Home About us Editorial board Ahead of print Current issue Archives Submit article Instructions Subscribe Search Contacts Login 
  • Users Online: 1668
  • Home
  • Print this page
  • Email this page


 
 Table of Contents  
CASE REPORT
Year : 2022  |  Volume : 34  |  Issue : 3  |  Page : 369-371

Leukocyte adhesion deficiency-1 with oral manifestations – A rare case report


Department of Oral Medicine and Radiology, Sibar Institute of Dental Sciences, Guntur, Andhra Pradesh, India

Date of Submission09-Dec-2021
Date of Decision27-Jan-2022
Date of Acceptance10-Aug-2022
Date of Web Publication26-Sep-2022

Correspondence Address:
Sethumanjusha Saranu
2-4-18, 2nd Lane, Stambalagaravu, Guntur - 522 006, Andhra Pradesh
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jiaomr.jiaomr_336_21

Rights and Permissions
   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 Top


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.[1] LAD 1 is estimated to occur in 1 per million people worldwide.[2]

The present paper reports a rare case of LAD in an 18-year-old female patient who had presented with oral manifestations.


   Case Report Top


Clinical findings

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].
Table 1: Timeline of history

Click here to view


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].
Figure 1: Intraoral images depicting erythematous gingiva

Click here to view


Based on the chief complaint and history and on considering clinical findings, we provisionally considered it to be desquamative gingivitis associated with aggressive periodontitis.

Diagnostic assessment

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].
Figure 2: Panoramic radiograph reveals generalized horizontal bone loss

Click here to view


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].
Table 2: Laboratory investigations of patient

Click here to view


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 Top


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.[3],[4]

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.[5]

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.[6],[7]

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.[8] Most frequently isolated microbes from these patients are Staphylococcus aureus and gram-negative pseudomonas.[9]

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.[10]

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 Top


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.

Declaration

Patient consent was obtained to use the relevant clinical details and images for the scientific publication without revealing the identity.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
   References Top

1.
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.  Back to cited text no. 1
    
2.
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.  Back to cited text no. 2
    
3.
Chavakis E, Choi E, Chavakis T. Novel aspects in the regulation of the leukocyte adhesion cascade. Thromb Haemost 2009;102:191-7.  Back to cited text no. 3
    
4.
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.  Back to cited text no. 4
    
5.
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.  Back to cited text no. 5
    
6.
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.  Back to cited text no. 6
    
7.
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.  Back to cited text no. 7
    
8.
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.  Back to cited text no. 8
    
9.
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.  Back to cited text no. 9
    
10.
Hanna S, Etzioni A. Leukocyte adhesion deficiencies: Leukocyte adhesion deficiencies. Ann New York Acad Sci 2012;1250:50-5.  Back to cited text no. 10
    


    Figures

  [Figure 1], [Figure 2]
 
 
    Tables

  [Table 1], [Table 2]



 

Top
 
 
  Search
 
Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
Access Statistics
Email Alert *
Add to My List *
* Registration required (free)

   Abstract Introduction Case Report Discussion Conclusion Article Figures Article Tables
  In this article
 References

 Article Access Statistics
    Viewed334    
    Printed28    
    Emailed0    
    PDF Downloaded71    
    Comments [Add]    

Recommend this journal


[TAG2]
[TAG3]
[TAG4]