First Case of X-linked Recessive Anhidrotic Ectodermal Dysplasia with Immunodeficiency from Iran with Unusual Aspergillus Infection
-
Tooba Momen
,
Abdolvahab Alborzi
,
Mohammad Hossein Eslamian
,
Jean-Laurent Casanova
,
Capucine Picard
Abstract
NEMO (NF-κB essential modulator) is a regulatory factor involved in signaling pathways of innate and adaptive immune system. Hypomorphic mutation of IKBKG gene on X chromosome leads to X-linked recessive anhidrotic ectodermal dysplasia with immunodeficiency. The affected boys presented developmental phenotype with hypotrichosis, hypohidrosis; hypodontia with conical incisors; and susceptibility to pyogenic bacteria, mycobacteria, and viruses. Most of them have impaired antibody response to polysaccharide antigens. Here, we presented the case report of 7 years old Iranian boy with NEMO-deficiency and unusual Aspergillus infection.
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2. Doffinger R, Smahi A, Bessia C, Geissmann F, Feinberg J, Durandy A, et al. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. Nature genetics. 2001;27(3):277-85.
3. Hanson EP, Monaco-Shawver L, Solt LA, Madge LA, Banerjee PP, May MJ, et al. Hypomorphic nuclear factor-kappaB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity. The Journal of allergy and clinical immunology. 2008;122(6):1169-77 e16.
4. Puel A, Picard C, Ku CL, Smahi A, Casanova JL. Inherited disorders of NF-kappaB-mediated immunity in man. Current opinion in immunology. 2004;16(1):34-41.
5. Picard C, Casanova JL, Puel A. Infectious diseases in patients with IRAK-4, MyD88, NEMO, or IkappaBalpha deficiency. Clinical microbiology reviews. 2011;24(3):490-7.
6. Zonana J, Elder ME, Schneider LC, Orlow SJ, Moss C, Golabi M, et al. A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO). American journal of human genetics. 2000;67(6):1555-62.
7. Aradhya S, Woffendin H, Jakins T, Bardaro T, Esposito T, Smahi A, et al. A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations. Human molecular genetics. 2001;10(19):2171-9.8. Mansour S, Woffendin H, Mitton S, Jeffery I, Jakins T, Kenwrick S, et al. Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection. American journal of medical genetics. 2001;99(2):172-7.
9. Jain A, Ma CA, Liu S, Brown M, Cohen J, Strober W. Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia. Nature immunology. 2001;2(3):223-8.
10. Drogemuller C, Distl O, Leeb T. X-linked anhidrotic ectodermal dysplasia (ED1) in men, mice, and cattle. Genetics, selection, evolution : GSE. 2003;35 Suppl 1:S137-45.
11. Kobielak A, Kobielak K, Wisniewski SA, Midro AT, Trzeciak WH. Sequence polymorphisms of the EDA and the DL genes in the patients with an Xlinked and an autosomal forms of anhidrotic ectodermal dysplasia. Folia histochemica et cytobiologica / Polish Academy of Sciences, Polish Histochemical and Cytochemical Society. 2001;39(2):113-4.
12. Cluzeau C, Hadj-Rabia S, Jambou M, Mansour S, Guigue P, Masmoudi S, et al. Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. Human mutation. 2011;32(1):70-2.
13. Niehues T, Reichenbach J, Neubert J, Gudowius S, Puel A, Horneff G, et al. Nuclear factor kappaB essential modulator-deficient child with immunodeficiency yet without anhidrotic ectodermal dysplasia. The Journal of allergy and clinical immunology. 2004;114(6):1456-62.
14. Orange JS, Jain A, Ballas ZK, Schneider LC, Geha RS, Bonilla FA. The presentation and natural history of immunodeficiency caused by nuclear factor kappaB essential modulator mutation. The Journal of allergy and clinical immunology. 2004;113(4):725-33.
15. Abinun M, Spickett G, Appleton AL, Flood T, Cant AJ. Anhidrotic ectodermal dysplasia associated with specific antibody deficiency. European journal of pediatrics. 1996;155(2):146-7.
16. Schweizer P, Kalhoff H, Horneff G, Wahn V, Diekmann L. [Polysaccharide specific humoral immunodeficiency in ectodermal dysplasia. Case report of a boy with two affected brothers]. Klinische Padiatrie. 1999;211(6):459-61.
17. Dupuis-Girod S, Corradini N, Hadj-Rabia S, Fournet JC, Faivre L, Le Deist F, et al. Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother. Pediatrics. 2002;109(6):e97.
