Repercussions of inborn errors of immunity on growth

Goudouris, Ekaterini; Segundo, Gesmar Rodrigues Silva; Poli, Cecilia

doi:10.1016/j.jped.2018.11.006

Cited by 7 publications

(5 citation statements)

References 33 publications

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“…It is already known that growth impairment was frequently detected, and the risk of growth failure is four times higher than in the healthy pediatric population (23)(24)(25). Growth can be affected in a variety of ways in patients with IEI: hyper catabolic states such as recurrent inflammatory and/or infectious conditions; reduced caloric intake because of low ingestion or malabsorption; endocrine disorders; osteoarticular dysplasia; and genetic syndromes such as Kabuki syndrome (26). In the studies regarding to patients with IEI, growth impairment was found in 11-28% of patients (27,28).…”

Section: Discussionmentioning

confidence: 99%

Needs for Increased Awareness of Gastrointestinal Manifestations in Patients With Human Inborn Errors of Immunity

Kim

Yoon

et al. 2021

Front. Immunol.

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The gastrointestinal (GI) tract is frequently affected by inborn errors of immunity (IEI), and GI manifestations can be present in IEI patients before a diagnosis is confirmed. We aimed to investigate clinical features, endoscopic and histopathologic findings in IEI patients. This was a retrospective cohort study conducted from 1995 to 2020. Eligible patients were diagnosed with IEI and had GI manifestations that were enough to require endoscopies. IEI was classified according to the International Union of Immunological Societies classification. Of 165 patients with IEI, 55 (33.3%) had GI manifestations, and 19 (11.5%) underwent endoscopy. Among those 19 patients, nine (47.4%) initially presented with GI manifestations. Thirteen patients (68.4%) were male, and the mean age of patients 11.5 ± 7.9 years (range, 0.6 – 26.6) when they were consulted and evaluated with endoscopy. The most common type of IEI with severe GI symptoms was “Disease of immune dysregulation” (31.6%) followed by “Phagocyte defects” (26.3%), according to the International Union of Immunological Societies classification criteria. Patients had variable GI symptoms such as chronic diarrhea (68.4%), hematochezia (36.8%), abdominal pain (31.6%), perianal disease (10.5%), and recurrent oral ulcers (10.5%). During the follow-up period, three patients developed GI tract neoplasms (early gastric carcinoma, mucosa associated lymphoid tissue lymphoma of colon, and colonic tubular adenoma, 15.8%), and 12 patients (63.2%) were diagnosed with inflammatory bowel disease (IBD)-like colitis. Investigating immunodeficiency in patients with atypical GI symptoms can provide an opportunity for correct diagnosis and appropriate disease-specific therapy. Gastroenterologists and immunologists should consider endoscopy when atypical GI manifestations appear in IEI patients to determine if IBD-like colitis or neoplasms including premalignant and malignant lesions have developed. Also, if physicians in various fields are better educated about IEI-specific complications, early diagnosis and disease-specific treatment for IEI will be made possible.

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Section: Discussionmentioning

confidence: 99%

Needs for Increased Awareness of Gastrointestinal Manifestations in Patients With Human Inborn Errors of Immunity

Kim

Yoon

et al. 2021

Front. Immunol.

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“…Un 64% de los pacientes tuvo acceso a estudios genéticos, la mayoría de ellos por medio de protocolos de investigación. En casi la totalidad de los pacientes en que se realizaron estudios de secuenciación se llegó a diagnóstico molecular, lo que confirma la utilidad previamente reportada de las técnicas de estudio genético actualmente en uso para el estudio de pacientes con IDCS 14 . El gen más frecuentemente mutado en este reporte de pacientes es RAG2 (36%), seguido por IL2RG (28%).…”

Section: Discussionunclassified

“…Un 88% de los casos recibió la vacuna Bacillus Calmette-Guerin (BCG) previo al diagnóstico, incluidos 2 pacientes con historia familiar positiva, 36% de los vacunados experimentó complicaciones de la BCG. La edad media a la derivación a trasplante fue de 7,4 meses (5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16). De los 25 pacientes, 11 fallecieron previo a la derivación a un centro de trasplante.…”

Section: Introductionunclassified

Inmunodeficiencia Combinada Severa, reporte de pacientes chilenos diagnosticados durante el período 1999-2020

