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Clinical, Immunological, and Genetic Findings in Iranian Patients with MHC-II Deficiency: Confirmation of c.162delG RFXANK Founder Mutation in the Iranian Population

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Abstract

Purpose

Major histocompatibility complex class II (MHC-II) deficiency is a rare inborn error of immunity (IEI). Impaired antigen presentation to CD4 + T cells results in combined immunodeficiency (CID). Patients typically present with severe respiratory and gastrointestinal tract infections at early ages. Hematopoietic stem cell transplantation (HSCT) is the only curative therapy.

Methods

We describe the clinical, immunologic, and genetic features of eighteen unrelated Iranian patients with MHC-II deficiency.

Results

Consanguinity was present in all affected families. The median age at the initial presentation was 5.5 months (range 7 days to 18 years). The main symptoms included failure to thrive, persistent diarrhea, and pneumonia. Autoimmune and neurologic features were also documented in about one-third of the patients, respectively. Thirteen patients carried RFXANK gene mutations, two carried RFX5 gene mutations, and three carried a RFXAP gene mutation. Six patients shared the same RFXANK founder mutation (c.162delG); limited to the Iranian population and dated to approximately 1296 years ago. Four of the patients underwent HSCT; three of them are alive. On the other hand, nine of the fourteen patients who did not undergo HSCT had a poor prognosis and died.

Conclusion

MHC-II deficiency is not rare in Iran, with a high rate of consanguinity. It should be considered in the differential diagnosis of CID at any age. With the limited access to HSCT and its variable results in MHC-II deficiency, implementing genetic counseling and family planning for the affected families are mandatory. We are better determined to study the c.162delG RFXANK heterozygous mutation frequency in the Iranian population.

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Data Availability

The NGS data have been submitted to GenBank; the accession numbers are pending.

Abbreviations

ARD:

Ankyrin repeat domain

APCs:

Antigen-presenting cells

ANCA:

Antineutrophil cytoplasmic antibodies

AIHA:

Autoimmune hemolytic anemia

BCG:

Bacillus Calmette–Guerin

BAL:

Bronchoalveolar lavage

BMSC:

Bone marrow stem cells

CSF:

Cerebrospinal fluid

CADD:

Combined annotation-dependent depletion

CID:

Combined immunodeficiency

CT:

Computed tomography

CMV:

Cytomegalovirus

DTH:

Delayed-type hypersensitivity

DBD:

DNA-binding domain

ENT:

Ear, nose, and throat

FTT:

Failure to thrive

HSCT:

Hematopoietic stem cell transplantation

HSV:

Herpes simplex virus

iVDPV:

Immunodeficiency-associated vaccine–derived poliovirus

IEI:

Inborn errors of immunity

JIA:

Juvenile idiopathic arthritis

MHC-II:

Major histocompatibility complex class II

MRI:

Magnetic resonance imaging

MRD:

Matched-related donor

MAF:

Minor allele frequency

MMRD:

Mismatched-related donor

MRCA:

Most recent common ancestor

MSC:

Mutation significance cutoff

NDD:

Neurodevelopmental delay

NLH:

Nodular lymphoid hyperplasia

NTD:

N-terminal domain

NLS:

Nuclear localization signal

OPV:

Oral poliovirus vaccine

PBSC:

Peripheral blood stem cells

PEST:

Activation domain rich in acidic amino acids (P, E, S, and T)

PHA:

Phytohemagglutinin

SCID:

Severe combined immunodeficiency

TCR:

T cell receptor

VAPP:

Vaccine-associated paralytic poliomyelitis

VDPV2:

Vaccine-derived poliovirus type 2

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Author information

Authors and Affiliations

  1. Division of Allergy and Clinical Immunology, Department of Pediatrics, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran

    Mohadese Sadat Mousavi Khorshidi, Mohadese Mahdavi, Fatemeh Alizadeh, Mahshid Movahedi & Nima Parvaneh

  2. Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de La Santé Et de La Recherche Médicale (INSERM) U1163, Necker Hospital for Sick Children, Paris, France

    Yoann Seeleuthner, Mana Momenilandi, Jean-Laurent Casanova, Aurélie Cobat & Laurent Abel

