Clinical features: Congenital neutropenia usually presents in early childhood and is slightly more common in males. [atlasgeneticsoncology.org]

Acute, severe neutropenia, particularly if another factor (eg, cancer) is present, significantly impairs the immune system and can lead to rapidly fatal infections. [merckmanuals.com]

The patient did not present any infectious manifestations until the sixth month of life, when she started attending a crèche. She presented with repetition respiratory infections and frequent diarrhea since then. [clinical-pediatrics-dermatology.imedpub.com]

Stomatological signs are almost always present after 2 years of age and are distinguished by erosive gingivitis, hemorrhage and pain, associated with papilla on the tongue and mucous membranes. Infections may be very severe or even lethal. [orpha.net]

Later, the patient presented when she was 11-year-old, and the oral health status had worsened. [ijabmr.org]

• Gingival Recession

  Gingival recession was seen lingually on the lower anteriors and in relation to 16, 26, 36, 44, 45, and 46 [Figure 1], Figure 2], Figure 3]. Pockets measuring 4–5 mm was seen among the posterior teeth. There was generalized bleeding on probing. [ijabmr.org]

Step 1: Screening Studies -CBC with Differential -Anti-neutrophil antibodies -Bone marrow biopsy -A CBC with differential 2 times per week for 6 weeks should be checked -The exclusion of anti-neutrophil antibodies is an essential part of the workup for [immunodeficiencysearch.com]

Additional workup should be dictated by the patient’s presenting symptoms. [cancertherapyadvisor.com]

Bone marrow biopsy was performed as part of the workup for patients when other diagnoses needed to be excluded. [frontiersin.org]

Hematopoietic stem cell transplantation (HSCT) is still the only treatment available for patients who are refractory to G-CSF treatment. © 2006 Elsevier Inc. All rights reserved. [iths.pure.elsevier.com]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Haematopoietic stem cell transplantation is the alternative treatment. [unboundmedicine.com]

Both disorders respond well to treatment with the myeloid growth factor, granulocyte colony-stimulating factor ( G-CSF ). [wikigenes.org]

Offer a full range of treatment options through coverage of the latest information on recently approved and soon-to-be approved drugs. [books.google.ro]

Prognosis The prognosis depends heavily on the quality of care and timeliness of treatment of severe infections, but also on the possibility of a bone marrow transplant, particularly in cases with malignant transformation. [orpha.net]

Genetics of Severe Congenital Neutropenia If you or a loved one is suspected to have severe congenital neutropenia an early diagnosis and early treatment is necessary for the best prognosis. [brighthub.com]

The prognosis in congenital immunodeficiency disorders is variable and depends on the specific disorder. [amboss.com]

[…] anemia –May involve neutropenia, anemia, thrombocytopenia, or pancytopenia –Associated with absent radius, thumb abnormalities, short stature * Cartilage-hair hypoplasia * Dyskeratosis congenita * Chédiak-Higashi * Reticular dysgenesis * Myelokathexis Prognosis [checkorphan.org]

What should you tell the patient and the family about prognosis? Given the broad range of potential conditions that can give rise to leukopenia, prognosis cannot be determined until the underlying cause has been identified. “What if” scenarios. [cancertherapyadvisor.com]

Thus, they were designated as having SN with unknown etiology. After excluding common secondary factors, SN over 6 months may be caused by uncommon virus infection or other etiology in some patients. [frontiersin.org]

Overview Congenital B-cell immunodeficiencies Congenital neutrophil and phagocyte disorders Immunodeficiency Etiology Clinical features Diagnostic findings Chronic granulomatous disease ( CGD ) X-linked or autosomal recessive inheritance Defective phagocytic [amboss.com]

In this singular observation, the cutaneous manifestations made it possible to specify the etiology of this congenital neutropenia in a brother and sister after several years of diagnostic wandering. [scitcentral.com]

Etiology To date, mutations in four genes have been implicated in severe congenital neutropenia. These include the neutrophil elastase gene ( ELA2 ), the GFI1 gene, the HAX1 gene and activation genes of Wiskott Aldrich disease ( WASP ). [orpha.net]

FOLLOW-UP RECOMMENDATIONS Management of febrile episodes (depends on etiology of neutropenia) Prompt evaluation by a physician. Obtain CBC with differential and blood culture. Treat with IV ... Fioredda F, Calvillo M, Bonanomi S, et al. [5minuteconsult.com]

Epidemiology : CD40 ligand deficiency is the most common form. [amboss.com]

Summary Epidemiology The prevalence in the general population is estimated at 1-1.7/333,300. Annual incidence is around 1/250,000 births. [orpha.net]

(Epidemiology study describing the incidence and type of infections that occur in neutropenic patients.) Freifeld, AG, Bow, EJ, Sepkowitz, KA. [clinicaladvisor.com]

Frequency International Epidemiological data are limited given the overlapping case definitions of congenital neutropenia and few patient registries. [emedicine.medscape.com]

This genetic heterogeneity suggests that several pathophysiological mechanisms may lead to this common clinical phenotype. [iths.pure.elsevier.com]

The pathophysiological mechanisms of these conditions are the object of extensive research and are not fully understood. Furthermore, severe congenital neutropenias may predispose to myelodysplastic syndromes or acute myeloid leukaemia. [unboundmedicine.com]

Although the book’s primary focus is on practical diagnosis and management, the pathophysiology of PID is also discussed. [books.google.ro]

ELANE mutations in cyclic and severe congenital neutropenia: genetics and pathophysiology. Hematol. Oncol. Clin. North Am. 2013; 27(1):19-41, vii. [invitae.com]

DNA Banking - Marshfield, WI, USA TAT : 2-3 weeks price : $670.00 Severe Congenital Neutropenia via the GFI1 gene method(s): ◦ Sequencing, Capillary (Sanger) PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, [genetests.org]

Preventative dental care: Because many of the infections occur in the mouth, it is important to maintain good oral hygiene. Antibacterial mouthwashes may be recommended. [verywell.com]

An 8-year-old Asian female child born to nonconsanguineous parents of Indian origin was referred to the Department of Pedodontics and Preventive Dentistry by a pediatrician. [ijabmr.org]

This medication is used to help prevent neutropenic fevers and infection, and to increase the production of a type of white blood cell known as granulocytes to help prevent low white blood cell counts. [brighthub.com]

Hematology involves the comprehensive study of the diagnosis, treatment, outcome, and prevention of blood diseases. [bcw.edu]