A large cohort from an immunology reference center and an algorithm for the follow-up of chronic neutropenia

Chronic neutropenia causes involve nutritional deficiencies and inborn errors of immunity(IEI), such as severe congenital neutropenia. To classify common chronic neutropenia causes in a pediatric immunology unit. We enrolled 109 chronic neutropenia patients admitted to a pediatric immunology departm...

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Veröffentlicht in:Journal of clinical immunology 2025-12, Vol.45 (1), p.38, Article 38
Hauptverfasser: Caka, Canan, Ergenoğlu, Damla Nur, Sinanoğlu, Nidanur, Maslak, Ibrahim Cemal, Bildik, Hacer Neslihan, Çiçek, Begüm, Esenboga, Saliha, Tezcan, Ilhan, Cagdas, Deniz
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container_title Journal of clinical immunology
container_volume 45
creator Caka, Canan
Ergenoğlu, Damla Nur
Sinanoğlu, Nidanur
Maslak, Ibrahim Cemal
Bildik, Hacer Neslihan
Çiçek, Begüm
Esenboga, Saliha
Tezcan, Ilhan
Cagdas, Deniz
description Chronic neutropenia causes involve nutritional deficiencies and inborn errors of immunity(IEI), such as severe congenital neutropenia. To classify common chronic neutropenia causes in a pediatric immunology unit. We enrolled 109 chronic neutropenia patients admitted to a pediatric immunology department between 2002–2022. We recorded clinical/laboratory features and genetic characteristics. The male/female ratio was 63/46. Fifty-eight patients had parental consanguinity(57.4%). 26.6% ( n  = 29) patients had at least one individual in their family with neutropenia. Common symtpoms at presentation were upper respiratory tract infections(URTI)(31.1%), oral aphthae(23.6%), skin infections(23.6%), pneumonia(20.8%), and recurrent abscesses(12.3%). Common infections during follow-up were URTI(56.8%), pneumonia(33%), skin infections(25.6%), gastroenteritis(18.3%), and recurrent abscesses(14,6%). Common long-term complications were dental problems( n  = 51), osteoporosis( n  = 22), growth retardation( n  = 14), malignancy( n  = 16)[myelodysplastic syndrome( n  = 10), large granulocytic leukemia( n  = 1), acute lymphoblastic leukemia( n  = 1), Hodgkin lymphoma( n  = 1), EBV-related lymphoma( n  = 1), leiomyosarcoma( n  = 1), and thyroid neoplasm( n  = 1)]. We performed a genetic study in 86 patients, and 69(71%) got a genetic diagnosis. Common gene defects were HAX-1( n  = 26), ELA-2 (ELANE)( n  = 10), AP3B1( n  = 4), and ADA-2( n  = 4) gene defects. The IEI ratio(70.6%) was high. GCSF treatment(93.4%), immunoglobulin replacement therapy(18.7%), and HSCT(15.9%) were the treatment options. The mortality rate was 12.9%( n  = 14). The most common long term complications were dental problems that is three times more common in patients with known genetic mutations. We prepared an algorithm for chronic neutropenia depending on the present cohort. An important rate of inborn errors of immunity, especially combined immunodeficiency(11.9%) was presented in addition to congenital phagocytic cell defects. Early diagnosis will allow us tailor the disease-specific treatment options sooner, preventing irreversible consequences.
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To classify common chronic neutropenia causes in a pediatric immunology unit. We enrolled 109 chronic neutropenia patients admitted to a pediatric immunology department between 2002–2022. We recorded clinical/laboratory features and genetic characteristics. The male/female ratio was 63/46. Fifty-eight patients had parental consanguinity(57.4%). 26.6% ( n  = 29) patients had at least one individual in their family with neutropenia. Common symtpoms at presentation were upper respiratory tract infections(URTI)(31.1%), oral aphthae(23.6%), skin infections(23.6%), pneumonia(20.8%), and recurrent abscesses(12.3%). Common infections during follow-up were URTI(56.8%), pneumonia(33%), skin infections(25.6%), gastroenteritis(18.3%), and recurrent abscesses(14,6%). Common long-term complications were dental problems( n  = 51), osteoporosis( n  = 22), growth retardation( n  = 14), malignancy( n  = 16)[myelodysplastic syndrome( n  = 10), large granulocytic leukemia( n  = 1), acute lymphoblastic leukemia( n  = 1), Hodgkin lymphoma( n  = 1), EBV-related lymphoma( n  = 1), leiomyosarcoma( n  = 1), and thyroid neoplasm( n  = 1)]. We performed a genetic study in 86 patients, and 69(71%) got a genetic diagnosis. Common gene defects were HAX-1( n  = 26), ELA-2 (ELANE)( n  = 10), AP3B1( n  = 4), and ADA-2( n  = 4) gene defects. The IEI ratio(70.6%) was high. GCSF treatment(93.4%), immunoglobulin replacement therapy(18.7%), and HSCT(15.9%) were the treatment options. The mortality rate was 12.9%( n  = 14). The most common long term complications were dental problems that is three times more common in patients with known genetic mutations. We prepared an algorithm for chronic neutropenia depending on the present cohort. 