCYTE COLONY STIMULATING FACTOR; IMMUNOGLOBULIN G; CXCR4 PROTEIN, HUMAN;

AMINO ACID SEQUENCE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT INHERITANCE; BONE MARROW BIOPSY; CALCIUM TRANSPORT; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CHILD; CODON; COMPUTER ASSISTED TOMOGRAPHY; FLUORESCENCE ACTIVATED CELL SORTING; FRAMESHIFT MUTATION; GAIN OF FUNCTION MUTATION; GENE SEQUENCE; GENETIC SCREENING; HEARING TEST; HUMAN; IMMUNE DEFICIENCY; IMMUNOGLOBULIN DEFICIENCY; INFECTION; INFECTION RATE; LABORATORY TEST; LEUKOCYTE COUNT; LYMPHADENOPATHY; MALE; MYELOKATHEXIS; NEUTROPENIA; NEUTROPHIL COUNT; NUCLEAR MAGNETIC RESONANCE IMAGING; OPEN READING FRAME; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; RECEPTOR DOWN REGULATION; RECURRENT INFECTION; SEVERE CONGENITAL NEUTROPENIA; STAPHYLOCOCCUS AUREUS; SYNDROME; SYSTOLIC HEART MURMUR; VACCINATION; VERRUCA VULGARIS; WALDENSTROEM MACROGLOBULINEMIA; WHIM SYNDROME; GENETICS; HEK293 CELL LINE; K-562 CELL LINE; MUTATION;

CHILD, PRESCHOOL; HEK293 CELLS; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; K562 CELLS; MALE; MUTATION; NEUTROPENIA; RECEPTORS, CXCR4; WALDENSTROM MACROGLOBULINEMIA; WARTS;

EID: 84964066709     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-016-0276-3     Document Type: Article

References (26)

