Total: 6 |
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PMID (PMCID) | ||
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29797522 |
MALE | |
Cutaneous squamous cell carcinoma, thyroid cancer and Langerhans cell histiocytosis in a patient with X-linked recessive Mendelian susceptibility to mycobacterial diseases with a nuclear factor-kappaB essential modifier mutation. | ||
Inoue Y, Shimizu A, Suto M, Kishi C, Takahashi A, Yasuda M, Iijima M, Arakawa H, Ishikawa O. J Dermatol. 2018;45(8):1017-1019. |
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Mutations of NEMO cause incontinentia pigmenti and X-linked ectodermal dysplasia with immunodeficiency. | ||
26812624 |
MIXED_SAMPLE | |
Transplantation from a symptomatic carrier sister restores host defenses but does not prevent colitis in NEMO deficiency. | ||
Klemann C, Pannicke U, Morris-Rosendahl DJ, Vlantis K, Rizzi M, Uhlig H, Vraetz T, Speckmann C, Strahm B, Pasparakis M, Schwarz K, Ehl S, Rohr JC. Clin Immunol. 2016;164:52-6. |
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NF-954B essential modulator (NEMO) deficiency causes ectodermal dysplasia with immunodeficiency in males, while manifesting as incontinentia pigmenti in heterozygous females. | ||
24721901 |
FEMALE | Adult |
Duplication at Xq28 involving IKBKG is associated with progressive macrocephaly, recurrent infections, ectodermal dysplasia, benign tumors, and neuropathy. | ||
van Asbeck E, Ramalingam A, Dvorak C, Chen TJ, Morava E. Clin Dysmorphol. 2014;23(3):77-82. |
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Our patient's symptoms overlapped with different IKBKG-associated phenotypes, including hypohidrotic ectodermal dysplasia, incontinentia pigmenti, immunodeficiency, recurrent isolated invasive pneumococcal disease and anhidrotic ectodermal dysplasia with immunodeficiency, osteopetrosis, and lymphedema. | ||
18222329 |
MALE | Infant |
A male infant with anhidrotic ectodermal dysplasia/immunodeficiency accompanied by incontinentia pigmenti and a mutation in the NEMO pathway. | ||
Chang TT, Behshad R, Brodell RT, Gilliam AC. J Am Acad Dermatol. 2008;58(2):316-20. |
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A male infant with anhidrotic ectodermal dysplasia/immunodeficiency accompanied by incontinentia pigmenti and a mutation in the NEMO pathway. | ||
16228229 |
FEMALE | Infant |
A new mutation in exon 7 of NEMO gene: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiency. | ||
Martinez-Pomar N, Munoz-Saa I, Heine-Suner D, Martin A, Smahi A, Matamoros N. Hum Genet. 2005;118(3-4):458-65. |
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A new mutation in exon 7 of NEMO gene: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiency. | ||
3902309 |
FEMALE | Child |
Actinomycosis meningitis in a girl with incontinentia pigmenti. | ||
Diamantopoulos N, Bergman I, Kaplan S. Clin Pediatr (Phila). 1985;24(11):651-4. |
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Although all tests of immunologic function were normal in this patient, her history of recurrent and unusual infections is consistent with previous suggestions of an undefined immunodeficiency state associated with incontinentia pigmenti. |