An infant with X‐linked anhidrotic ectodermal dysplasia with immunodeficiency presenting with Pneumocystis pneumonia: A case report
Abstract Pneumocystis jirovecii pneumonia associated with primary immunodeficiency should be considered in infants with slowly progressing cyanosis, even without fever or respiratory symptoms. Genetic counseling is crucial for incontinentia pigmenti families in advance of pregnancy because lethal in...
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Wiley
2021
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oai:doaj.org-article:dc3a5ff08f5943cf9853e67df67a804c2021-12-01T06:36:08ZAn infant with X‐linked anhidrotic ectodermal dysplasia with immunodeficiency presenting with Pneumocystis pneumonia: A case report2050-090410.1002/ccr3.5093https://doaj.org/article/dc3a5ff08f5943cf9853e67df67a804c2021-11-01T00:00:00Zhttps://doi.org/10.1002/ccr3.5093https://doaj.org/toc/2050-0904Abstract Pneumocystis jirovecii pneumonia associated with primary immunodeficiency should be considered in infants with slowly progressing cyanosis, even without fever or respiratory symptoms. Genetic counseling is crucial for incontinentia pigmenti families in advance of pregnancy because lethal infections can occur before the diagnosis of X‐linked anhidrotic ectodermal dysplasia with immunodeficiency.Miwako ToyoharaYuko KajihoEtsushi ToyofukuChie TakahashiKeiho OwadaShoichiro KandaYutaka HaritaHidenori OhnishiTaizo WadaKohsuke ImaiHirokazu KaneganeTomohiro MorioAkira OkaWileyarticlegenetic counselingincontinentia pigmentiPneumocystis jirovecii pneumoniaX‐linked anhidrotic ectodermal dysplasia with immunodeficiencyMedicineRMedicine (General)R5-920ENClinical Case Reports, Vol 9, Iss 11, Pp n/a-n/a (2021) |
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DOAJ |
| language |
EN |
| topic |
genetic counseling incontinentia pigmenti Pneumocystis jirovecii pneumonia X‐linked anhidrotic ectodermal dysplasia with immunodeficiency Medicine R Medicine (General) R5-920 |
| spellingShingle |
genetic counseling incontinentia pigmenti Pneumocystis jirovecii pneumonia X‐linked anhidrotic ectodermal dysplasia with immunodeficiency Medicine R Medicine (General) R5-920 Miwako Toyohara Yuko Kajiho Etsushi Toyofuku Chie Takahashi Keiho Owada Shoichiro Kanda Yutaka Harita Hidenori Ohnishi Taizo Wada Kohsuke Imai Hirokazu Kanegane Tomohiro Morio Akira Oka An infant with X‐linked anhidrotic ectodermal dysplasia with immunodeficiency presenting with Pneumocystis pneumonia: A case report |
| description |
Abstract Pneumocystis jirovecii pneumonia associated with primary immunodeficiency should be considered in infants with slowly progressing cyanosis, even without fever or respiratory symptoms. Genetic counseling is crucial for incontinentia pigmenti families in advance of pregnancy because lethal infections can occur before the diagnosis of X‐linked anhidrotic ectodermal dysplasia with immunodeficiency. |
| format |
article |
| author |
Miwako Toyohara Yuko Kajiho Etsushi Toyofuku Chie Takahashi Keiho Owada Shoichiro Kanda Yutaka Harita Hidenori Ohnishi Taizo Wada Kohsuke Imai Hirokazu Kanegane Tomohiro Morio Akira Oka |
| author_facet |
Miwako Toyohara Yuko Kajiho Etsushi Toyofuku Chie Takahashi Keiho Owada Shoichiro Kanda Yutaka Harita Hidenori Ohnishi Taizo Wada Kohsuke Imai Hirokazu Kanegane Tomohiro Morio Akira Oka |
| author_sort |
Miwako Toyohara |
| title |
An infant with X‐linked anhidrotic ectodermal dysplasia with immunodeficiency presenting with Pneumocystis pneumonia: A case report |
| title_short |
An infant with X‐linked anhidrotic ectodermal dysplasia with immunodeficiency presenting with Pneumocystis pneumonia: A case report |
| title_full |
An infant with X‐linked anhidrotic ectodermal dysplasia with immunodeficiency presenting with Pneumocystis pneumonia: A case report |
| title_fullStr |
An infant with X‐linked anhidrotic ectodermal dysplasia with immunodeficiency presenting with Pneumocystis pneumonia: A case report |
| title_full_unstemmed |
An infant with X‐linked anhidrotic ectodermal dysplasia with immunodeficiency presenting with Pneumocystis pneumonia: A case report |
| title_sort |
infant with x‐linked anhidrotic ectodermal dysplasia with immunodeficiency presenting with pneumocystis pneumonia: a case report |
| publisher |
Wiley |
| publishDate |
2021 |
| url |
https://doaj.org/article/dc3a5ff08f5943cf9853e67df67a804c |
| work_keys_str_mv |
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1718405509236654080 |