  3. Imagine Institute, University Paris Cité, Paris, France

    Yoann Seeleuthner, Mana Momenilandi, Jean-Laurent Casanova, Aurélie Cobat & Laurent Abel

  4. Allergy and Immunology Department, Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran

    Zahra Chavoshzadeh, Mahboubeh Mansouri & Maryam Heydarazad Zadeh

  5. Pediatric Cell and Gene Therapy Research Center, Gene, Cell & Tissue Research Institute, Tehran University of Medical Sciences, Tehran, Iran

    Maryam Behfar & Amir Ali Hamidieh

  6. Children’s Medical Center, Pediatric Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran

    Maryam Behfar & Amir Ali Hamidieh

  7. Division of Gastroenterology, Department of Pediatrics, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran

    Hosein Alimadadi

  8. Immunodeficiency Diseases Research Center, Isfahan University of Medical Sciences, Isfahan, Iran

    Roya Sherkat

  9. Department of Allergy and Clinical Immunology, Child Growth and Development Research Center, Research Institute for Primordial Prevention of Noncommunicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran

    Tooba Momen

  10. Children Growth Disorder Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran

    Nasrin Behniafard

  11. Department of Allergy and Clinical Immunology, Shahid Sadoughi University of Medical Sciences, Yazd, Iran

    Nasrin Behniafard

  12. Allergy and Clinical Immunology Department, Tabriz University of Medical Sciences, Tabriz, Iran

    Shabnam Eskandarzadeh

  13. Student Research Committee, Semnan University of Medical Sciences, Semnan, Iran

    Mahdiyeh Behnam

  14. Dr. Shahrooei Lab, 22 Bahman St., Ashrafi Esfahani Blvd, Tehran, Iran

    Mahdiyeh Behnam & Mohammad Shahrooei

  15. Department of Pediatrics, Faculty of Medicine, Ilam University of Medical Sciences, Ilam, Iran

    Mehdi Shokri

  16. Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran

    Mohammad Keramatipour

  17. St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA

    Jean-Laurent Casanova, Aurélie Cobat & Laurent Abel

  18. Clinical and Diagnostic Immunology, Department of Microbiology, Immunology, and Transplantation, KU Leuven, Louvain, Belgium

    Mohammad Shahrooei

  19. Children’s Medical Centre, No 62 Gharib St, Tehran, 1419733152, Iran

    Nima Parvaneh

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  1. Mohadese Sadat Mousavi Khorshidi
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Contributions

Conceptualization: Nima Parvaneh. Methodology: Nima Parvaneh, Mohammad Shahrooei, Laurent Abel. Formal analysis and investigation: Mohadese Sadat Mousavi Khorshidi, Yoann Seeleuthner, Zahra Chavoshzadeh, Maryam Behfar, Amir Ali Hamidieh, Hosein Alimadadi, Roya Sherkat, Tooba Momen, Nasrin Behniafard, Shabnam Eskandarzadeh, Mahboubeh Mansouri, Mahdiyeh Behnam, Mohadese Mahdavi, Maryam Heydarazad Zadeh, Mehdi Shokri, Fatemeh Alizadeh, Mahshid Movahedi, Mana Momenilandi, Mohammad Keramatipour, Mohammad Shahrooei, Jean-Laurent Casanova, Aurélie Cobat, Laurent Abel, Nima Parvaneh. Writing — original draft preparation: Mohadese Sadat Mousavi Khorshidi, Yoann Seeleuthner, Nima Parvaneh. Writing — review and editing: Nima Parvaneh, Jean-Laurent Casanova, Laurent Abel, Aurélie Cobat. Supervision: Nima Parvaneh, Mohammad Shahrooei, Jean-Laurent Casanova, Laurent Abel, Aurélie Cobat.

Corresponding author

Correspondence to Nima Parvaneh.

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The Children’s Medical Center Institutional Ethics Committee, affiliated with the Tehran University of Medical Sciences, approved the study.

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Mousavi Khorshidi, M.S., Seeleuthner, Y., Chavoshzadeh, Z. et al. Clinical, Immunological, and Genetic Findings in Iranian Patients with MHC-II Deficiency: Confirmation of c.162delG RFXANK Founder Mutation in the Iranian Population. J Clin Immunol 43, 1941–1952 (2023). https://doi.org/10.1007/s10875-023-01562-z

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