|Year : 2022 | Volume
| Issue : 3 | Page : 369-371
Leukocyte adhesion deficiency-1 with oral manifestations – A rare case report
Sethumanjusha Saranu, Yalamanchili Samata, Nunsavathu Purnachandra Rao Naik, Garikipati Anoop
Department of Oral Medicine and Radiology, Sibar Institute of Dental Sciences, Guntur, Andhra Pradesh, India
|Date of Submission||09-Dec-2021|
|Date of Decision||27-Jan-2022|
|Date of Acceptance||10-Aug-2022|
|Date of Web Publication||26-Sep-2022|
2-4-18, 2nd Lane, Stambalagaravu, Guntur - 522 006, Andhra Pradesh
Source of Support: None, Conflict of Interest: None
| Abstract|| |
Leukocyte adhesion deficiency 1 (LAD) is a rare, inherited disorder portrayed by the inability of leukocytes to emigrate from the bloodstream toward sites of inflammation. LAD should be considered a rare but possible disorder in patients with persistent periodontal problems. This paper presents a case of leukocyte adhesion deficiency in an 18-year-old girl and a brief literature review.
Keywords: CD 18, leukocyte adhesion deficiency, periodontitis
|How to cite this article:|
Saranu S, Samata Y, Rao Naik NP, Anoop G. Leukocyte adhesion deficiency-1 with oral manifestations – A rare case report. J Indian Acad Oral Med Radiol 2022;34:369-71
|How to cite this URL:|
Saranu S, Samata Y, Rao Naik NP, Anoop G. Leukocyte adhesion deficiency-1 with oral manifestations – A rare case report. J Indian Acad Oral Med Radiol [serial online] 2022 [cited 2022 Dec 10];34:369-71. Available from: http://www.jiaomr.in/text.asp?2022/34/3/369/356963
| Introduction|| |
The immune system is a magnificent alliance between cells and proteins that work together to provide defense against infection. When this alliance is disturbed, this encounters a disease. These disturbances can be in the form of primary immune deficiencies. One such immunodeficiency is leukocyte adhesion deficiency (LAD 1), an autosomal recessive disorder. LAD 1 is estimated to occur in 1 per million people worldwide.
The present paper reports a rare case of LAD in an 18-year-old female patient who had presented with oral manifestations.
| Case Report|| |
An 18-year-old young female patient presented with a chief complaint of pain in the gums since two months. She revealed a history of pain which was gradual in onset, intermittent in nature, throbbing type, non-radiating, aggravated on taking food, and relieved gradually. On extra oral examination, both right and left submandibular lymph nodes were palpable with a size of 1 × 1 cm, and were non tender, soft in consistency [Table 1].
Intraoral examination showed pallor of buccal, labial, and lingual mucosa. Gingival and periodontal status revealed an erythematous, edematous marginal, and attached gingiva with erosive areas associated with loss of interdental papilla and generalized gingival recession. On palpation bleeding on probing was noticed with generalized periodontal pockets and furcation involvement [Figure 1].
Based on the chief complaint and history and on considering clinical findings, we provisionally considered it to be desquamative gingivitis associated with aggressive periodontitis.
The patient was advised for radiographic and hematological investigations. Orthopantomograph revealed generalized horizontal bone loss and furcation involvement in all first and second molars [Figure 2].
On the recall visit, clinically the lesions were still persistent. She was again advised for a blood workup to assess the state of anemia and leukocytosis. But white blood cells count and, in particular, neutrophil count were still high.
Based on the clinical findings and laboratory investigations, a diagnosis of primary immunodeficiency was considered. So, the patient was advised for advanced laboratory investigations to assess the immunoglobulins and lymphocytes using immunoturbidimetry and flow cytometry, respectively [Table 2].
Therapeutic intervention and follow-up
Symptomatic management using topical anesthetic gel was advocated, and iron supplements were also prescribed to improve her hemoglobin levels. Oral prophylaxis was carried out with the appropriate use of antibiotics. Further clinical follow-up was hindered as the patient suffered from grave gastrointestinal tract infections and was under physician supervision at higher centers.