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To classify common chronic neutropenia causes in a pediatric immunology unit. We enrolled 109 chronic neutropenia patients admitted to a pediatric immunology department between 2002–2022. We recorded clinical/laboratory features and genetic characteristics. The male/female ratio was 63/46. Fifty-eight patients had parental consanguinity(57.4%). 26.6% ( n  = 29) patients had at least one individual in their family with neutropenia. Common symtpoms at presentation were upper respiratory tract infections(URTI)(31.1%), oral aphthae(23.6%), skin infections(23.6%), pneumonia(20.8%), and recurrent abscesses(12.3%). Common infections during follow-up were URTI(56.8%), pneumonia(33%), skin infections(25.6%), gastroenteritis(18.3%), and recurrent abscesses(14,6%). Common long-term complications were dental problems( n  = 51), osteoporosis( n  = 22), growth retardation( n  = 14), malignancy( n  = 16)[myelodysplastic syndrome( n  = 10), large granulocytic leukemia( n  = 1), acute lymphoblastic leukemia( n  = 1), Hodgkin lymphoma( n  = 1), EBV-related lymphoma( n  = 1), leiomyosarcoma( n  = 1), and thyroid neoplasm( n  = 1)]. We performed a genetic study in 86 patients, and 69(71%) got a genetic diagnosis. Common gene defects were HAX-1( n  = 26), ELA-2 (ELANE)( n  = 10), AP3B1( n  = 4), and ADA-2( n  = 4) gene defects. The IEI ratio(70.6%) was high. GCSF treatment(93.4%), immunoglobulin replacement therapy(18.7%), and HSCT(15.9%) were the treatment options. The mortality rate was 12.9%( n  = 14). The most common long term complications were dental problems that is three times more common in patients with known genetic mutations. We prepared an algorithm for chronic neutropenia depending on the present cohort. An important rate of inborn errors of immunity, especially combined immunodeficiency(11.9%) was presented in addition to congenital phagocytic cell defects. 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To classify common chronic neutropenia causes in a pediatric immunology unit. We enrolled 109 chronic neutropenia patients admitted to a pediatric immunology department between 2002–2022. We recorded clinical/laboratory features and genetic characteristics. The male/female ratio was 63/46. Fifty-eight patients had parental consanguinity(57.4%). 26.6% ( n  = 29) patients had at least one individual in their family with neutropenia. Common symtpoms at presentation were upper respiratory tract infections(URTI)(31.1%), oral aphthae(23.6%), skin infections(23.6%), pneumonia(20.8%), and recurrent abscesses(12.3%). Common infections during follow-up were URTI(56.8%), pneumonia(33%), skin infections(25.6%), gastroenteritis(18.3%), and recurrent abscesses(14,6%). Common long-term complications were dental problems( n  = 51), osteoporosis( n  = 22), growth retardation( n  = 14), malignancy( n  = 16)[myelodysplastic syndrome( n  = 10), large granulocytic leukemia( n  = 1), acute lymphoblastic leukemia( n  = 1), Hodgkin lymphoma( n  = 1), EBV-related lymphoma( n  = 1), leiomyosarcoma( n  = 1), and thyroid neoplasm( n  = 1)]. We performed a genetic study in 86 patients, and 69(71%) got a genetic diagnosis. Common gene defects were HAX-1( n  = 26), ELA-2 (ELANE)( n  = 10), AP3B1( n  = 4), and ADA-2( n  = 4) gene defects. The IEI ratio(70.6%) was high. GCSF treatment(93.4%), immunoglobulin replacement therapy(18.7%), and HSCT(15.9%) were the treatment options. The mortality rate was 12.9%( n  = 14). The most common long term complications were dental problems that is three times more common in patients with known genetic mutations. We prepared an algorithm for chronic neutropenia depending on the present cohort. An important rate of inborn errors of immunity, especially combined immunodeficiency(11.9%) was presented in addition to congenital phagocytic cell defects. Early diagnosis will allow us tailor the disease-specific treatment options sooner, preventing irreversible consequences.</abstract><cop>New York</cop><pub>Springer US</pub><pmid>39499404</pmid><doi>10.1007/s10875-024-01816-4</doi><orcidid>https://orcid.org/0000-0003-2213-4627</orcidid></addata></record>
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1573-2592
1573-2592
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subjects Abscesses
Acute lymphoblastic leukemia
Adolescent
Algorithms
Biomedical and Life Sciences
Biomedicine
Child
Child, Preschool
Cohort Studies
Consanguinity
Diagnosis
Female
Follow-Up Studies
Gastroenteritis
Genetic screening
Granulocytic leukemia
Growth rate
Hodgkin's lymphoma
Humans
Immunity
Immunodeficiency
Immunology
Infant
Infections
Infectious Diseases
Internal Medicine
Leukemia
Lymphatic leukemia
Lymphoma
Male
Malignancy
Medical Microbiology
Myelodysplastic syndrome
Neutropenia
Neutropenia - genetics
Neutropenia - immunology
Nutrient deficiency
Original Article
Osteoporosis
Patients
Pediatrics
Phagocytes
Pneumonia
Respiratory tract infection
title A large cohort from an immunology reference center and an algorithm for the follow-up of chronic neutropenia
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