18. Keller MD, Petersen M, Ong P, Church J, Risma K, Burham J, et al. Hypohidrotic ectodermal dysplasia and immunodeficiency with coincident NEMO and EDA mutations. Frontiers in immunology. 2011;2:61.
19. Hubeau M, Ngadjeua F, Puel A, Israel L, Feinberg J, Chrabieh M, et al. New mechanism of Xlinked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein. Blood. 2011;118(4):926-35.
20. Stark R, Hartung A, Zehn D, Frentsch M, Thiel A. IL-12-mediated STAT4 signaling and TCR signal strength cooperate in the induction of CD40Lin human and mouse CD8+ T cells. European journal of immunology. 2013;43(6):1511-7.
21. Kawai T, Nishikomori R, Izawa K, Murata Y, Tanaka N, Sakai H, et al. Frequent somatic mosaicism of NEMO in T cells of patients with Xlinked anhidrotic ectodermal dysplasia with immunodeficiency. Blood. 2012;119(23):5458-66.
22. Nishikomori R, Akutagawa H, Maruyama K, Nakata-Hizume M, Ohmori K, Mizuno K, et al. Xlinked ectodermal dysplasia and immunodeficiency caused by reversion mosaicism of NEMO reveals a critical role for NEMO in human T-cell development and/or survival. Blood. 2004;103(12):4565-72.
23. Kataoka K, Muta T, Yamazaki S, Takeshige K. Activation of macrophages by linear (1rightarrow3)-beta-D-glucans. Impliations for the recognition of fungi by innate immunity. The Journal of biological chemistry. 2002;277(39):36825-31.
24. Orange JS, Levy O, Geha RS. Human disease resulting from gene mutations that interfere with appropriate nuclear factor-kappaB activation. Immunological reviews. 2005;203:21-37.
25. Schmidt C, Peng B, Li Z, Sclabas GM, Fujioka S, Niu J, et al. Mechanisms of Proinflammatory Cytokine-Induced Biphasic NF-@kB Activation. Mol Cell. 2003;12(5):14-.
26. Schmidt-Supprian M, Courtois G, Tian J, Coyle AJ, Israel A, Rajewsky K, et al. Mature T cells depend on signaling through the IKK complex. Immunity. 2003;19(3):377-89.
27. Orange JS, Brodeur SR, Jain A, Bonilla FA, Schneider LC, Kretschmer R, et al. Deficient natural killer cell cytotoxicity in patients with IKKgamma/NEMO mutations. The Journal of clinical investigation. 2002;109(11):1501-9.
2. Doffinger R, Smahi A, Bessia C, Geissmann F, Feinberg J, Durandy A, et al. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. Nature genetics. 2001;27(3):277-85.
3. Hanson EP, Monaco-Shawver L, Solt LA, Madge LA, Banerjee PP, May MJ, et al. Hypomorphic nuclear factor-kappaB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity. The Journal of allergy and clinical immunology. 2008;122(6):1169-77 e16.
4. Puel A, Picard C, Ku CL, Smahi A, Casanova JL. Inherited disorders of NF-kappaB-mediated immunity in man. Current opinion in immunology. 2004;16(1):34-41.
5. Picard C, Casanova JL, Puel A. Infectious diseases in patients with IRAK-4, MyD88, NEMO, or IkappaBalpha deficiency. Clinical microbiology reviews. 2011;24(3):490-7.
6. Zonana J, Elder ME, Schneider LC, Orlow SJ, Moss C, Golabi M, et al. A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO). American journal of human genetics. 2000;67(6):1555-62.
7. Aradhya S, Woffendin H, Jakins T, Bardaro T, Esposito T, Smahi A, et al. A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations. Human molecular genetics. 2001;10(19):2171-9.8. Mansour S, Woffendin H, Mitton S, Jeffery I, Jakins T, Kenwrick S, et al. Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection. American journal of medical genetics. 2001;99(2):172-7.
9. Jain A, Ma CA, Liu S, Brown M, Cohen J, Strober W. Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia. Nature immunology. 2001;2(3):223-8.
10. Drogemuller C, Distl O, Leeb T. X-linked anhidrotic ectodermal dysplasia (ED1) in men, mice, and cattle. Genetics, selection, evolution : GSE. 2003;35 Suppl 1:S137-45.
11. Kobielak A, Kobielak K, Wisniewski SA, Midro AT, Trzeciak WH. Sequence polymorphisms of the EDA and the DL genes in the patients with an Xlinked and an autosomal forms of anhidrotic ectodermal dysplasia. Folia histochemica et cytobiologica / Polish Academy of Sciences, Polish Histochemical and Cytochemical Society. 2001;39(2):113-4.
