Hyper-IgE syndrome and autoimmunity in Mexican children

Yamazaki‐Nakashimada, Marco Antonio; Zaltzman-Girshevich, Samuel; Puente, Silvestre García de la; León-Bojorge, Beatríz de; Espinosa-Padilla, Sara; Sáez‐de‐Ocariz, Marimar; Carrasco-Daza, Daniel; Hernández-Bautista, Víctor Manuel; Pérez-Fernández, Lorenzo Felipe; Espinosa-Rosales, Francisco

doi:10.1007/s00467-006-0178-3

Cited by 22 publications

(8 citation statements)

References 28 publications

(45 reference statements)

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“…Autoimmunity associated with AD-HIES has not been previously described in the literature, although a few cases are thought to exist (personal communication with Dr. Alexandra Freeman, NIH/ NIAID). Autoimmunity has more commonly been associated with dedicator of cytokinesis 8 gene (DOCK8) deficiency syndrome [36][37][38][39], and includes autoimmune hemolytic anemia and vasculitis.…”

Section: Discussionmentioning

confidence: 99%

Successful Haploidentical Donor Hematopoietic Stem Cell Transplant and Restoration of STAT3 Function in an Adolescent with Autosomal Dominant Hyper-IgE Syndrome

et al. 2015

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Section: Discussionmentioning

confidence: 99%

Successful Haploidentical Donor Hematopoietic Stem Cell Transplant and Restoration of STAT3 Function in an Adolescent with Autosomal Dominant Hyper-IgE Syndrome

et al. 2015

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“…Severe mutations in STAT3 presented slightly higher frequency of gastrointestinal and endocrine manifestations. Although the presence of these complications was reported before in AD‐HIES, special attention should be paid to differing them from presentation of STAT3 gain‐of‐function variants associated with hypogammaglobulinemia and lymphoproliferative disorders . Diminished T helper 17 (Th17) could be helpful for immunologic diagnosis of HIES patients; however, these data were only available in 6 STAT3‐deficient patients (all <0.5% of total CD4 + T cells) and none of DOCK8‐deficient patients limiting the subcohort analysis.…”

Section: Discussionmentioning

confidence: 99%

The first cohort of Iranian patients with hyper immunoglobulin E syndrome: A long‐term follow‐up and genetic analysis

Tavassoli

Abolhassani

Yazdani

et al. 2019

Pediatric Allergy Immunology

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Background Hyper‐IgE syndromes (HIES) are distinct diseases characterized by recurrent cutaneous and lung infections, eczema, and elevated serum IgE level. Methods In this study, clinical manifestations, immunologic findings, and genetic studies of all patients with HIES in the Iranian national registry database were evaluated. Results A total of 129 HIES patients with a median age of 14.0 (9.0‐24.0) years were followed up for a total of 307.8 patient‐years. Genetic studies showed heterozygous STAT3 mutations in 19 patients and homozygous DOCK8 mutation in 16 patients. The mean of National Institutes of Health score in STAT3‐deficient patients was higher than in patients with DOCK8 mutation (P = 0.001). It was shown that the presence of pneumatocele and hematologic complication were significantly frequent in STAT3‐deficient cases compared to patients with DOCK8 deficiency (P = 0.001 and P = 0.002, respectively). Moreover, the median IgE serum levels were higher in patients with STAT3 gene mutation than in patients with DOCK8 gene mutation (P = 0.02). The eosinophils’ count was enhanced in patients with DOCK8 deficiency than in patients with STAT3 gene defects (P = 0.02). Conclusion Specific molecular study of STAT3 and DOCK8 mutations in patients with HIES clinical phenotype could help the physician to definitively characterize the disease. Since HIES showed the highest rate of unsolved combined immunodeficiency, investigation of other genetic and environmental factors could also help in understanding the mechanism of remaining patients as well as providing strategy into therapeutic modalities.

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“…However, before molecular diagnosis of HIES was possible, 5 cases of HIES associated with SLE were reported; 3 cases are clinically compatible with an AD-HIES phenotype [14][15][16] and 1 case with a DOCK8 mutation. 17 For the last, there was insufficient clinical data to classify the case. 18 …”

Section: Figurementioning

confidence: 99%

Ten-Year Follow-Up of a DOCK8-Deficient Child With Features of Systemic Lupus Erythematosus

Jouhadi¹,

Khadir²,

Ailal³

et al. 2014

Pediatrics

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Dedicator of cytokinesis 8 (DOCK8) deficiency is an innate error of adaptive immunity characterized by recurrent infections with viruses, bacteria, and fungi, typically high serum levels of immunoglobulin E, eosinophilia, and a progressive deterioration of T-and B-cell-mediated immunity. DOCK8 mutations are the second most common cause of hyper-immunoglobulin E syndromes (HIES). We report a case of DOCK8 deficiency associated with systemic lupus erythematosus (SLE). Association of SLE with HIES is very rare; to our knowledge, this is the sixth such case reported in the literature. A 10-year-old girl of consanguineous parents was followed in our clinic because of HIES since early childhood. She developed SLE with purpuric and necrotic skin lesions, diffuse arthritis, and glomerulonephritis. These autoimmune features were corroborated by the presence of antinuclear, anti-DNA, and antiphospholipid antibodies. The combination of HIES and autoimmunity makes treatment difficult, because the use of immunosuppressive drugs needed for SLE may worsen existing symptoms caused by the immunodeficiency. Our observation is the first case of association of SLE with HIES in the literature where the primary immune disease is genetically documented and labeled as DOCK8 deficiency.

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Hyper-IgE syndrome and autoimmunity in Mexican children

Cited by 22 publications

References 28 publications

Successful Haploidentical Donor Hematopoietic Stem Cell Transplant and Restoration of STAT3 Function in an Adolescent with Autosomal Dominant Hyper-IgE Syndrome

Successful Haploidentical Donor Hematopoietic Stem Cell Transplant and Restoration of STAT3 Function in an Adolescent with Autosomal Dominant Hyper-IgE Syndrome

The first cohort of Iranian patients with hyper immunoglobulin E syndrome: A long‐term follow‐up and genetic analysis

Ten-Year Follow-Up of a DOCK8-Deficient Child With Features of Systemic Lupus Erythematosus

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