Hoyos-Bachiloglu

Rojas²,

Borzutzky

et al. 2020

Rev Chil Pediatr

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La inmunodeficiencia combinada severa (IDCS) corresponde a una de las formas más graves de inmunodeficiencia primaria, existiendo escasos datos nacionales sobre ésta.Objetivo: describir la epidemiología, complicaciones, pronóstico y uso de la vacuna BCG en pacientes chilenos con IDCS.Pacientes y Método: Estudio retrospectivo de pacientes diagnosticados con IDCS entre los años 1999 y 2020 por médicos inmunólogos a lo largo de Chile. El diagnóstico de IDCS se realizó conforme a los criterios propuestos por Shearer: linfocitos T (CD3+) < 300 células/µL y proliferación 10% del límite de normalidad en respuesta a fitohemaglutinina o presencia de linfocitos T de origen materno. Se obtuvieron de la ficha clínica los datos correspondientes a: sexo, edad al diagnóstico, consanguinidad, región de origen, subpoblaciones linfocitarias, diagnóstico genético, complicaciones infecciosas y no infecciosas, vacunación BCG y sus complicaciones, edad de derivación al centro de TPH y causa de mortalidad no relacionada al TPH.Resultados: se diagnosticaron 25 casos de IDCS en 22 familias entre los años 1999-2020. 78% varones, la edad media a la primera manifestación fue 2.3 meses (0-7), mientras que la edad media al diagnóstico fue de 3.4 meses (0- 7). Un 16% de los casos tenía un antecedente familiar de IDCS. Un 40% de los casos fueron diagnosticados en la Región Metropolitana. El inmunofenotipo más frecuente fue T-B-NK+ (48%). Se realizaron estudios genéticos en 69,5% de los casos, siendo los defectos genéticos en RAG2 (39%) la causa más frecuente. Un 88% de los casos recibió la vacuna Bacillus Calmette-Guerin (BCG) previo al diagnóstico, incluidos 2 pacientes con historia familiar positiva, 36% de los vacunados experimentó complicaciones de la BCG. La edad media a la derivación a trasplante fue de 7,4 meses (5-16). De los 25 pacientes, 11 fallecieron previo a la derivación a un centro de trasplante.Conclusión: En Chile existe un retraso clínicamente significativo entre las primeras manifestaciones y el diagnóstico de IDCS, así como un importante retraso en la derivación a centros de trasplante. La mayoría de los pacientes con IDCS reciben la vacuna BCG, pese a tener antecedentes familiares, y experimentan frecuentemente complicaciones de la vacuna.

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“…Weight and height percentiles for age should always be assessed, and when possible the clinician should look at the weight/height trend over time, specifically evaluating for any suggestion of failure to thrive. Patients with IEI, especially those with endocrinopathies or enteropathy, may have growth abnormalities [14][15][16]. A careful assessment of lymph nodes and hepatosplenomegaly (looking for absence or presence of the features) is also crucial when evaluating for IEI.…”

Section: Diagnosing Inborn Errors Of Immunitymentioning

confidence: 99%

Clinical updates in inborn errors of immunity: a focus on the noninfectious clinical manifestations

Campbell,

Shaker,

Williams

2024

Current Opinion in Pediatrics

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Purpose of review In the last 5 years, several new inborn errors of immunity (IEI) have been described, especially in the areas of immune dysregulation and autoinflammation. As a result, the clinical presentation of IEIs has broadened. We review the heterogeneous presentation of IEIs and detail several of the recently described IEIs with a focus on the noninfectious manifestations commonly seen. Recent findings IEIs may present with early onset and/or multiple autoimmune manifestations, increased risk for malignancy, lymphoproliferation, severe atopy, autoinflammation and/or hyperinflammation. Because of this, patients can present to a wide array of providers ranging from primary care to various pediatric subspecialists. The International Union of Immunological Societies (IUIS) expert committee has created a phenotypic classification of IEIs in order to help clinicians narrow their evaluation based on the laboratory and clinical findings. Summary Both primary care pediatricians and pediatric subspecialists need to be aware of the common clinical features associated with IEI and recognize when to refer to allergy-immunology for further evaluation. Early diagnosis can lead to earlier treatment initiation and improve clinical outcomes for our patients.

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Repercussions of inborn errors of immunity on growth

Cited by 7 publications

References 33 publications

Needs for Increased Awareness of Gastrointestinal Manifestations in Patients With Human Inborn Errors of Immunity

Needs for Increased Awareness of Gastrointestinal Manifestations in Patients With Human Inborn Errors of Immunity

Inmunodeficiencia Combinada Severa, reporte de pacientes chilenos diagnosticados durante el período 1999-2020

Clinical updates in inborn errors of immunity: a focus on the noninfectious clinical manifestations

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