12. Cluzeau C, Hadj-Rabia S, Jambou M, Mansour S, Guigue P, Masmoudi S, et al. Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. Human mutation. 2011;32(1):70-2.
13. Niehues T, Reichenbach J, Neubert J, Gudowius S, Puel A, Horneff G, et al. Nuclear factor kappaB essential modulator-deficient child with immunodeficiency yet without anhidrotic ectodermal dysplasia. The Journal of allergy and clinical immunology. 2004;114(6):1456-62.
14. Orange JS, Jain A, Ballas ZK, Schneider LC, Geha RS, Bonilla FA. The presentation and natural history of immunodeficiency caused by nuclear factor kappaB essential modulator mutation. The Journal of allergy and clinical immunology. 2004;113(4):725-33.
15. Abinun M, Spickett G, Appleton AL, Flood T, Cant AJ. Anhidrotic ectodermal dysplasia associated with specific antibody deficiency. European journal of pediatrics. 1996;155(2):146-7.
16. Schweizer P, Kalhoff H, Horneff G, Wahn V, Diekmann L. [Polysaccharide specific humoral immunodeficiency in ectodermal dysplasia. Case report of a boy with two affected brothers]. Klinische Padiatrie. 1999;211(6):459-61.
17. Dupuis-Girod S, Corradini N, Hadj-Rabia S, Fournet JC, Faivre L, Le Deist F, et al. Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother. Pediatrics. 2002;109(6):e97.
18. Keller MD, Petersen M, Ong P, Church J, Risma K, Burham J, et al. Hypohidrotic ectodermal dysplasia and immunodeficiency with coincident NEMO and EDA mutations. Frontiers in immunology. 2011;2:61.
19. Hubeau M, Ngadjeua F, Puel A, Israel L, Feinberg J, Chrabieh M, et al. New mechanism of Xlinked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein. Blood. 2011;118(4):926-35.
20. Stark R, Hartung A, Zehn D, Frentsch M, Thiel A. IL-12-mediated STAT4 signaling and TCR signal strength cooperate in the induction of CD40Lin human and mouse CD8+ T cells. European journal of immunology. 2013;43(6):1511-7.
21. Kawai T, Nishikomori R, Izawa K, Murata Y, Tanaka N, Sakai H, et al. Frequent somatic mosaicism of NEMO in T cells of patients with Xlinked anhidrotic ectodermal dysplasia with immunodeficiency. Blood. 2012;119(23):5458-66.
22. Nishikomori R, Akutagawa H, Maruyama K, Nakata-Hizume M, Ohmori K, Mizuno K, et al. Xlinked ectodermal dysplasia and immunodeficiency caused by reversion mosaicism of NEMO reveals a critical role for NEMO in human T-cell development and/or survival. Blood. 2004;103(12):4565-72.
23. Kataoka K, Muta T, Yamazaki S, Takeshige K. Activation of macrophages by linear (1rightarrow3)-beta-D-glucans. Impliations for the recognition of fungi by innate immunity. The Journal of biological chemistry. 2002;277(39):36825-31.
24. Orange JS, Levy O, Geha RS. Human disease resulting from gene mutations that interfere with appropriate nuclear factor-kappaB activation. Immunological reviews. 2005;203:21-37.
25. Schmidt C, Peng B, Li Z, Sclabas GM, Fujioka S, Niu J, et al. Mechanisms of Proinflammatory Cytokine-Induced Biphasic NF-@kB Activation. Mol Cell. 2003;12(5):14-.
26. Schmidt-Supprian M, Courtois G, Tian J, Coyle AJ, Israel A, Rajewsky K, et al. Mature T cells depend on signaling through the IKK complex. Immunity. 2003;19(3):377-89.
27. Orange JS, Brodeur SR, Jain A, Bonilla FA, Schneider LC, Kretschmer R, et al. Deficient natural killer cell cytotoxicity in patients with IKKgamma/NEMO mutations. The Journal of clinical investigation. 2002;109(11):1501-9.
| Files | ||
| Issue | Vol 2, No 4 (2019) | |
| Section | Case Report | |
| DOI | https://doi.org/10.22034/igj.2019.212831.1031 | |
| Keywords | ||
| NF-κB essential modulator essential modulator (NEMO) Immunodeficiency recurrent infections | ||
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How to Cite
1.
Momen T, Alborzi A, Eslamian MH, Casanova J-L, Picard C. First Case of X-linked Recessive Anhidrotic Ectodermal Dysplasia with Immunodeficiency from Iran with Unusual Aspergillus Infection. Immunol Genet J. 2019;2(4):213-220.
