Last update 01 Nov 2024

Agammaglobulinemia, Non-Bruton Type

Last update 01 Nov 2024

Basic Info

Synonyms

Agammaglobulinemia due to early proB cell defect, Agammaglobulinemia, Non-Bruton Type, Autosomal Recessive, Agammaglobulinemia, autosomal recessive

+ [3]

Introduction

A rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea.

Drugs associated with Agammaglobulinemia, Non-Bruton Type

Normal Human Immunoglobulin (CSL Behring)

Target-

Mechanism-

Active Org.

CSL Behring AG [+2]

Originator Org.

CSL Behring LLC

Active Indication

Secondary immunodeficiencies [+9]

Inactive Indication

Agammaglobulinemia, Non-Bruton Type [+7]

Drug Highest PhaseApproved

First Approval Ctry. / Loc.

First Approval Date27 Jul 2000

Clinical Trials associated with Agammaglobulinemia, Non-Bruton Type

EUCTR2010-023483-41-FR / Not yet recruitingPhase 3

A MULTICENTER STUDY ON THE EFFICACY, SAFETY AND PHARMACOKINETICS OF I10E IN PATIENTS WITH PRIMARY IMMUNODEFICIENCY (PID)

Start Date24 Apr 2013

Sponsor / Collaborator

LFB Biotechnologies SASU

NCT00542997 / CompletedPhase 3

A Multicentre Study of the Efficacy, Tolerability, Safety, and Pharmacokinetics of Immune Globulin Subcutaneous (Human) IgPro20 in Subjects With Primary Immunodeficiency

The objective of this study is to assess the efficacy, tolerability, safety and pharmacokinetics of IgPro20 in patients with primary humoral immunodeficiency (PID).

Start Date01 Sep 2007

Sponsor / Collaborator

CSL Behring LLC

100 Clinical Results associated with Agammaglobulinemia, Non-Bruton Type

100 Translational Medicine associated with Agammaglobulinemia, Non-Bruton Type

0 Patents (Medical) associated with Agammaglobulinemia, Non-Bruton Type

Literatures (Medical) associated with Agammaglobulinemia, Non-Bruton Type

01 Dec 2024·Journal of Clinical Immunology

Expanding the Clinical Phenotype with CD79A Mutation and Refractory Helicobacter Bilis Infection

Article

Author: Suri, Deepti ; Arora, Kanika ; Basu, Suprit ; Sil, Archan ; Rawat, Amit ; Khubchandani, Raju

Autosomal recessive agammaglobulinemia is a severe primary antibody deficiency disorder typically presenting in infancy. We present a rare case of an 8-year-old boy with AR agammaglobulinemia due to a homozygous splice site variant (c.499-1G > A) in the CD79A gene. Despite monthly intravenous immunoglobulin replacement and prophylactic antibiotics, he developed refractory Helicobacter bilis leg ulcers. Helicobacter species are known for extracellular colonization and are challenging to culture, necessitating molecular diagnostics for identification. The patient required prolonged treatment with intravenous meropenem followed by oral metronidazole and doxycycline for resolution of the ulcers over two years. The patient also exhibited persistent asymptomatic thrombocytopenia, an atypical finding in CD79A mutation cases. This case underscores the importance of genetic diagnosis and targeted antimicrobial therapy in managing rare infections associated with primary immunodeficiencies like autosomal recessive agammaglobulinemia due to CD79A mutation.

01 Aug 2024·Journal of Clinical Immunology

Fluoxetine Successfully Treats Intracranial Enterovirus E18 Infection in a Patient with CD79a Deficiency Arising from Segmental Uniparental Disomy of Chromosome 19

Article

Author: Zhao, Xiaodong ; Li, Chenlin ; Tang, Xuemei ; Zhang, Zhiyong ; Zhou, Lina ; Jia, Yuntao ; He, Wenli ; Li, Wenhui ; Tang, Wenjing ; Wang, Haoru ; Yang, Lu ; Jia, Yanjun ; An, Yunfei ; Zhang, Yishi ; Yu, Lang ; Li, Yulin ; Mao, Jinxiao

The pre BCR complex plays a crucial role in B cell production, and its successful expression marks the B cell differentiation from the pro-B to pre-B. The CD79a and CD79b mutations, encoding Igα and Igβ respectively, have been identified as the cause of autosomal recessive agammaglobulinemia (ARA). Here, we present a case of a patient with a homozygous CD79a mutation, exhibiting recurrent respiratory infections, diarrhea, growth and development delay, unique facial abnormalities and microcephaly, as well as neurological symptoms including tethered spinal cord, sacral canal cyst, and chronic enteroviral E18 meningitis. Complete blockade of the early B cell development in the bone marrow of the patient results in the absence of peripheral circulating mature B cells. Whole exome sequencing revealed a Loss of Heterozygosity (LOH) of approximately 19.20Mb containing CD79a on chromosome 19 in the patient. This is the first case of a homozygous CD79a mutation caused by segmental uniparental diploid (UPD). Another key outcome of this study is the effective management of long-term chronic enteroviral meningitis using a combination of intravenous immunoglobulin (IVIG) and fluoxetine. This approach offers compelling evidence of fluoxetine's utility in treating enteroviral meningitis, particularly in immunocompromised patients.

01 Jun 2024·Immunogenetics

B-cells absence in patients diagnosed as inborn errors of immunity: a registry-based study

Article

Author: Hassanzadeh, Shakiba ; Rohlfs, Meino ; Najafi, Somayeh ; Jafari, Mahbube ; Grimbacher, Bodo ; Bagherpour, Bahram ; Molavi, Newsha ; Behnam, Mahdiyeh ; Klein, Christoph ; Sherkat, Roya ; Zamanifar, Aryana ; Khoshnevisan, Ali ; Khoshnevisan, Razieh

Hypogammaglobulinemia without B-cells is a subgroup of inborn errors of immunity (IEI) which is characterized by a significant decline in all serum immunoglobulin isotypes, coupled with a pronounced reduction or absence of B-cells. Approximately 80 to 90% of individuals exhibit genetic variations in Bruton's agammaglobulinemia tyrosine kinase (BTK), whereas a minority of cases, around 5-10%, are autosomal recessive agammaglobulinemia (ARA). Very few cases are grouped into distinct subcategories. We evaluated phenotypically and genetically 27 patients from 13 distinct families with hypogammaglobinemia and no B-cells. Genetic analysis was performed via whole-exome and Sanger sequencing. The most prevalent genetic cause was mutations in BTK. Three novel mutations in the BTK gene include c.115 T > C (p. Tyr39His), c.685-686insTTAC (p.Asn229llefs5), and c.163delT (p.Ser55GlnfsTer2). Our three ARA patients include a novel homozygous stop-gain mutation in the immunoglobulin heavy constant Mu chain (IGHM) gene, a novel frameshift mutation of the B-cell antigen receptor complex-associated protein (CD79A) gene, a novel bi-allelic stop-gain mutation in the transcription factor 3 (TCF3) gene. Three patients with agammaglobulinemia have an autosomal dominant inheritance pattern, which includes a missense variant in PIK3CD, a novel missense variant in PIK3R1 and a homozygous silent mutation in the phosphoinositide-3-kinase regulatory subunit (RASGRP1) gene. This study broadens the genetic spectrum of hypogammaglobulinemia without B-cells and presented a few novel variants within the Iranian community, which may also have implications in other Middle Eastern populations. Notably, disease control was better in the second affected family member in families with multiple cases.

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Agammaglobulinemia, Non-Bruton Type

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