Considering the history and clinical findings and based on the laboratory findings, it was diagnosed as leukocyte adhesion deficiency type 1(LAD 1).
| Discussion|| |
Interaction of leukocytes with vascular endothelial cells plays an important role to migrate the defense cells to the site of insult. This mechanism takes place in four steps: rolling, slow adhesion, firm adhesion, and transmigration.,
LAD I is caused by mutations in ITGB2 (integrin beta-2), the gene located at 21q22 β2 integrins, there by affecting the third phase of adhesion cascade.
LAD 1 subtypes include severe, moderate, or variable. In severe form, less than 2% of CD18- expressing neutrophils. In moderate form, 2-30% of CD18-expressing neutrophils in which patients survive childhood with recurrent infections and mortality was reported by 40 years.,
Clinical features of leukocyte deficiency type 1 are delayed separation of the umbilical cord with severe omphalitis and recurrent severe infections that usually affect lungs, skin, and gingiva in children. The absence of pus at the infection site is the characteristic of LAD 1. Most frequently isolated microbes from these patients are Staphylococcus aureus and gram-negative pseudomonas.
Oral manifestations include oral ulcers, severe periodontitis, and gradual loss of permanent teeth. LAD sub gingival microbes are dissimilar to localized aggressive periodontitis.
Diagnosis is usually made based on clinical presentation, increased leukocyte count on laboratory investigations, and absence of CD 18, CD 11a, CD 11b, and CD 11c on flow cytometry analysis. The gold standard for diagnosis is the identification of a mutation in the ITGB2 gene by genetic analysis. Cordocentesis can also establish the diagnosis as leukocytes express CD18 on their surface from 20 weeks of gestation.
In this deficiency syndrome, we as dentists cannot change the root cause but can help the patient to lead a better life by providing supportive measures. In this case, the supportive treatment helped the patient, and the results were satisfactory.
| Conclusion|| |
Though LAD is rare, it should be considered a differential diagnosis when we come across patients with persistent clinical signs which are recalcitrant to symptomatic management and periodontal therapy.
Patient consent was obtained to use the relevant clinical details and images for the scientific publication without revealing the identity.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
| References|| |
Das J, Sharma A, Jindal A, Aggarwal V, Rawat A. Leukocyte adhesion defect: Where do we stand circa 2019. Genes Diseases 2020;7:107-14.
Hong S, Xie LJ, Yang QN, Zhu TW. Detection of leukocyte adhesion deficiency type 1 in an infant by high-throughput targeted exome sequencing. J Transl Genet Genom 2018;2:8.
Chavakis E, Choi E, Chavakis T. Novel aspects in the regulation of the leukocyte adhesion cascade. Thromb Haemost 2009;102:191-7.
Etzioni A, Frydman M, Pollack S, Avidor I, Phillips ML, Paulson JC, et al
. Recurrent severe infections caused by a novel leukocyte adhesion deficiency. N Engl J Med 1992;327:1789-92.
Kuijpers TW, Van Lier RA, Hamann D, de Boer M, Thung LY, Weening RS, et al
. Leukocyte adhesion deficiency type 1 (LAD-1)/variant. A novel immunodeficiency syndrome characterized by dysfunctional beta2 integrins. J Clin Invest 1997;100:1725-33.
Almarza Novoa E, Kasbekar S, Thrasher AJ, Kohn DB, Sevilla J, Nguyen T, et al
. Leukocyte adhesion deficiency-I: A comprehensive review of all published cases. J Allergy Clin Immunol Pract 2018;6:1418-20.
Vásquez-De Kartzow R, Jesam C, Nehgme V, Várgas F, Sepúlveda C. Leukocyte adhesion deficiency syndrome: Report on the first case in Chile and South America. Sao Paulo Med J 2012;130:263-6.
Kambli PM, Bargir UA, Yadav RM, Gupta MR, Dalvi AD, Hule G, et al
. Clinical and genetic spectrum of a large cohort of patients with leukocyte adhesion deficiency type 1 and 3: A multicentric study from India. Front Immunol 2020;11:612703. doi: 10.3389/fimmu. 2020.612703.
Gorjipour H, Chavoshzadeh Z, Fahimzad A, Hashemitari P, Darougar S. Leukocyte adhesion deficiency type 1: A case series and review of the literature. EMJ Allergy Immunol 2019;4:95-100.
Hanna S, Etzioni A. Leukocyte adhesion deficiencies: Leukocyte adhesion deficiencies. Ann New York Acad Sci 2012;1250:50-5.
[Figure 1], [Figure 2]
[Table 1], [Table 2]