1. Wetzler M, Talpaz M, Kleinerman ES, King A, Huh YO, Gutterman JU, et al. A new familial immunodeficiency disorder characterized by severe neutropenia, a defective marrow release mechanism, and hypogammaglobulinemia. Am J Med. 1990;89:663–72.
2. Krill Jr CE, Smith HD, Mauer AM. Chronic idiopathic granulocytopenia. N Engl J Med. 1964;270:973–9.
3. Zuelzer WW. “Myelokathexis”--a new form of chronic granulocytopenia. Report of a case. N Engl J Med. 1964;270:699–704.
4. Dotta L, Tassone L, Badolato R. Clinical and genetic features of Warts, Hypogammaglobulinemia, Infections and Myelokathexis (WHIM) syndrome. Curr Mol Med. 2011;11:317–25.
5. McDermott DH, Liu Q, Ulrick J, Kwatemaa N, Anaya-O’Brien S, Penzak SR, et al. The CXCR4 antagonist plerixafor corrects panleukopenia in patients with WHIM syndrome. Blood. 2011;118:4957–62.
6. Liu Q, Chen H, Ojode T, Gao X, Anaya-O’Brien S, Turner NA, et al. WHIM syndrome caused by a single amino acid substitution in the carboxy-tail of chemokine receptor CXCR4. Blood. 2012;120:181–9.
7. Tassone L, Moratto D, Vermi W, De Francesco M, Notarangelo LD, Porta F, et al. Defect of plasmacytoid dendritic cells in warts, hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome patients. Blood. 2010;116:4870–3.
8. Hernandez PA, Gorlin RJ, Lukens JN, Taniuchi S, Bohinjec J, Francois F, et al. Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease. Nat Genet. 2003;34:70–4.
9. Al Ustwani O, Kurzrock R, Wetzler M. Genetics on a WHIM. Br J Haematol 2014;164:15–23.
10. Diaz GA. CXCR4 mutations in WHIM syndrome: a misguided immune system? Immunol Rev. 2005;203:235–43.
11. Gulino AV. WHIM syndrome: a genetic disorder of leukocyte trafficking. Curr Opin Allergy Clin Immunol. 2003;3:443–50.
12. Kawai T, Malech HL. WHIM syndrome: congenital immune deficiency disease. Curr Opin Hematol. 2009;16:20–6.
13. Beaussant Cohen S, Fenneteau O, Plouvier E, Rohrlich PS, Daltroff G, Plantier I, et al. Description and outcome of a cohort of 8 patients with WHIM syndrome from the French Severe Chronic Neutropenia Registry. Orphanet J Rare Dis. 2012;7:71.
14. Busillo JM, Benovic JL. Regulation of CXCR4 signaling. Biochim Biophys Acta. 2007;1768:952–63.
15. Venkatesan S, Rose JJ, Lodge R, Murphy PM, Foley JF. Distinct mechanisms of agonist-induced endocytosis for human chemokine receptors CCR5 and CXCR4. Mol Biol Cell. 2003;14:3305–24.
16. Haribabu B, Richardson RM, Fisher I, Sozzani S, Peiper SC, Horuk R, et al. Regulation of human chemokine receptors CXCR4. Role of phosphorylation in desensitization and internalization. J Biol Chem. 1997;272:28726–31.
17. Walters KB, Green JM, Surfus JC, Yoo SK, Huttenlocher A. Live imaging of neutrophil motility in a zebrafish model of WHIM syndrome. Blood. 2010;116:2803–11.
18. Balabanian K, Lagane B, Pablos JL, Laurent L, Planchenault T, Verola O, et al. WHIM syndromes with different genetic anomalies are accounted for by impaired CXCR4 desensitization to CXCL12. Blood. 2005;105:2449–57.
19. McDermott DH, Lopez J, Deng F, Liu Q, Ojode T, Chen H, et al. AMD3100 is a potent antagonist at CXCR4(R334X), a hyperfunctional mutant chemokine receptor and cause of WHIM syndrome. J Cell Mol Med. 2010;15(10):2071–81.
20. Shearer WT, Rosenblatt HM, Gelman RS, Oyomopito R, Plaeger S, Stiehm ER, et al. Lymphocyte subsets in healthy children from birth through 18 years of age: the Pediatric AIDS Clinical Trials Group P1009 study. J Allergy Clin Immunol. 2003;112:973–80.
21. Bloemers BL, van Bleek GM, Kimpen JL, Bont L. Distinct abnormalities in the innate immune system of children with Down syndrome. J Pediatr. 2010;156:804–9. 9 e1–e5.
22. Piatosa B, Wolska-Kusnierz B, Pac M, Siewiera K, Galkowska E, Bernatowska E. B cell subsets in healthy children: reference values for evaluation of B cell maturation process in peripheral blood. Cytometry B Clin Cytom. 2010;78:372–81.
23. Treon SP, Cao Y, Xu L, Yang G, Liu X, Hunter ZR. Somatic mutations in MYD88 and CXCR4 are determinants of clinical presentation and overall survival in Waldenstrom macroglobulinemia. Blood. 2014;123:2791–6.
24. Mueller W, Schutz D, Nagel F, Schulz S, Stumm R. Hierarchical organization of multi-site phosphorylation at the CXCR4 C terminus. PLoS One. 2013;8, e64975.
25. Hunter ZR, Xu L, Yang G, Zhou Y, Liu X, Cao Y, et al. The genomic landscape of Waldenstrom macroglobulinemia is characterized by highly recurring MYD88 and WHIM-like CXCR4 mutations, and small somatic deletions associated with B-cell lymphomagenesis. Blood. 2014;123:1637–46.
26. McDermott DH, Liu Q, Velez D, Lopez L, Anaya-O’Brien S, Ulrick J, et al. A phase 1 clinical trial of long-term, low-dose treatment of WHIM syndrome with the CXCR4 antagonist plerixafor. Blood. 2014;123:2308–16.