Immunodeficiency in a female patient with Incontinentia Pigmenti

被引:1
|
作者
Sacta, Maria [1 ]
Gabryszewski, Stanislaw [1 ]
Reid, Whitney [1 ]
Jyonouchi, Soma [2 ]
机构
[1] Childrens Hosp Philadelphia, Philadelphia, PA USA
[2] Univ Penn, Childrens Hosp Philadelphia, Philadelphia, PA USA
关键词
Incontinentia pigmenti; PID; NEMO;
D O I
10.1016/j.clim.2023.109484
中图分类号
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号
100102 ;
摘要
137
引用
收藏
页码:76 / 77
页数:2
相关论文
共 50 条
  • [11] Somatic Mosaicism of a Novel IKBKG Mutation in a Male Patient with Incontinentia Pigmenti
    Hull, Sarah
    Arno, Gavin
    Thomson, Penelope
    Mutch, Stacey
    Webster, Andrew R.
    Rai, Harjeet
    Hill, Virginia
    Moore, Anthony T.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2015, 167 (07) : 1601 - 1604
  • [12] Partial Loss of NEMO Function in a Female Carrier with No Incontinentia Pigmenti
    Cifaldi, Cristina
    Sgrulletti, Mayla
    Di Cesare, Silvia
    Rivalta, Beatrice
    Emanuele, Agolini
    Colucci, Lucia
    Moscato, Giusella Maria Francesca
    Matraxia, Marta
    Perrone, Chiara
    Di Matteo, Gigliola
    Cancrini, Caterina
    Moschese, Viviana
    JOURNAL OF CLINICAL MEDICINE, 2025, 14 (02)
  • [13] Arterial occlusion mimicking vasculitis in a patient with incontinentia pigmenti
    Beccastrini, E.
    Baldereschi, G.
    D'Elios, M. M.
    Emmi, L.
    AUTOIMMUNITY HIGHLIGHTS, 2013, 4 (02) : 63 - 65
  • [14] Concomitant diagnosis of sarcoidosis and incontinentia pigmenti in an epileptic patient
    Obermann, M.
    Weber, R.
    EUROPEAN JOURNAL OF NEUROLOGY, 2008, 15 (05) : E36 - E37
  • [15] An extreme case of retinal avascularity in a female neonate with incontinentia pigmenti
    Meallet, MA
    Song, J
    Stout, JT
    RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES, 2004, 24 (04): : 613 - 615
  • [16] Hydrops fetalis in three male fetuses of a female with incontinentia pigmenti
    Dufke, A
    Vollmer, B
    Kendziorra, H
    Mackensen-Haen, S
    Orth, U
    Orlikowsky, T
    Gal, A
    PRENATAL DIAGNOSIS, 2001, 21 (12) : 1019 - 1021
  • [17] Retinopathy in incontinentia pigmenti
    Rishi, Pukhraj
    Singh, Niharika
    Rishi, Ekta
    INDIAN JOURNAL OF OPHTHALMOLOGY, 2019, 67 (06) : 940 - +
  • [18] Incontinentia pigmenti and the eye
    Islam, Yasmin Florence Khodeja
    Khurshid, Syed Gibran
    CURRENT OPINION IN OPHTHALMOLOGY, 2022, 33 (06) : 525 - 531
  • [19] Incontinentia pigmenti.
    LeRoux, BP
    Hornez, G
    Beaulieu, P
    Darie, H
    Millet, P
    ARCHIVES DE PEDIATRIE, 1996, 3 (02): : 152 - 155
  • [20] Incontinentia pigmenti in adults
    Scheuerle, Angela E.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2019, 179 (08) : 1415 - 1419